Daily Papers

Cardiovascular disease remains the leading cause of global mortality, with progress hindered by human interpretation of complex cardiac tests. Current AI vision-language models are limited to single-modality inputs and are non-interactive. We present MARCUS (Multimodal Autonomous Reasoning and Chat for Ultrasound and Signals), an agentic vision-language system for end-to-end interpretation of electrocardiograms (ECGs), echocardiograms, and cardiac magnetic resonance imaging (CMR) independently and as multimodal input. MARCUS employs a hierarchical agentic architecture comprising modality-specific vision-language expert models, each integrating domain-trained visual encoders with multi-stage language model optimization, coordinated by a multimodal orchestrator. Trained on 13.5 million images (0.25M ECGs, 1.3M echocardiogram images, 12M CMR images) and our novel expert-curated dataset spanning 1.6 million questions, MARCUS achieves state-of-the-art performance surpassing frontier models (GPT-5 Thinking, Gemini 2.5 Pro Deep Think). Across internal (Stanford) and external (UCSF) test cohorts, MARCUS achieves accuracies of 87-91% for ECG, 67-86% for echocardiography, and 85-88% for CMR, outperforming frontier models by 34-45% (P<0.001). On multimodal cases, MARCUS achieved 70% accuracy, nearly triple that of frontier models (22-28%), with 1.7-3.0x higher free-text quality scores. Our agentic architecture also confers resistance to mirage reasoning, whereby vision-language models derive reasoning from unintended textual signals or hallucinated visual content. MARCUS demonstrates that domain-specific visual encoders with an agentic orchestrator enable multimodal cardiac interpretation. We release our models, code, and benchmark open-source.

Twelve-lead electrocardiograms (ECGs) are the clinical gold standard for cardiac diagnosis, providing comprehensive spatial coverage of the heart necessary to detect conditions such as myocardial infarction (MI). However, their lack of portability limits continuous and large-scale use. Three-lead ECG systems are widely used in wearable devices due to their simplicity and mobility, but they often fail to capture pathologies in unmeasured regions. To address this, we propose WearECG, a Variational Autoencoder (VAE) method that reconstructs twelve-lead ECGs from three leads: II, V1, and V5. Our model includes architectural improvements to better capture temporal and spatial dependencies in ECG signals. We evaluate generation quality using MSE, MAE, and Frechet Inception Distance (FID), and assess clinical validity via a Turing test with expert cardiologists. To further validate diagnostic utility, we fine-tune ECGFounder, a large-scale pretrained ECG model, on a multi-label classification task involving over 40 cardiac conditions, including six different myocardial infarction locations, using both real and generated signals. Experiments on the MIMIC dataset show that our method produces physiologically realistic and diagnostically informative signals, with robust performance in downstream tasks. This work demonstrates the potential of generative modeling for ECG reconstruction and its implications for scalable, low-cost cardiac screening.

Large Language Models (LLMs) are fluent but prone to hallucinations, producing answers that appear plausible yet are unsupported by available evidence. This failure is especially problematic in high-stakes domains where decisions must be justified by verifiable information. We introduce EvidenceRL, a reinforcement learning framework that enforces evidence adherence during training. EvidenceRL scores candidate responses for grounding (entailment with retrieved evidence and context) and correctness (agreement with reference answers) and optimizes the generator using Group Relative Policy Optimization (GRPO). We evaluate across two high-stakes domains, cardiac diagnosis and legal reasoning, where EvidenceRL consistently improves evidence grounding and faithfulness without sacrificing task accuracy. On cardiac diagnosis, F1@3 increases from 37.0 to 54.5 on Llama-3.2-3B while grounding (G_{max}@3) rises from 47.6 to 78.2; hallucinations drop nearly 5times and evidence-supported diagnoses increase from 31.8\% to 61.6\%. On legal reasoning, EvidenceRL raises Faithfulness from 32.8\% to 67.6\% on Llama-3.1-8B, demonstrating consistent behavioral change across domains. Our code is open-sourced at https://github.com/Wizaaard/EvidenceRL.git.

Recent advancements in Large Language Models (LLMs) have drawn increasing attention since the learned embeddings pretrained on large-scale datasets have shown powerful ability in various downstream applications. However, whether the learned knowledge by LLMs can be transferred to clinical cardiology remains unknown. In this work, we aim to bridge this gap by transferring the knowledge of LLMs to clinical Electrocardiography (ECG). We propose an approach for cardiovascular disease diagnosis and automatic ECG diagnosis report generation. We also introduce an additional loss function by Optimal Transport (OT) to align the distribution between ECG and language embedding. The learned embeddings are evaluated on two downstream tasks: (1) automatic ECG diagnosis report generation, and (2) zero-shot cardiovascular disease detection. Our approach is able to generate high-quality cardiac diagnosis reports and also achieves competitive zero-shot classification performance even compared with supervised baselines, which proves the feasibility of transferring knowledge from LLMs to the cardiac domain.

Medical image segmentation methods downsample images for feature extraction and then upsample them to restore resolution for pixel-level predictions. In such a schema, upsample technique is vital in restoring information for better performance. However, existing upsample techniques leverage little information from downsampling paths. The local and detailed feature from the shallower layer such as boundary and tissue texture is particularly more important in medical segmentation compared with natural image segmentation. To this end, we propose a novel upsample approach for medical image segmentation, Window Attention Upsample (WAU), which upsamples features conditioned on local and detailed features from downsampling path in local windows by introducing attention decoders of Transformer. WAU could serve as a general upsample method and be incorporated into any segmentation model that possesses lateral connections. We first propose the Attention Upsample which consists of Attention Decoder (AD) and bilinear upsample. AD leverages pixel-level attention to model long-range dependency and global information for a better upsample. Bilinear upsample is introduced as the residual connection to complement the upsampled features. Moreover, considering the extensive memory and computation cost of pixel-level attention, we further design a window attention scheme to restrict attention computation in local windows instead of the global range. We evaluate our method (WAU) on classic U-Net structure with lateral connections and achieve state-of-the-art performance on Synapse multi-organ segmentation, Medical Segmentation Decathlon (MSD) Brain, and Automatic Cardiac Diagnosis Challenge (ACDC) datasets. We also validate the effectiveness of our method on multiple classic architectures and achieve consistent improvement.

Accurate 3D cardiac reconstruction from cine magnetic resonance imaging (cMRI) is crucial for improved cardiovascular disease diagnosis and understanding of the heart's motion. However, current cardiac MRI-based reconstruction technology used in clinical settings is 2D with limited through-plane resolution, resulting in low-quality reconstructed cardiac volumes. To better reconstruct 3D cardiac volumes from sparse 2D image stacks, we propose a morphology-guided diffusion model for 3D cardiac volume reconstruction, DMCVR, that synthesizes high-resolution 2D images and corresponding 3D reconstructed volumes. Our method outperforms previous approaches by conditioning the cardiac morphology on the generative model, eliminating the time-consuming iterative optimization process of the latent code, and improving generation quality. The learned latent spaces provide global semantics, local cardiac morphology and details of each 2D cMRI slice with highly interpretable value to reconstruct 3D cardiac shape. Our experiments show that DMCVR is highly effective in several aspects, such as 2D generation and 3D reconstruction performance. With DMCVR, we can produce high-resolution 3D cardiac MRI reconstructions, surpassing current techniques. Our proposed framework has great potential for improving the accuracy of cardiac disease diagnosis and treatment planning. Code can be accessed at https://github.com/hexiaoxiao-cs/DMCVR.

Echocardiogram video segmentation plays an important role in cardiac disease diagnosis. This paper studies the unsupervised domain adaption (UDA) for echocardiogram video segmentation, where the goal is to generalize the model trained on the source domain to other unlabelled target domains. Existing UDA segmentation methods are not suitable for this task because they do not model local information and the cyclical consistency of heartbeat. In this paper, we introduce a newly collected CardiacUDA dataset and a novel GraphEcho method for cardiac structure segmentation. Our GraphEcho comprises two innovative modules, the Spatial-wise Cross-domain Graph Matching (SCGM) and the Temporal Cycle Consistency (TCC) module, which utilize prior knowledge of echocardiogram videos, i.e., consistent cardiac structure across patients and centers and the heartbeat cyclical consistency, respectively. These two modules can better align global and local features from source and target domains, improving UDA segmentation results. Experimental results showed that our GraphEcho outperforms existing state-of-the-art UDA segmentation methods. Our collected dataset and code will be publicly released upon acceptance. This work will lay a new and solid cornerstone for cardiac structure segmentation from echocardiogram videos. Code and dataset are available at: https://github.com/xmed-lab/GraphEcho

Artificial intelligence (AI) has demonstrated significant potential in ECG analysis and cardiovascular disease assessment. Recently, foundation models have played a remarkable role in advancing medical AI. The development of an ECG foundation model holds the promise of elevating AI-ECG research to new heights. However, building such a model faces several challenges, including insufficient database sample sizes and inadequate generalization across multiple domains. Additionally, there is a notable performance gap between single-lead and multi-lead ECG analyses. We introduced an ECG Foundation Model (ECGFounder), a general-purpose model that leverages real-world ECG annotations from cardiology experts to broaden the diagnostic capabilities of ECG analysis. ECGFounder was trained on over 10 million ECGs with 150 label categories from the Harvard-Emory ECG Database, enabling comprehensive cardiovascular disease diagnosis through ECG analysis. The model is designed to be both an effective out-of-the-box solution, and a to be fine-tunable for downstream tasks, maximizing usability. Importantly, we extended its application to lower rank ECGs, and arbitrary single-lead ECGs in particular. ECGFounder is applicable to supporting various downstream tasks in mobile monitoring scenarios. Experimental results demonstrate that ECGFounder achieves expert-level performance on internal validation sets, with AUROC exceeding 0.95 for eighty diagnoses. It also shows strong classification performance and generalization across various diagnoses on external validation sets. When fine-tuned, ECGFounder outperforms baseline models in demographic analysis, clinical event detection, and cross-modality cardiac rhythm diagnosis. The trained model and data will be publicly released upon publication through the bdsp.io. Our code is available at https://github.com/bdsp-core/ECGFounder

Echocardiography has been a prominent tool for the diagnosis of cardiac disease. However, these diagnoses can be heavily impeded by poor image quality. Acoustic clutter emerges due to multipath reflections imposed by layers of skin, subcutaneous fat, and intercostal muscle between the transducer and heart. As a result, haze and other noise artifacts pose a real challenge to cardiac ultrasound imaging. In many cases, especially with difficult-to-image patients such as patients with obesity, a diagnosis from B-Mode ultrasound imaging is effectively rendered unusable, forcing sonographers to resort to contrast-enhanced ultrasound examinations or refer patients to other imaging modalities. Tissue harmonic imaging has been a popular approach to combat haze, but in severe cases is still heavily impacted by haze. Alternatively, denoising algorithms are typically unable to remove highly structured and correlated noise, such as haze. It remains a challenge to accurately describe the statistical properties of structured haze, and develop an inference method to subsequently remove it. Diffusion models have emerged as powerful generative models and have shown their effectiveness in a variety of inverse problems. In this work, we present a joint posterior sampling framework that combines two separate diffusion models to model the distribution of both clean ultrasound and haze in an unsupervised manner. Furthermore, we demonstrate techniques for effectively training diffusion models on radio-frequency ultrasound data and highlight the advantages over image data. Experiments on both in-vitro and in-vivo cardiac datasets show that the proposed dehazing method effectively removes haze while preserving signals from weakly reflected tissue.

Left ventricular hypertrophy (LVH) results from chronic remodeling caused by a broad range of systemic and cardiovascular disease including hypertension, aortic stenosis, hypertrophic cardiomyopathy, and cardiac amyloidosis. Early detection and characterization of LVH can significantly impact patient care but is limited by under-recognition of hypertrophy, measurement error and variability, and difficulty differentiating etiologies of LVH. To overcome this challenge, we present EchoNet-LVH - a deep learning workflow that automatically quantifies ventricular hypertrophy with precision equal to human experts and predicts etiology of LVH. Trained on 28,201 echocardiogram videos, our model accurately measures intraventricular wall thickness (mean absolute error [MAE] 1.4mm, 95% CI 1.2-1.5mm), left ventricular diameter (MAE 2.4mm, 95% CI 2.2-2.6mm), and posterior wall thickness (MAE 1.2mm, 95% CI 1.1-1.3mm) and classifies cardiac amyloidosis (area under the curve of 0.83) and hypertrophic cardiomyopathy (AUC 0.98) from other etiologies of LVH. In external datasets from independent domestic and international healthcare systems, EchoNet-LVH accurately quantified ventricular parameters (R2 of 0.96 and 0.90 respectively) and detected cardiac amyloidosis (AUC 0.79) and hypertrophic cardiomyopathy (AUC 0.89) on the domestic external validation site. Leveraging measurements across multiple heart beats, our model can more accurately identify subtle changes in LV geometry and its causal etiologies. Compared to human experts, EchoNet-LVH is fully automated, allowing for reproducible, precise measurements, and lays the foundation for precision diagnosis of cardiac hypertrophy. As a resource to promote further innovation, we also make publicly available a large dataset of 23,212 annotated echocardiogram videos.

Cardiac magnetic resonance (CMR) is a cornerstone for diagnosing cardiovascular disease. However, it remains underutilized due to complex, time-consuming interpretation across multi-sequences, phases, quantitative measures that heavily reliant on specialized expertise. Here, we present BAAI Cardiac Agent, a multimodal intelligent system designed for end-to-end CMR interpretation. The agent integrates specialized cardiac expert models to perform automated segmentation of cardiac structures, functional quantification, tissue characterization and disease diagnosis, and generates structured clinical reports within a unified workflow. Evaluated on CMR datasets from two hospitals (2413 patients) spanning 7-types of major cardiovascular diseases, the agent achieved an area under the receiver-operating-characteristic curve exceeding 0.93 internally and 0.81 externally. In the task of estimating left ventricular function indices, the results generated by this system for core parameters such as ejection fraction, stroke volume, and left ventricular mass are highly consistent with clinical reports, with Pearson correlation coefficients all exceeding 0.90. The agent outperformed state-of-the-art models in segmentation and diagnostic tasks, and generated clinical reports showing high concordance with expert radiologists (six readers across three experience levels). By dynamically orchestrating expert models for coordinated multimodal analysis, this agent framework enables accurate, efficient CMR interpretation and highlights its potentials for complex clinical imaging workflows. Code is available at https://github.com/plantain-herb/Cardiac-Agent.

The electrocardiogram (ECG) remains a fundamental tool in cardiac diagnostics, yet its interpretation traditionally reliant on the expertise of cardiologists. The emergence of deep learning has heralded a revolutionary era in medical data analysis, particularly in the domain of ECG diagnostics. However, inter-patient variability prohibit the generalibility of ECG-AI model trained on a population dataset, hence degrade the performance of ECG-AI on specific patient or patient group. Many studies have address this challenge using different deep learning technologies. This comprehensive review systematically synthesizes research from a wide range of studies to provide an in-depth examination of cutting-edge deep-learning techniques in personalized ECG diagnosis. The review outlines a rigorous methodology for the selection of pertinent scholarly articles and offers a comprehensive overview of deep learning approaches applied to personalized ECG diagnostics. Moreover, the challenges these methods encounter are investigated, along with future research directions, culminating in insights into how the integration of deep learning can transform personalized ECG diagnosis and enhance cardiac care. By emphasizing both the strengths and limitations of current methodologies, this review underscores the immense potential of deep learning to refine and redefine ECG analysis in clinical practice, paving the way for more accurate, efficient, and personalized cardiac diagnostics.

Clinical machine learning research and AI driven clinical decision support models rely on clinically accurate labels. Manually extracting these labels with the help of clinical specialists is often time-consuming and expensive. This study tests the feasibility of automatic span- and document-level diagnosis extraction from unstructured Dutch echocardiogram reports. We included 115,692 unstructured echocardiogram reports from the UMCU a large university hospital in the Netherlands. A randomly selected subset was manually annotated for the occurrence and severity of eleven commonly described cardiac characteristics. We developed and tested several automatic labelling techniques at both span and document levels, using weighted and macro F1-score, precision, and recall for performance evaluation. We compared the performance of span labelling against document labelling methods, which included both direct document classifiers and indirect document classifiers that rely on span classification results. The SpanCategorizer and MedRoBERTa.nl models outperformed all other span and document classifiers, respectively. The weighted F1-score varied between characteristics, ranging from 0.60 to 0.93 in SpanCategorizer and 0.96 to 0.98 in MedRoBERTa.nl. Direct document classification was superior to indirect document classification using span classifiers. SetFit achieved competitive document classification performance using only 10\% of the training data. Utilizing a reduced label set yielded near-perfect document classification results. We recommend using our published SpanCategorizer and MedRoBERTa.nl models for span- and document-level diagnosis extraction from Dutch echocardiography reports. For settings with limited training data, SetFit may be a promising alternative for document classification.

Chest X-ray imaging is crucial for diagnosing pulmonary and cardiac diseases, yet its interpretation demands extensive clinical experience and suffers from inter-observer variability. While deep learning models offer high diagnostic accuracy, their black-box nature hinders clinical adoption in high-stakes medical settings. To address this, we propose X-Ray-CoT (Chest X-Ray Chain-of-Thought), a novel framework leveraging Vision-Language Large Models (LVLMs) for intelligent chest X-ray diagnosis and interpretable report generation. X-Ray-CoT simulates human radiologists' "chain-of-thought" by first extracting multi-modal features and visual concepts, then employing an LLM-based component with a structured Chain-of-Thought prompting strategy to reason and produce detailed natural language diagnostic reports. Evaluated on the CORDA dataset, X-Ray-CoT achieves competitive quantitative performance, with a Balanced Accuracy of 80.52% and F1 score of 78.65% for disease diagnosis, slightly surpassing existing black-box models. Crucially, it uniquely generates high-quality, explainable reports, as validated by preliminary human evaluations. Our ablation studies confirm the integral role of each proposed component, highlighting the necessity of multi-modal fusion and CoT reasoning for robust and transparent medical AI. This work represents a significant step towards trustworthy and clinically actionable AI systems in medical imaging.

Cardiac biosignals, such as electrocardiograms (ECG) and photoplethysmograms (PPG), are of paramount importance for the diagnosis, prevention, and management of cardiovascular diseases, and have been extensively used in a variety of clinical tasks. Conventional deep learning approaches for analyzing these signals typically rely on homogeneous datasets and static bespoke models, limiting their robustness and generalizability across diverse clinical settings and acquisition protocols. In this study, we present a cardiac sensing foundation model (CSFM) that leverages advanced transformer architectures and a generative, masked pretraining strategy to learn unified representations from vast, heterogeneous health records. Our model is pretrained on an innovative multi-modal integration of data from multiple large-scale datasets (including MIMIC-III-WDB, MIMIC-IV-ECG, and CODE), comprising cardiac signals and the corresponding clinical or machine-generated text reports from approximately 1.7 million individuals. We demonstrate that the embeddings derived from our CSFM not only serve as effective feature extractors across diverse cardiac sensing scenarios, but also enable seamless transfer learning across varying input configurations and sensor modalities. Extensive evaluations across diagnostic tasks, demographic information recognition, vital sign measurement, clinical outcome prediction, and ECG question answering reveal that CSFM consistently outperforms traditional one-modal-one-task approaches. Notably, CSFM exhibits robust performance across multiple ECG lead configurations from standard 12-lead systems to single-lead setups, and in scenarios where only ECG, only PPG, or a combination thereof is available. These findings highlight the potential of CSFM as a versatile and scalable solution, for comprehensive cardiac monitoring.

Medical audio signals, such as heart and lung sounds, play a crucial role in clinical diagnosis. However, analyzing these signals remains challenging: traditional methods rely on handcrafted features or supervised deep learning models that demand extensive labeled datasets, limiting their scalability and applicability. To address these issues, we propose CaReAQA, an audio-language model that integrates a foundation audio model with the reasoning capabilities of large language models, enabling clinically relevant, open-ended diagnostic responses. Alongside CaReAQA, we introduce CaReSound, a benchmark dataset of annotated medical audio recordings enriched with metadata and paired question-answer examples, intended to drive progress in diagnostic reasoning research. Evaluation results show that CaReAQA achieves 86.2% accuracy on open-ended diagnostic reasoning tasks, outperforming baseline models. It also generalizes well to closed-ended classification tasks, achieving an average accuracy of 56.9% on unseen datasets. Our findings show how audio-language integration and reasoning advances medical diagnostics, enabling efficient AI systems for clinical decision support.

Echocardiography plays a central role in cardiac imaging, offering dynamic views of the heart that are essential for diagnosis and monitoring. However, image quality can be significantly degraded by haze arising from multipath reverberations, particularly in difficult-to-image patients. In this work, we propose a semantic-guided, diffusion-based dehazing algorithm developed for the MICCAI Dehazing Echocardiography Challenge (DehazingEcho2025). Our method integrates a pixel-wise noise model, derived from semantic segmentation of hazy inputs into a diffusion posterior sampling framework guided by a generative prior trained on clean ultrasound data. Quantitative evaluation on the challenge dataset demonstrates strong performance across contrast and fidelity metrics. Code for the submitted algorithm is available at https://github.com/tristan-deep/semantic-diffusion-echo-dehazing.

Cardiac MRI allows for a comprehensive assessment of myocardial structure, function, and tissue characteristics. Here we describe a foundational vision system for cardiac MRI, capable of representing the breadth of human cardiovascular disease and health. Our deep learning model is trained via self-supervised contrastive learning, by which visual concepts in cine-sequence cardiac MRI scans are learned from the raw text of the accompanying radiology reports. We train and evaluate our model on data from four large academic clinical institutions in the United States. We additionally showcase the performance of our models on the UK BioBank, and two additional publicly available external datasets. We explore emergent zero-shot capabilities of our system, and demonstrate remarkable performance across a range of tasks; including the problem of left ventricular ejection fraction regression, and the diagnosis of 35 different conditions such as cardiac amyloidosis and hypertrophic cardiomyopathy. We show that our deep learning system is capable of not only understanding the staggering complexity of human cardiovascular disease, but can be directed towards clinical problems of interest yielding impressive, clinical grade diagnostic accuracy with a fraction of the training data typically required for such tasks.

Accurate and contrast-free Major Adverse Cardiac Events (MACE) prediction from Cine MRI sequences remains a critical challenge. Existing methods typically necessitate supervised learning based on human-refined masks in the ventricular myocardium, which become impractical without contrast agents. We introduce a self-supervised framework, namely Codebook-based Temporal-Spatial Learning (CTSL), that learns dynamic, spatiotemporal representations from raw Cine data without requiring segmentation masks. CTSL decouples temporal and spatial features through a multi-view distillation strategy, where the teacher model processes multiple Cine views, and the student model learns from reduced-dimensional Cine-SA sequences. By leveraging codebook-based feature representations and dynamic lesion self-detection through motion cues, CTSL captures intricate temporal dependencies and motion patterns. High-confidence MACE risk predictions are achieved through our model, providing a rapid, non-invasive solution for cardiac risk assessment that outperforms traditional contrast-dependent methods, thereby enabling timely and accessible heart disease diagnosis in clinical settings.

Accurate segmentation of cardiac chambers in echocardiography sequences is crucial for the quantitative analysis of cardiac function, aiding in clinical diagnosis and treatment. The imaging noise, artifacts, and the deformation and motion of the heart pose challenges to segmentation algorithms. While existing methods based on convolutional neural networks, Transformers, and space-time memory networks have improved segmentation accuracy, they often struggle with the trade-off between capturing long-range spatiotemporal dependencies and maintaining computational efficiency with fine-grained feature representation. In this paper, we introduce GDKVM, a novel architecture for echocardiography video segmentation. The model employs Linear Key-Value Association (LKVA) to effectively model inter-frame correlations, and introduces Gated Delta Rule (GDR) to efficiently store intermediate memory states. Key-Pixel Feature Fusion (KPFF) module is designed to integrate local and global features at multiple scales, enhancing robustness against boundary blurring and noise interference. We validated GDKVM on two mainstream echocardiography video datasets (CAMUS and EchoNet-Dynamic) and compared it with various state-of-the-art methods. Experimental results show that GDKVM outperforms existing approaches in terms of segmentation accuracy and robustness, while ensuring real-time performance. Code is available at https://github.com/wangrui2025/GDKVM.

Cardiovascular diseases (CVDs) remain the leading cause of mortality globally, and echocardiography is critical for diagnosis of both common and congenital cardiac conditions. However, echocardiographic data for certain pathologies are scarce, hindering the development of robust automated diagnosis models. In this work, we propose Echo-Path, a novel generative framework to produce echocardiogram videos conditioned on specific cardiac pathologies. Echo-Path can synthesize realistic ultrasound video sequences that exhibit targeted abnormalities, focusing here on atrial septal defect (ASD) and pulmonary arterial hypertension (PAH). Our approach introduces a pathology-conditioning mechanism into a state-of-the-art echo video generator, allowing the model to learn and control disease-specific structural and motion patterns in the heart. Quantitative evaluation demonstrates that the synthetic videos achieve low distribution distances, indicating high visual fidelity. Clinically, the generated echoes exhibit plausible pathology markers. Furthermore, classifiers trained on our synthetic data generalize well to real data and, when used to augment real training sets, it improves downstream diagnosis of ASD and PAH by 7\% and 8\% respectively. Code, weights and dataset are available here https://github.com/Marshall-mk/EchoPathv1

Heart disease, also known as cardiovascular disease, is a prevalent and critical medical condition characterized by the impairment of the heart and blood vessels, leading to various complications such as coronary artery disease, heart failure, and myocardial infarction. The timely and accurate detection of heart disease is of paramount importance in clinical practice. Early identification of individuals at risk enables proactive interventions, preventive measures, and personalized treatment strategies to mitigate the progression of the disease and reduce adverse outcomes. In recent years, the field of heart disease detection has witnessed notable advancements due to the integration of sophisticated technologies and computational approaches. These include machine learning algorithms, data mining techniques, and predictive modeling frameworks that leverage vast amounts of clinical and physiological data to improve diagnostic accuracy and risk stratification. In this work, we propose to detect heart disease from ECG images using cutting-edge technologies, namely vision transformer models. These models are Google-Vit, Microsoft-Beit, and Swin-Tiny. To the best of our knowledge, this is the initial endeavor concentrating on the detection of heart diseases through image-based ECG data by employing cuttingedge technologies namely, transformer models. To demonstrate the contribution of the proposed framework, the performance of vision transformer models are compared with state-of-the-art studies. Experiment results show that the proposed framework exhibits remarkable classification results.

In clinical practice, electrocardiography (ECG) remains the gold standard for cardiac monitoring, providing crucial insights for diagnosing a wide range of cardiovascular diseases (CVDs). However, its reliance on specialized equipment and trained personnel limits feasibility for continuous routine monitoring. Photoplethysmography (PPG) offers accessible, continuous monitoring but lacks definitive electrophysiological information, preventing conclusive diagnosis. Generative models present a promising approach to translate PPG into clinically valuable ECG signals, yet current methods face substantial challenges, including the misalignment of physiological semantics in generative models and the complexity of modeling in high-dimensional signals. To this end, we propose PPGFlowECG, a two-stage framework that aligns PPG and ECG in a shared latent space via the CardioAlign Encoder and employs latent rectified flow to generate ECGs with high fidelity and interpretability. To the best of our knowledge, this is the first study to experiment on MCMED, a newly released clinical-grade dataset comprising over 10 million paired PPG-ECG samples from more than 118,000 emergency department visits with expert-labeled cardiovascular disease annotations. Results demonstrate the effectiveness of our method for PPG-to-ECG translation and cardiovascular disease detection. Moreover, cardiologist-led evaluations confirm that the synthesized ECGs achieve high fidelity and improve diagnostic reliability, underscoring our method's potential for real-world cardiovascular screening.

Automated interpretation of electrocardiograms (ECG) has garnered significant attention with the advancements in machine learning methodologies. Despite the growing interest, most current studies focus solely on classification or regression tasks, which overlook a crucial aspect of clinical cardio-disease diagnosis: the diagnostic report generated by experienced human clinicians. In this paper, we introduce a novel approach to ECG interpretation, leveraging recent breakthroughs in Large Language Models (LLMs) and Vision-Transformer (ViT) models. Rather than treating ECG diagnosis as a classification or regression task, we propose an alternative method of automatically identifying the most similar clinical cases based on the input ECG data. Also, since interpreting ECG as images is more affordable and accessible, we process ECG as encoded images and adopt a vision-language learning paradigm to jointly learn vision-language alignment between encoded ECG images and ECG diagnosis reports. Encoding ECG into images can result in an efficient ECG retrieval system, which will be highly practical and useful in clinical applications. More importantly, our findings could serve as a crucial resource for providing diagnostic services in underdeveloped regions.

Electrocardiograms (ECGs), a medical monitoring technology recording cardiac activity, are widely used for diagnosing cardiac arrhythmia. The diagnosis is based on the analysis of the deformation of the signal shapes due to irregular heart rates associated with heart diseases. Due to the infeasibility of manual examination of large volumes of ECG data, this paper aims to propose an automated AI based system for ECG-based arrhythmia classification. To this front, a deep learning based solution has been proposed for ECG-based arrhythmia classification. Twelve lead electrocardiograms (ECG) of length 10 sec from 45, 152 individuals from Shaoxing People's Hospital (SPH) dataset from PhysioNet with four different types of arrhythmias were used. The sampling frequency utilized was 500 Hz. Median filtering was used to preprocess the ECG signals. For every 1 sec of ECG signal, the time-frequency (TF) scalogram was estimated and stacked row wise to obtain a single image from 12 channels, resulting in 10 stacked TF scalograms for each ECG signal. These stacked TF scalograms are fed to the pretrained convolutional neural network (CNN), 1D CNN, and 1D CNN-LSTM (Long short-term memory) models, for arrhythmia classification. The fine-tuned CNN models obtained the best test accuracy of about 98% followed by 95% test accuracy by basic CNN-LSTM in arrhythmia classification.

Electrocardiogram (ECG) interpretation is essential for cardiovascular disease diagnosis, but current automated systems often struggle with transparency and generalization to unseen conditions. To address this, we introduce ZETA, a zero-shot multimodal framework designed for interpretable ECG diagnosis aligned with clinical workflows. ZETA uniquely compares ECG signals against structured positive and negative clinical observations, which are curated through an LLM-assisted, expert-validated process, thereby mimicking differential diagnosis. Our approach leverages a pre-trained multimodal model to align ECG and text embeddings without disease-specific fine-tuning. Empirical evaluations demonstrate ZETA's competitive zero-shot classification performance and, importantly, provide qualitative and quantitative evidence of enhanced interpretability, grounding predictions in specific, clinically relevant positive and negative diagnostic features. ZETA underscores the potential of aligning ECG analysis with structured clinical knowledge for building more transparent, generalizable, and trustworthy AI diagnostic systems. We will release the curated observation dataset and code to facilitate future research.

Cardiac ultrasound (US) scanning is a commonly used techniques in cardiology to diagnose the health of the heart and its proper functioning. Therefore, it is necessary to consider ways to automate these tasks and assist medical professionals in classifying and assessing cardiac US images. Machine learning (ML) techniques are regarded as a prominent solution due to their success in numerous applications aimed at enhancing the medical field, including addressing the shortage of echography technicians. However, the limited availability of medical data presents a significant barrier to applying ML in cardiology, particularly regarding US images of the heart. This paper addresses this challenge by introducing the first open graded dataset for Cardiac Assessment and ClassificaTion of UltraSound (CACTUS), which is available online. This dataset contains images obtained from scanning a CAE Blue Phantom and representing various heart views and different quality levels, exceeding the conventional cardiac views typically found in the literature. Additionally, the paper introduces a Deep Learning (DL) framework consisting of two main components. The first component classifies cardiac US images based on the heart view using a Convolutional Neural Network (CNN). The second component uses Transfer Learning (TL) to fine-tune the knowledge from the first component and create a model for grading and assessing cardiac images. The framework demonstrates high performance in both classification and grading, achieving up to 99.43% accuracy and as low as 0.3067 error, respectively. To showcase its robustness, the framework is further fine-tuned using new images representing additional cardiac views and compared to several other state-of-the-art architectures. The framework's outcomes and performance in handling real-time scans were also assessed using a questionnaire answered by cardiac experts.

Electrocardiogram (ECG) plays a foundational role in modern cardiovascular care, enabling non-invasive diagnosis of arrhythmias, myocardial ischemia, and conduction disorders. While machine learning has achieved expert-level performance in ECG interpretation, the development of clinically deployable multimodal AI systems remains constrained, primarily due to the lack of publicly available datasets that simultaneously incorporate raw signals, diagnostic images, and interpretation text. Most existing ECG datasets provide only single-modality data or, at most, dual modalities, making it difficult to build models that can understand and integrate diverse ECG information in real-world settings. To address this gap, we introduce MEETI (MIMIC-IV-Ext ECG-Text-Image), the first large-scale ECG dataset that synchronizes raw waveform data, high-resolution plotted images, and detailed textual interpretations generated by large language models. In addition, MEETI includes beat-level quantitative ECG parameters extracted from each lead, offering structured parameters that support fine-grained analysis and model interpretability. Each MEETI record is aligned across four components: (1) the raw ECG waveform, (2) the corresponding plotted image, (3) extracted feature parameters, and (4) detailed interpretation text. This alignment is achieved using consistent, unique identifiers. This unified structure supports transformer-based multimodal learning and supports fine-grained, interpretable reasoning about cardiac health. By bridging the gap between traditional signal analysis, image-based interpretation, and language-driven understanding, MEETI established a robust foundation for the next generation of explainable, multimodal cardiovascular AI. It offers the research community a comprehensive benchmark for developing and evaluating ECG-based AI systems.

Electrocardiography plays a central role in cardiovascular diagnostics, yet existing automated approaches often struggle to generalize across clinical tasks and offer limited support for open-ended reasoning. We present DiagECG, a novel framework that integrates time-series and language modeling by enabling large language models to process 12-lead ECG signals for clinical text generation tasks. Our approach discretizes continuous ECG embeddings into symbolic tokens using a lead-independent encoder and quantization module. These tokens are then used to extend the vocabulary of LLM, allowing the model to handle both ECG and natural language inputs in a unified manner. To bridge the modality gap, we pretrain the model on an autoregressive ECG forecasting task, enabling the LLM to model temporal dynamics using its native language modeling capabilities. Finally, we perform instruction tuning on both ECG question answering and diagnostic report generation. Without modifying the core model, DiagECG achieves strong performance across tasks while maintaining generalization to out-of-distribution settings. Extensive experiments demonstrate the effectiveness of each component and highlight the potential of integrating symbolic ECG representations into LLMs for medical reasoning.

An arrhythmia, also known as a dysrhythmia, refers to an irregular heartbeat. There are various types of arrhythmias that can originate from different areas of the heart, resulting in either a rapid, slow, or irregular heartbeat. An electrocardiogram (ECG) is a vital diagnostic tool used to detect heart irregularities and abnormalities, allowing experts to analyze the heart's electrical signals to identify intricate patterns and deviations from the norm. Over the past few decades, numerous studies have been conducted to develop automated methods for classifying heartbeats based on ECG data. In recent years, deep learning has demonstrated exceptional capabilities in tackling various medical challenges, particularly with transformers as a model architecture for sequence processing. By leveraging the transformers, we developed the ECGformer model for the classification of various arrhythmias present in electrocardiogram data. We assessed the suggested approach using the MIT-BIH and PTB datasets. ECG heartbeat arrhythmia classification results show that the proposed method is highly effective.

Heart disease remains a significant threat to human health. As a non-invasive diagnostic tool, the electrocardiogram (ECG) is one of the most widely used methods for cardiac screening. However, the scarcity of high-quality ECG data, driven by privacy concerns and limited medical resources, creates a pressing need for effective ECG signal generation. Existing approaches for generating ECG signals typically rely on small training datasets, lack comprehensive evaluation frameworks, and overlook potential applications beyond data augmentation. To address these challenges, we propose DiffuSETS, a novel framework capable of generating ECG signals with high semantic alignment and fidelity. DiffuSETS accepts various modalities of clinical text reports and patient-specific information as inputs, enabling the creation of clinically meaningful ECG signals. Additionally, to address the lack of standardized evaluation in ECG generation, we introduce a comprehensive benchmarking methodology to assess the effectiveness of generative models in this domain. Our model achieve excellent results in tests, proving its superiority in the task of ECG generation. Furthermore, we showcase its potential to mitigate data scarcity while exploring novel applications in cardiology education and medical knowledge discovery, highlighting the broader impact of our work.

Coronary artery disease (CAD) is a leading cause of cardiovascular-related mortality, and accurate stenosis detection is crucial for effective clinical decision-making. Coronary angiography remains the gold standard for diagnosing CAD, but manual analysis of angiograms is prone to errors and subjectivity. This study aims to develop a deep learning-based approach for the automatic segmentation of coronary arteries from angiographic images and the quantitative detection of stenosis, thereby improving the accuracy and efficiency of CAD diagnosis. We propose a novel deep learning-based method for the automatic segmentation of coronary arteries in angiographic images, coupled with a dynamic cohort method for stenosis detection. The segmentation model combines the MedSAM and VM-UNet architectures to achieve high-performance results. After segmentation, the vascular centerline is extracted, vessel diameter is computed, and the degree of stenosis is measured with high precision, enabling accurate identification of arterial stenosis. On the mixed dataset (including the ARCADE, DCA1, and GH datasets), the model achieved an average IoU of 0.6308, with sensitivity and specificity of 0.9772 and 0.9903, respectively. On the ARCADE dataset, the average IoU was 0.6303, with sensitivity of 0.9832 and specificity of 0.9933. Additionally, the stenosis detection algorithm achieved a true positive rate (TPR) of 0.5867 and a positive predictive value (PPV) of 0.5911, demonstrating the effectiveness of our model in analyzing coronary angiography images. SAM-VMNet offers a promising tool for the automated segmentation and detection of coronary artery stenosis. The model's high accuracy and robustness provide significant clinical value for the early diagnosis and treatment planning of CAD. The code and examples are available at https://github.com/qimingfan10/SAM-VMNet.

We develop an algorithm which exceeds the performance of board certified cardiologists in detecting a wide range of heart arrhythmias from electrocardiograms recorded with a single-lead wearable monitor. We build a dataset with more than 500 times the number of unique patients than previously studied corpora. On this dataset, we train a 34-layer convolutional neural network which maps a sequence of ECG samples to a sequence of rhythm classes. Committees of board-certified cardiologists annotate a gold standard test set on which we compare the performance of our model to that of 6 other individual cardiologists. We exceed the average cardiologist performance in both recall (sensitivity) and precision (positive predictive value).

Millions of clinical ECGs exist only as paper scans, making them unusable for modern automated diagnostics. We introduce a fully automated, modular framework that converts scanned or photographed ECGs into digital signals, suitable for both clinical and research applications. The framework is validated on 37,191 ECG images with 1,596 collected at Akershus University Hospital, where the algorithm obtains a mean signal-to-noise ratio of 19.65 dB on scanned papers with common artifacts. It is further evaluated on the Emory Paper Digitization ECG Dataset, comprising 35,595 images, including images with perspective distortion, wrinkles, and stains. The model improves on the state-of-the-art in all subcategories. The full software is released as open-source, promoting reproducibility and further development. We hope the software will contribute to unlocking retrospective ECG archives and democratize access to AI-driven diagnostics.

Electrocardiogram (ECG) serves as the primary non-invasive diagnostic tool for cardiac conditions monitoring, are crucial in assisting clinicians. Recent studies have concentrated on classifying cardiac conditions using ECG data but have overlooked ECG report generation, which is not only time-consuming but also requires clinical expertise. To automate ECG report generation and ensure its versatility, we propose the Multimodal ECG Instruction Tuning (MEIT) framework, the first attempt to tackle ECG report generation with LLMs and multimodal instructions. To facilitate future research, we establish a benchmark to evaluate MEIT with various LLMs backbones across two large-scale ECG datasets. Our approach uniquely aligns the representations of the ECG signal and the report, and we conduct extensive experiments to benchmark MEIT with nine open source LLMs, using more than 800,000 ECG reports. MEIT's results underscore the superior performance of instruction-tuned LLMs, showcasing their proficiency in quality report generation, zero-shot capabilities, and resilience to signal perturbation. These findings emphasize the efficacy of our MEIT framework and its potential for real-world clinical application.

Clinical diagnosis is critical in medical practice, typically requiring a continuous and evolving process that includes primary diagnosis, differential diagnosis, and final diagnosis. However, most existing clinical diagnostic tasks are single-step processes, which does not align with the complex multi-step diagnostic procedures found in real-world clinical settings. In this paper, we propose a multi-step diagnostic task and annotate a clinical diagnostic dataset (MSDiagnosis). This dataset includes primary diagnosis, differential diagnosis, and final diagnosis questions. Additionally, we propose a novel and effective framework. This framework combines forward inference, backward inference, reflection, and refinement, enabling the LLM to self-evaluate and adjust its diagnostic results. To assess the effectiveness of our proposed method, we design and conduct extensive experiments. The experimental results demonstrate the effectiveness of the proposed method. We also provide a comprehensive experimental analysis and suggest future research directions for this task.

Objective: Heart murmurs are abnormal sounds caused by turbulent blood flow within the heart. Several diagnostic methods are available to detect heart murmurs and their severity, such as cardiac auscultation, echocardiography, phonocardiogram (PCG), etc. However, these methods have limitations, including extensive training and experience among healthcare providers, cost and accessibility of echocardiography, as well as noise interference and PCG data processing. This study aims to develop a novel end-to-end real-time heart murmur detection approach using traditional and depthwise separable convolutional networks. Methods: Continuous wavelet transform (CWT) was applied to extract meaningful features from the PCG data. The proposed network has three parts: the Squeeze net, the Bottleneck, and the Expansion net. The Squeeze net generates a compressed data representation, whereas the Bottleneck layer reduces computational complexity using a depthwise-separable convolutional network. The Expansion net is responsible for up-sampling the compressed data to a higher dimension, capturing tiny details of the representative data. Results: For evaluation, we used four publicly available datasets and achieved state-of-the-art performance in all datasets. Furthermore, we tested our proposed network on two resource-constrained devices: a Raspberry PI and an Android device, stripping it down into a tiny machine learning model (TinyML), achieving a maximum of 99.70%. Conclusion: The proposed model offers a deep learning framework for real-time accurate heart murmur detection within limited resources. Significance: It will significantly result in more accessible and practical medical services and reduced diagnosis time to assist medical professionals. The code is publicly available at TBA.

Echocardiography records ultrasound videos of the heart, enabling clinicians to assess cardiac function. Recent advances in large-scale vision-language models (VLMs) have spurred interest in automating echocardiographic interpretation. However, most existing medical VLMs rely on single-frame (image) inputs, which can reduce diagnostic accuracy for conditions identifiable only through cardiac motion. In addition, echocardiographic videos are captured from multiple views, each varying in suitability for detecting specific conditions. Leveraging multiple views may therefore improve diagnostic performance. We developed a video-language model that processes full video sequences from five standard views, trained on 60,747 echocardiographic video-report pairs. We evaluated the gains in retrieval performance from video input and multi-view support, including the contributions of various pretrained models.

Electrocardiography (ECG) offers critical cardiovascular insights, such as identifying arrhythmias and myocardial ischemia, but enabling automated systems to answer complex clinical questions directly from ECG signals (ECG-QA) remains a significant challenge. Current approaches often lack robust multimodal reasoning capabilities or rely on generic architectures ill-suited for the nuances of physiological signals. We introduce Q-Heart, a novel multimodal framework designed to bridge this gap. Q-Heart leverages a powerful, adapted ECG encoder and integrates its representations with textual information via a specialized ECG-aware transformer-based mapping layer. Furthermore, Q-Heart leverages dynamic prompting and retrieval of relevant historical clinical reports to guide tuning the language model toward knowledge-aware ECG reasoning. Extensive evaluations on the benchmark ECG-QA dataset show Q-Heart achieves state-of-the-art performance, outperforming existing methods by a 4% improvement in exact match accuracy. Our work demonstrates the effectiveness of combining domain-specific architectural adaptations with knowledge-augmented LLM instruction tuning for complex physiological ECG analysis, paving the way for more capable and potentially interpretable clinical patient care systems.

Accurate diagnosis of heart arrhythmias requires the interpretation of electrocardiograms (ECG), which capture the electrical activity of the heart. Automating this process through machine learning is challenging due to the need for large annotated datasets, which are difficult and costly to collect. To address this issue, transfer learning is often employed, where models are pre-trained on large datasets and fine-tuned for specific ECG classification tasks with limited labeled data. Self-supervised learning has become a widely adopted pre-training method, enabling models to learn meaningful representations from unlabeled datasets. In this work, we explore the joint-embedding predictive architecture (JEPA) for self-supervised learning from ECG data. Unlike invariance-based methods, JEPA does not rely on hand-crafted data augmentations, and unlike generative methods, it predicts latent features rather than reconstructing input data. We create a large unsupervised pre-training dataset by combining ten public ECG databases, amounting to over one million records. We pre-train Vision Transformers using JEPA on this dataset and fine-tune them on various PTB-XL benchmarks. Our results show that JEPA outperforms existing invariance-based and generative approaches, achieving an AUC of 0.945 on the PTB-XL all statements task. JEPA consistently learns the highest quality representations, as demonstrated in linear evaluations, and proves advantageous for pre-training even in the absence of additional data.

Accurate detection of cardiac abnormalities from electrocardiogram recordings is regarded as essential for clinical diagnostics and decision support. Traditional deep learning models such as residual networks and transformer architectures have been applied successfully to this task, but their performance has been limited when long sequential signals are processed. Recently, state space models have been introduced as an efficient alternative. In this study, a hybrid framework named One Dimensional Convolutional Neural Network Electrocardiogram Mamba is introduced, in which convolutional feature extraction is combined with Mamba, a selective state space model designed for effective sequence modeling. The model is built upon Vision Mamba, a bidirectional variant through which the representation of temporal dependencies in electrocardiogram data is enhanced. Comprehensive experiments on the PhysioNet Computing in Cardiology Challenges of 2020 and 2021 were conducted, and superior performance compared with existing methods was achieved. Specifically, the proposed model achieved substantially higher AUPRC and AUROC scores than those reported by the best previously published algorithms on twelve lead electrocardiograms. These results demonstrate the potential of Mamba-based architectures to advance reliable ECG classification. This capability supports early diagnosis and personalized treatment, while enhancing accessibility in telemedicine and resource-constrained healthcare systems.

Accurate, continuous out-of-hospital electrocardiogram (ECG) parameter measurement is vital for real-time cardiac health monitoring and telemedicine. On-device computation of single-lead ECG parameters enables timely assessment without reliance on centralized data processing, advancing personalized, ubiquitous cardiac care-yet comprehensive validation across heterogeneous real-world populations remains limited. This study validated the on-device algorithm FeatureDB (https://github.com/PKUDigitalHealth/FeatureDB) using two datasets: HeartVoice-ECG-lite (369 participants with single-lead ECGs annotated by two physicians) and PTB-XL/PTB-XL+ (21,354 patients with 12-lead ECGs and physicians' diagnostic annotations). FeatureDB computed PR, QT, and QTc intervals, with accuracy evaluated against physician annotations via mean absolute error (MAE), correlation analysis, and Bland-Altman analysis. Diagnostic performance for first-degree atrioventricular block (AVBI, PR-based) and long QT syndrome (LQT, QTc-based) was benchmarked against commercial 12-lead systems (12SL, Uni-G) and open-source algorithm Deli, using AUC, accuracy, sensitivity, and specificity. Results showed high concordance with expert annotations (Pearson correlations: 0.836-0.960), MAEs matching inter-observer variability, and minimal bias. AVBI AUC reached 0.787 (12SL: 0.859; Uni-G: 0.812; Deli: 0.501); LQT AUC was 0.684 (12SL: 0.716; Uni-G: 0.605; Deli: 0.569)-comparable to commercial tools and superior to open-source alternatives. FeatureDB delivers physician-level parameter accuracy and commercial-grade abnormality detection via single-lead devices, supporting scalable telemedicine, decentralized cardiac screening, and continuous monitoring in community and outpatient settings.

Echocardiography is the most widely used cardiac imaging modality, capturing ultrasound video data to assess cardiac structure and function. Artificial intelligence (AI) in echocardiography has the potential to streamline manual tasks and improve reproducibility and precision. However, most echocardiography AI models are single-view, single-task systems that do not synthesize complementary information from multiple views captured during a full exam, and thus lead to limited performance and scope of applications. To address this problem, we introduce EchoPrime, a multi-view, view-informed, video-based vision-language foundation model trained on over 12 million video-report pairs. EchoPrime uses contrastive learning to train a unified embedding model for all standard views in a comprehensive echocardiogram study with representation of both rare and common diseases and diagnoses. EchoPrime then utilizes view-classification and a view-informed anatomic attention model to weight video-specific interpretations that accurately maps the relationship between echocardiographic views and anatomical structures. With retrieval-augmented interpretation, EchoPrime integrates information from all echocardiogram videos in a comprehensive study and performs holistic comprehensive clinical echocardiography interpretation. In datasets from two independent healthcare systems, EchoPrime achieves state-of-the art performance on 23 diverse benchmarks of cardiac form and function, surpassing the performance of both task-specific approaches and prior foundation models. Following rigorous clinical evaluation, EchoPrime can assist physicians in the automated preliminary assessment of comprehensive echocardiography.

Electrocardiography (ECG) serves as an indispensable diagnostic tool in clinical practice, yet existing multimodal large language models (MLLMs) remain unreliable for ECG interpretation, often producing plausible but clinically incorrect analyses. To address this, we propose ECG-R1, the first reasoning MLLM designed for reliable ECG interpretation via three innovations. First, we construct the interpretation corpus using Protocol-Guided Instruction Data Generation, grounding interpretation in measurable ECG features and monograph-defined quantitative thresholds and diagnostic logic. Second, we present a modality-decoupled architecture with Interleaved Modality Dropout to improve robustness and cross-modal consistency when either the ECG signal or ECG image is missing. Third, we present Reinforcement Learning with ECG Diagnostic Evidence Rewards to strengthen evidence-grounded ECG interpretation. Additionally, we systematically evaluate the ECG interpretation capabilities of proprietary, open-source, and medical MLLMs, and provide the first quantitative evidence that severe hallucinations are widespread, suggesting that the public should not directly trust these outputs without independent verification. Code and data are publicly available at https://github.com/PKUDigitalHealth/ECG-R1{here}, and an online platform can be accessed at http://ai.heartvoice.com.cn/ECG-R1/{here}.

We present ECG-Expert-QA, a comprehensive multimodal dataset for evaluating diagnostic capabilities in electrocardiogram (ECG) interpretation. It combines real-world clinical ECG data with systematically generated synthetic cases, covering 12 essential diagnostic tasks and totaling 47,211 expert-validated QA pairs. These encompass diverse clinical scenarios, from basic rhythm recognition to complex diagnoses involving rare conditions and temporal changes. A key innovation is the support for multi-turn dialogues, enabling the development of conversational medical AI systems that emulate clinician-patient or interprofessional interactions. This allows for more realistic assessment of AI models' clinical reasoning, diagnostic accuracy, and knowledge integration. Constructed through a knowledge-guided framework with strict quality control, ECG-Expert-QA ensures linguistic and clinical consistency, making it a high-quality resource for advancing AI-assisted ECG interpretation. It challenges models with tasks like identifying subtle ischemic changes and interpreting complex arrhythmias in context-rich scenarios. To promote research transparency and collaboration, the dataset, accompanying code, and prompts are publicly released at https://github.com/Zaozzz/ECG-Expert-QA

Pulmonary Hypertension (PH) is a severe disease characterized by an elevated pulmonary artery pressure. The gold standard for PH diagnosis is measurement of mean Pulmonary Artery Pressure (mPAP) during an invasive Right Heart Catheterization. In this paper, we investigate noninvasive approach to PH detection utilizing Magnetic Resonance Imaging, Computer Models and Machine Learning. We show using the ablation study, that physics-informed feature engineering based on models of blood circulation increases the performance of Gradient Boosting Decision Trees-based algorithms for classification of PH and regression of values of mPAP. We compare results of regression (with thresholding of estimated mPAP) and classification and demonstrate that metrics achieved in both experiments are comparable. The predicted mPAP values are more informative to the physicians than the probability of PH returned by classification models. They provide the intuitive explanation of the outcome of the machine learning model (clinicians are accustomed to the mPAP metric, contrary to the PH probability).

Reading and interpreting chest X-ray images is one of the most radiologist's routines. However, it still can be challenging, even for the most experienced ones. Therefore, we proposed a multi-model deep learning-based automated chest X-ray report generator system designed to assist radiologists in their work. The basic idea of the proposed system is by utilizing multi binary-classification models for detecting multi abnormalities, with each model responsible for detecting one abnormality, in a single image. In this study, we limited the radiology abnormalities detection to only cardiomegaly, lung effusion, and consolidation. The system generates a radiology report by performing the following three steps: image pre-processing, utilizing deep learning models to detect abnormalities, and producing a report. The aim of the image pre-processing step is to standardize the input by scaling it to 128x128 pixels and slicing it into three segments, which covers the upper, lower, and middle parts of the lung. After pre-processing, each corresponding model classifies the image, resulting in a 0 (zero) for no abnormality detected and a 1 (one) for the presence of an abnormality. The prediction outputs of each model are then concatenated to form a 'result code'. The 'result code' is used to construct a report by selecting the appropriate pre-determined sentence for each detected abnormality in the report generation step. The proposed system is expected to reduce the workload of radiologists and increase the accuracy of chest X-ray diagnosis.

Electrocardiograms (ECGs) are among the most widely used diagnostic tools for cardiovascular diseases, and a large amount of ECG data worldwide appears only in image form. However, most existing automated ECG analysis methods rely on access to raw signal recordings, limiting their applicability in real-world and resource-constrained settings. In this paper, we present ECG-Scan, a self-supervised framework for learning clinically generalized representations from ECG images through dual physiological-aware alignments: 1) Our approach optimizes image representation learning using multimodal contrastive alignment between image and gold-standard signal-text modalities. 2) We further integrate domain knowledge via soft-lead constraints, regularizing the reconstruction process and improving signal lead inter-consistency. Extensive benchmarking across multiple datasets and downstream tasks demonstrates that our image-based model achieves superior performance compared to existing image baselines and notably narrows the gap between ECG image and signal analysis. These results highlight the potential of self-supervised image modeling to unlock large-scale legacy ECG data and broaden access to automated cardiovascular diagnostics.

Electrocardiogram (ECG) is essential for the clinical diagnosis of arrhythmias and other heart diseases, but deep learning methods based on ECG often face limitations due to the need for high-quality annotations. Although previous ECG self-supervised learning (eSSL) methods have made significant progress in representation learning from unannotated ECG data, they typically treat ECG signals as ordinary time-series data, segmenting the signals using fixed-size and fixed-step time windows, which often ignore the form and rhythm characteristics and latent semantic relationships in ECG signals. In this work, we introduce a novel perspective on ECG signals, treating heartbeats as words and rhythms as sentences. Based on this perspective, we first designed the QRS-Tokenizer, which generates semantically meaningful ECG sentences from the raw ECG signals. Building on these, we then propose HeartLang, a novel self-supervised learning framework for ECG language processing, learning general representations at form and rhythm levels. Additionally, we construct the largest heartbeat-based ECG vocabulary to date, which will further advance the development of ECG language processing. We evaluated HeartLang across six public ECG datasets, where it demonstrated robust competitiveness against other eSSL methods. Our data and code are publicly available at https://github.com/PKUDigitalHealth/HeartLang.

Electrocardiogram (ECG) is a widely used tool for assessing cardiac function due to its low cost and accessibility. Emergent research shows that ECGs can help make predictions on key outcomes traditionally derived from more complex modalities such as echocardiograms (ECHO), enabling the use of ECGs as a more accessible method to predict broader measurements of cardiac function. ECHO, in particular, are of great importance because they require considerable hospital resources while playing a key role in clinical cardiac assessment. To aid this use case, we introduce EchoingECG, a probabilistic student-teacher model that leverages uncertainty-aware ECG embeddings and ECHO supervision to improve ECG-based cardiac function prediction. Our approach integrates Probabilistic Cross-Modal Embeddings (PCME++), a probabilistic contrastive framework, with ECHO-CLIP, a vision-language pre-trained model trained on ECHO-text pairs, to distill ECHO knowledge into ECG representations. Through experiments and external validation, we showed that EchoingECG outperforms state-of-the-art foundation ECG models in zero-shot, few-shot, and fine-tune settings for ECHO predictions based on ECG. We also highlighted that variance estimation (enabled through our method) enhanced our understanding of model performance by identifying underlying regions of uncertainty within ECGs. The code is available: https://github.com/mcintoshML/EchoingECG.

Cardiac magnetic resonance (CMR) is a key investigation in clinical cardiovascular medicine and has been used extensively in population research. However, extracting clinically important measurements such as ejection fraction for diagnosing cardiovascular diseases remains time-consuming and subjective. We developed CineMA, a foundation AI model automating these tasks with limited labels. CineMA is a self-supervised autoencoder model trained on 74,916 cine CMR studies to reconstruct images from masked inputs. After fine-tuning, it was evaluated across eight datasets on 23 tasks from four categories: ventricle and myocardium segmentation, left and right ventricle ejection fraction calculation, disease detection and classification, and landmark localisation. CineMA is the first foundation model for cine CMR to match or outperform convolutional neural networks (CNNs). CineMA demonstrated greater label efficiency than CNNs, achieving comparable or better performance with fewer annotations. This reduces the burden of clinician labelling and supports replacing task-specific training with fine-tuning foundation models in future cardiac imaging applications. Models and code for pre-training and fine-tuning are available at https://github.com/mathpluscode/CineMA, democratising access to high-performance models that otherwise require substantial computational resources, promoting reproducibility and accelerating clinical translation.

This study aims to develop and evaluate an ensemble machine learning-based framework for the automatic detection of Wide QRS Complex Tachycardia (WCT) from ECG signals, emphasizing diagnostic accuracy and interpretability using Explainable AI. The proposed system integrates ensemble learning techniques, i.e., an optimized Random Forest known as CardioForest, and models like XGBoost and LightGBM. The models were trained and tested on ECG data from the publicly available MIMIC-IV dataset. The testing was carried out with the assistance of accuracy, balanced accuracy, precision, recall, F1 score, ROC-AUC, and error rate (RMSE, MAE) measures. In addition, SHAP (SHapley Additive exPlanations) was used to ascertain model explainability and clinical relevance. The CardioForest model performed best on all metrics, achieving a test accuracy of 94.95%, a balanced accuracy of 88.31%, and high precision and recall metrics. SHAP analysis confirmed the model's ability to rank the most relevant ECG features, such as QRS duration, in accordance with clinical intuitions, thereby fostering trust and usability in clinical practice. The findings recognize CardioForest as an extremely dependable and interpretable WCT detection model. Being able to offer accurate predictions and transparency through explainability makes it a valuable tool to help cardiologists make timely and well-informed diagnoses, especially for high-stakes and emergency scenarios.

Electrocardiograms (ECGs) play a vital role in monitoring cardiac health and diagnosing heart diseases. However, traditional deep learning approaches for ECG analysis rely heavily on large-scale manual annotations, which are both time-consuming and resource-intensive to obtain. To overcome this limitation, self-supervised learning (SSL) has emerged as a promising alternative, enabling the extraction of robust ECG representations that can be efficiently transferred to various downstream tasks. While previous studies have explored SSL for ECG pretraining and multi-modal ECG-language alignment, they often fail to capture the multi-scale nature of ECG signals. As a result, these methods struggle to learn generalized representations due to their inability to model the hierarchical structure of ECG data. To address this gap, we introduce MELP, a novel Multi-scale ECG-Language Pretraining (MELP) model that fully leverages hierarchical supervision from ECG-text pairs. MELP first pretrains a cardiology-specific language model to enhance its understanding of clinical text. It then applies three levels of cross-modal supervision-at the token, beat, and rhythm levels-to align ECG signals with textual reports, capturing structured information across different time scales. We evaluate MELP on three public ECG datasets across multiple tasks, including zero-shot ECG classification, linear probing, and transfer learning. Experimental results demonstrate that MELP outperforms existing SSL methods, underscoring its effectiveness and adaptability across diverse clinical applications. Our code is available at https://github.com/HKU-MedAI/MELP.

Electrocardiogram (ECG) interpretation requires specialized expertise, often involving synthesizing insights from ECG signals with complex clinical queries posed in natural language. The scarcity of labeled ECG data coupled with the diverse nature of clinical inquiries presents a significant challenge for developing robust and adaptable ECG diagnostic systems. This work introduces a novel multimodal meta-learning method for few-shot ECG question answering, addressing the challenge of limited labeled data while leveraging the rich knowledge encoded within large language models (LLMs). Our LLM-agnostic approach integrates a pre-trained ECG encoder with a frozen LLM (e.g., LLaMA and Gemma) via a trainable fusion module, enabling the language model to reason about ECG data and generate clinically meaningful answers. Extensive experiments demonstrate superior generalization to unseen diagnostic tasks compared to supervised baselines, achieving notable performance even with limited ECG leads. For instance, in a 5-way 5-shot setting, our method using LLaMA-3.1-8B achieves accuracy of 84.6%, 77.3%, and 69.6% on single verify, choose and query question types, respectively. These results highlight the potential of our method to enhance clinical ECG interpretation by combining signal processing with the nuanced language understanding capabilities of LLMs, particularly in data-constrained scenarios.

Coronary artery disease (CAD) remains the leading cause of death globally and invasive coronary angiography (ICA) is considered the gold standard of anatomical imaging evaluation when CAD is suspected. However, risk evaluation based on ICA has several limitations, such as visual assessment of stenosis severity, which has significant interobserver variability. This motivates to development of a lesion classification system that can support specialists in their clinical procedures. Although deep learning classification methods are well-developed in other areas of medical imaging, ICA image classification is still at an early stage. One of the most important reasons is the lack of available and high-quality open-access datasets. In this paper, we reported a new annotated ICA images dataset, CADICA, to provide the research community with a comprehensive and rigorous dataset of coronary angiography consisting of a set of acquired patient videos and associated disease-related metadata. This dataset can be used by clinicians to train their skills in angiographic assessment of CAD severity and by computer scientists to create computer-aided diagnostic systems to help in such assessment. In addition, baseline classification methods are proposed and analyzed, validating the functionality of CADICA and giving the scientific community a starting point to improve CAD detection.

The electrocardiogram (ECG) is an essential non-invasive diagnostic tool for assessing cardiac conditions. Existing automatic interpretation methods suffer from limited generalizability, focusing on a narrow range of cardiac conditions, and typically depend on raw physiological signals, which may not be readily available in resource-limited settings where only printed or digital ECG images are accessible. Recent advancements in multimodal large language models (MLLMs) present promising opportunities for addressing these challenges. However, the application of MLLMs to ECG image interpretation remains challenging due to the lack of instruction tuning datasets and well-established ECG image benchmarks for quantitative evaluation. To address these challenges, we introduce ECGInstruct, a comprehensive ECG image instruction tuning dataset of over one million samples, covering a wide range of ECG-related tasks from diverse data sources. Using ECGInstruct, we develop PULSE, an MLLM tailored for ECG image comprehension. In addition, we curate ECGBench, a new evaluation benchmark covering four key ECG image interpretation tasks across nine different datasets. Our experiments show that PULSE sets a new state-of-the-art, outperforming general MLLMs with an average accuracy improvement of 15% to 30%. This work highlights the potential of PULSE to enhance ECG interpretation in clinical practice.

Accurate segmentation is essential for echocardiography-based assessment of cardiovascular diseases (CVDs). However, the variability among sonographers and the inherent challenges of ultrasound images hinder precise segmentation. By leveraging the joint representation of image and text modalities, Vision-Language Segmentation Models (VLSMs) can incorporate rich contextual information, potentially aiding in accurate and explainable segmentation. However, the lack of readily available data in echocardiography hampers the training of VLSMs. In this study, we explore using synthetic datasets from Semantic Diffusion Models (SDMs) to enhance VLSMs for echocardiography segmentation. We evaluate results for two popular VLSMs (CLIPSeg and CRIS) using seven different kinds of language prompts derived from several attributes, automatically extracted from echocardiography images, segmentation masks, and their metadata. Our results show improved metrics and faster convergence when pretraining VLSMs on SDM-generated synthetic images before finetuning on real images. The code, configs, and prompts are available at https://github.com/naamiinepal/synthetic-boost.

Electrocardiograms (ECGs) are non-invasive diagnostic tools crucial for detecting cardiac arrhythmic diseases in clinical practice. While ECG Self-supervised Learning (eSSL) methods show promise in representation learning from unannotated ECG data, they often overlook the clinical knowledge that can be found in reports. This oversight and the requirement for annotated samples for downstream tasks limit eSSL's versatility. In this work, we address these issues with the Multimodal ECG Representation Learning (MERL}) framework. Through multimodal learning on ECG records and associated reports, MERL is capable of performing zero-shot ECG classification with text prompts, eliminating the need for training data in downstream tasks. At test time, we propose the Clinical Knowledge Enhanced Prompt Engineering (CKEPE) approach, which uses Large Language Models (LLMs) to exploit external expert-verified clinical knowledge databases, generating more descriptive prompts and reducing hallucinations in LLM-generated content to boost zero-shot classification. Based on MERL, we perform the first benchmark across six public ECG datasets, showing the superior performance of MERL compared against eSSL methods. Notably, MERL achieves an average AUC score of 75.2% in zero-shot classification (without training data), 3.2% higher than linear probed eSSL methods with 10\% annotated training data, averaged across all six datasets. Code and models are available at https://github.com/cheliu-computation/MERL

Coronary stenosis is a major risk factor for ischemic heart events leading to increased mortality, and medical treatments for this condition require meticulous, labor-intensive analysis. Coronary angiography provides critical visual cues for assessing stenosis, supporting clinicians in making informed decisions for diagnosis and treatment. Recent advances in deep learning have shown great potential for automated localization and severity measurement of stenosis. In real-world scenarios, however, the success of these competent approaches is often hindered by challenges such as limited labeled data and class imbalance. In this study, we propose a novel data augmentation approach that uses an inpainting method based on a diffusion model to generate realistic lesions, allowing user-guided control of severity. Extensive evaluation on lesion detection and severity classification across various synthetic dataset sizes shows superior performance of our method on both a large-scale in-house dataset and a public coronary angiography dataset. Furthermore, our approach maintains high detection and classification performance even when trained with limited data, highlighting its clinical importance in improving the assessment of severity of stenosis and optimizing data utilization for more reliable decision support.

Electrocardiogram (ECG) interpretation is a cornerstone of cardiac diagnostics. This paper explores a practical approach to enhance ECG image interpretation using the multimodal LLaMA 3.2 model. We used a parameter-efficient fine-tuning strategy, Low-Rank Adaptation (LoRA), specifically designed to boost the model's ability to understand ECG images and achieve better outcomes across a wide range of cardiac conditions. Our method is tailored for ECG analysis and leverages ECGInstruct, a large-scale instruction dataset with 1 Million samples. This dataset is a rich collection of synthesized ECG images, generated from raw ECG data from trusted open-source repositories like MIMIC-IV ECG and PTB-XL. Each ECG image in ECGInstruct comes with expert-written questions and detailed answers, covering diverse ECG interpretation scenarios, including complex cardiac conditions like Myocardial Infarction and Conduction Disturbances. Our fine-tuning approach efficiently adapts the LLaMA 3.2 model (built upon LLaMA 3) by integrating low-rank adaptation techniques, focusing on efficiency by updating only a small set of parameters, specifically ignoring the `lm_head` and `embed_tokens` layers. This paper details the model setup, our efficient fine-tuning method, and implementation specifics. We provide a thorough evaluation through extensive experiments, demonstrating the effectiveness of our method across various ECG interpretation tasks. The results convincingly show that our parameter-efficient LoRA fine-tuning achieves excellent performance in ECG image interpretation, significantly outperforming baseline models and reaching accuracy comparable to or exceeding traditional CNN-based methods in identifying a wide range of cardiac abnormalities, including over 70 conditions from the PTB-XL dataset.

The electrocardiogram (ECG) is a dependable instrument for assessing the function of the cardiovascular system. There has recently been much emphasis on precisely classifying ECGs. While ECG situations have numerous similarities, little attention has been paid to categorizing ECGs using graph neural networks. In this study, we offer three distinct techniques for classifying heartbeats using deep graph neural networks to classify the ECG signals accurately. We suggest using different methods to extract topological features from the ECG signal and then using a branch of the graph neural network named graph isomorphism network for classifying the ECGs. On the PTB Diagnostics data set, we tested the three proposed techniques. According to the findings, the three proposed techniques are capable of making arrhythmia classification predictions with the accuracy of 99.38, 98.76, and 91.93 percent, respectively.

Objective: To transform heterogeneous clinical data from electronic health records into clinically meaningful constructed features using data driven method that rely, in part, on temporal relations among data. Materials and Methods: The clinically meaningful representations of medical concepts and patients are the key for health analytic applications. Most of existing approaches directly construct features mapped to raw data (e.g., ICD or CPT codes), or utilize some ontology mapping such as SNOMED codes. However, none of the existing approaches leverage EHR data directly for learning such concept representation. We propose a new way to represent heterogeneous medical concepts (e.g., diagnoses, medications and procedures) based on co-occurrence patterns in longitudinal electronic health records. The intuition behind the method is to map medical concepts that are co-occuring closely in time to similar concept vectors so that their distance will be small. We also derive a simple method to construct patient vectors from the related medical concept vectors. Results: For qualitative evaluation, we study similar medical concepts across diagnosis, medication and procedure. In quantitative evaluation, our proposed representation significantly improves the predictive modeling performance for onset of heart failure (HF), where classification methods (e.g. logistic regression, neural network, support vector machine and K-nearest neighbors) achieve up to 23% improvement in area under the ROC curve (AUC) using this proposed representation. Conclusion: We proposed an effective method for patient and medical concept representation learning. The resulting representation can map relevant concepts together and also improves predictive modeling performance.

Echocardiography (ECHO) is essential for cardiac assessments, but its video quality and interpretation heavily relies on manual expertise, leading to inconsistent results from clinical and portable devices. ECHO video generation offers a solution by improving automated monitoring through synthetic data and generating high-quality videos from routine health data. However, existing models often face high computational costs, slow inference, and rely on complex conditional prompts that require experts' annotations. To address these challenges, we propose ECHOPULSE, an ECG-conditioned ECHO video generation model. ECHOPULSE introduces two key advancements: (1) it accelerates ECHO video generation by leveraging VQ-VAE tokenization and masked visual token modeling for fast decoding, and (2) it conditions on readily accessible ECG signals, which are highly coherent with ECHO videos, bypassing complex conditional prompts. To the best of our knowledge, this is the first work to use time-series prompts like ECG signals for ECHO video generation. ECHOPULSE not only enables controllable synthetic ECHO data generation but also provides updated cardiac function information for disease monitoring and prediction beyond ECG alone. Evaluations on three public and private datasets demonstrate state-of-the-art performance in ECHO video generation across both qualitative and quantitative measures. Additionally, ECHOPULSE can be easily generalized to other modality generation tasks, such as cardiac MRI, fMRI, and 3D CT generation. Demo can seen from https://github.com/levyisthebest/ECHOPulse_Prelease.

Interpreting electrocardiograms (ECGs) and generating comprehensive reports remain challenging tasks in cardiology, often requiring specialized expertise and significant time investment. To address these critical issues, we propose ECG-ReGen, a retrieval-based approach for ECG-to-text report generation and question answering. Our method leverages a self-supervised learning for the ECG encoder, enabling efficient similarity searches and report retrieval. By combining pre-training with dynamic retrieval and Large Language Model (LLM)-based refinement, ECG-ReGen effectively analyzes ECG data and answers related queries, with the potential of improving patient care. Experiments conducted on the PTB-XL and MIMIC-IV-ECG datasets demonstrate superior performance in both in-domain and cross-domain scenarios for report generation. Furthermore, our approach exhibits competitive performance on ECG-QA dataset compared to fully supervised methods when utilizing off-the-shelf LLMs for zero-shot question answering. This approach, effectively combining self-supervised encoder and LLMs, offers a scalable and efficient solution for accurate ECG interpretation, holding significant potential to enhance clinical decision-making.

Prototype-based neural networks offer interpretable predictions by comparing inputs to learned, representative signal patterns anchored in training data. While such models have shown promise in the classification of physiological data, it remains unclear whether their prototypes capture an underlying structure that aligns with broader clinical phenotypes. We use a prototype-based deep learning model trained for multi-label ECG classification using the PTB-XL dataset. Then without modification we performed inference on the MIMIC-IV clinical database. We assess whether individual prototypes, trained solely for classification, are associated with hospital discharge diagnoses in the form of phecodes in this external population. Individual prototypes demonstrate significantly stronger and more specific associations with clinical outcomes compared to the classifier's class predictions, NLP-extracted concepts, or broader prototype classes across all phecode categories. Prototype classes with mixed significance patterns exhibit significantly greater intra-class distances (p < 0.0001), indicating the model learned to differentiate clinically meaningful variations within diagnostic categories. The prototypes achieve strong predictive performance across diverse conditions, with AUCs ranging from 0.89 for atrial fibrillation to 0.91 for heart failure, while also showing substantial signal for non-cardiac conditions such as sepsis and renal disease. These findings suggest that prototype-based models can support interpretable digital phenotyping from physiologic time-series data, providing transferable intermediate phenotypes that capture clinically meaningful physiologic signatures beyond their original training objectives.

Cardiac Magnetic Resonance (CMR) imaging serves as the gold-standard for evaluating cardiac morphology and function. Typically, a multi-view CMR stack, covering short-axis (SA) and 2/3/4-chamber long-axis (LA) views, is acquired for a thorough cardiac assessment. However, efficiently streamlining the complex, high-dimensional 3D+T CMR data and distilling compact, coherent representation remains a challenge. In this work, we introduce a whole-heart self-supervised learning framework that utilizes masked imaging modeling to automatically uncover the correlations between spatial and temporal patches throughout the cardiac stacks. This process facilitates the generation of meaningful and well-clustered heart representations without relying on the traditionally required, and often costly, labeled data. The learned heart representation can be directly used for various downstream tasks. Furthermore, our method demonstrates remarkable robustness, ensuring consistent representations even when certain CMR planes are missing/flawed. We train our model on 14,000 unlabeled CMR data from UK BioBank and evaluate it on 1,000 annotated data. The proposed method demonstrates superior performance to baselines in tasks that demand comprehensive 3D+T cardiac information, e.g. cardiac phenotype (ejection fraction and ventricle volume) prediction and multi-plane/multi-frame CMR segmentation, highlighting its effectiveness in extracting comprehensive cardiac features that are both anatomically and pathologically relevant.

Heart diseases remain the leading cause of mortality worldwide, implying approximately 18 million deaths according to the WHO. In particular, heart failures (HF) press the healthcare industry to develop systems for their early, rapid, and effective prediction. This work presents an automatic system based on a novel framework which combines Modal Decomposition and Masked Autoencoders (MAE) to extend the application from heart disease classification to the more challenging and specific task of heart failure time prediction, not previously addressed to the best of authors' knowledge. This system comprises two stages. The first one transforms the data from a database of echocardiography video sequences into a large collection of annotated images compatible with the training phase of machine learning-based frameworks and deep learning-based ones. This stage includes the use of the Higher Order Dynamic Mode Decomposition (HODMD) algorithm for both data augmentation and feature extraction. The second stage builds and trains a Vision Transformer (ViT). MAEs based on a combined scheme of self-supervised (SSL) and supervised learning, so far barely explored in the literature about heart failure prediction, are adopted to effectively train the ViT from scratch, even with scarce databases. The designed neural network analyses in real-time images from echocardiography sequences to estimate the time of happening a heart failure. This approach demonstrates to improve prediction accuracy from scarce databases and to be superior to several established ViT and Convolutional Neural Network (CNN) architectures. The source code will be incorporated into the next version release of the ModelFLOWs-app software (https://github.com/modelflows/ModelFLOWs-app).

Pulmonary embolism (PE) is a life-threatening condition where rapid and accurate diagnosis is imperative yet difficult due to predominantly atypical symptomatology. Computed tomography pulmonary angiography (CTPA) is acknowledged as the gold standard imaging tool in clinics, yet it can be contraindicated for emergency department (ED) patients and represents an onerous procedure, thus necessitating PE identification through non-contrast CT (NCT) scans. In this work, we explore the feasibility of applying a deep-learning approach to NCT scans for PE identification. We propose a novel Cross-Phase Mutual learNing framework (CPMN) that fosters knowledge transfer from CTPA to NCT, while concurrently conducting embolism segmentation and abnormality classification in a multi-task manner. The proposed CPMN leverages the Inter-Feature Alignment (IFA) strategy that enhances spatial contiguity and mutual learning between the dual-pathway network, while the Intra-Feature Discrepancy (IFD) strategy can facilitate precise segmentation of PE against complex backgrounds for single-pathway networks. For a comprehensive assessment of the proposed approach, a large-scale dual-phase dataset containing 334 PE patients and 1,105 normal subjects has been established. Experimental results demonstrate that CPMN achieves the leading identification performance, which is 95.4\% and 99.6\% in patient-level sensitivity and specificity on NCT scans, indicating the potential of our approach as an economical, accessible, and precise tool for PE identification in clinical practice.

Clinical diagnosis is a highly specialized discipline requiring both domain expertise and strict adherence to rigorous guidelines. While current AI-driven medical research predominantly focuses on knowledge graphs or natural text pretraining paradigms to incorporate medical knowledge, these approaches primarily rely on implicitly encoded knowledge within model parameters, neglecting task-specific knowledge required by diverse downstream tasks. To address this limitation, we propose Retrieval-Augmented Diagnosis (RAD), a novel framework that explicitly injects external knowledge into multimodal models directly on downstream tasks. Specifically, RAD operates through three key mechanisms: retrieval and refinement of disease-centered knowledge from multiple medical sources, a guideline-enhanced contrastive loss that constrains the latent distance between multi-modal features and guideline knowledge, and the dual transformer decoder that employs guidelines as queries to steer cross-modal fusion, aligning the models with clinical diagnostic workflows from guideline acquisition to feature extraction and decision-making. Moreover, recognizing the lack of quantitative evaluation of interpretability for multimodal diagnostic models, we introduce a set of criteria to assess the interpretability from both image and text perspectives. Extensive evaluations across four datasets with different anatomies demonstrate RAD's generalizability, achieving state-of-the-art performance. Furthermore, RAD enables the model to concentrate more precisely on abnormal regions and critical indicators, ensuring evidence-based, trustworthy diagnosis. Our code is available at https://github.com/tdlhl/RAD.

Chest X-rays are widely used to diagnose thoracic diseases, but the lack of detailed information about these abnormalities makes it challenging to develop accurate automated diagnosis systems, which is crucial for early detection and effective treatment. To address this challenge, we employed deep learning techniques to identify patterns in chest X-rays that correspond to different diseases. We conducted experiments on the "ChestX-ray14" dataset using various pre-trained CNNs, transformers, hybrid(CNN+Transformer) models and classical models. The best individual model was the CoAtNet, which achieved an area under the receiver operating characteristic curve (AUROC) of 84.2%. By combining the predictions of all trained models using a weighted average ensemble where the weight of each model was determined using differential evolution, we further improved the AUROC to 85.4%, outperforming other state-of-the-art methods in this field. Our findings demonstrate the potential of deep learning techniques, particularly ensemble deep learning, for improving the accuracy of automatic diagnosis of thoracic diseases from chest X-rays. Code available at:https://github.com/syednabilashraf/SynthEnsemble

Foundation models have demonstrated remarkable potential in medical domain. However, their application to complex cardiovascular diagnostics remains underexplored. In this paper, we present Cardiac-CLIP, a multi-modal foundation model designed for 3D cardiac CT images. Cardiac-CLIP is developed through a two-stage pre-training strategy. The first stage employs a 3D masked autoencoder (MAE) to perform self-supervised representation learning from large-scale unlabeled volumetric data, enabling the visual encoder to capture rich anatomical and contextual features. In the second stage, contrastive learning is introduced to align visual and textual representations, facilitating cross-modal understanding. To support the pre-training, we collect 16641 real clinical CT scans, supplemented by 114k publicly available data. Meanwhile, we standardize free-text radiology reports into unified templates and construct the pathology vectors according to diagnostic attributes, based on which the soft-label matrix is generated to supervise the contrastive learning process. On the other hand, to comprehensively evaluate the effectiveness of Cardiac-CLIP, we collect 6,722 real-clinical data from 12 independent institutions, along with the open-source data to construct the evaluation dataset. Specifically, Cardiac-CLIP is comprehensively evaluated across multiple tasks, including cardiovascular abnormality classification, information retrieval and clinical analysis. Experimental results demonstrate that Cardiac-CLIP achieves state-of-the-art performance across various downstream tasks in both internal and external data. Particularly, Cardiac-CLIP exhibits great effectiveness in supporting complex clinical tasks such as the prospective prediction of acute coronary syndrome, which is notoriously difficult in real-world scenarios.

Large, labeled datasets have driven deep learning methods to achieve expert-level performance on a variety of medical imaging tasks. We present CheXpert, a large dataset that contains 224,316 chest radiographs of 65,240 patients. We design a labeler to automatically detect the presence of 14 observations in radiology reports, capturing uncertainties inherent in radiograph interpretation. We investigate different approaches to using the uncertainty labels for training convolutional neural networks that output the probability of these observations given the available frontal and lateral radiographs. On a validation set of 200 chest radiographic studies which were manually annotated by 3 board-certified radiologists, we find that different uncertainty approaches are useful for different pathologies. We then evaluate our best model on a test set composed of 500 chest radiographic studies annotated by a consensus of 5 board-certified radiologists, and compare the performance of our model to that of 3 additional radiologists in the detection of 5 selected pathologies. On Cardiomegaly, Edema, and Pleural Effusion, the model ROC and PR curves lie above all 3 radiologist operating points. We release the dataset to the public as a standard benchmark to evaluate performance of chest radiograph interpretation models. The dataset is freely available at https://stanfordmlgroup.github.io/competitions/chexpert .

Electrocardiography (ECG) signal generation has been heavily explored using generative adversarial networks (GAN) because the implementation of 12-lead ECGs is not always feasible. The GAN models have achieved remarkable results in reproducing ECG signals but are only designed for multiple lead inputs and the features the GAN model preserves have not been identified-limiting the generated signals use in cardiovascular disease (CVD)-predictive models. This paper presents ECGNet which is a procedure that generates a complete set of 12-lead ECG signals from any single lead input using a GAN framework with a bidirectional long short-term memory (LSTM) generator and a convolutional neural network (CNN) discriminator. Cross and auto-correlation analysis performed on the generated signals identifies features conserved during the signal generation-i.e., features that can characterize the unique-nature of each signal and thus likely indicators of CVD. Finally, by using ECG signals annotated with the CVD-indicative features detailed by the correlation analysis as inputs for a CVD-onset-predictive CNN model, we overcome challenges preventing the prediction of multiple-CVD targets. Our models are experimented on 15s 12-lead ECG dataset recorded using MyoVista's wavECG. Functional outcome data for each patient is recorded and used in the CVD-predictive model. Our best GAN model achieves state-of-the-art accuracy with Frechet Distance (FD) scores of 4.73, 4.89, 5.18, 4.77, 4.71, and 5.55 on the V1-V6 pre-cordial leads respectively and shows strength in preserving the P-Q segments and R-peaks in the generated signals. To the best of our knowledge, ECGNet is the first to predict all of the remaining eleven leads from the input of any single lead.

Rationale: Computer aided detection (CAD) algorithms for Pulmonary Embolism (PE) algorithms have been shown to increase radiologists' sensitivity with a small increase in specificity. However, CAD for PE has not been adopted into clinical practice, likely because of the high number of false positives current CAD software produces. Objective: To generate a database of annotated computed tomography pulmonary angiographies, use it to compare the sensitivity and false positive rate of current algorithms and to develop new methods that improve such metrics. Methods: 91 Computed tomography pulmonary angiography scans were annotated by at least one radiologist by segmenting all pulmonary emboli visible on the study. 20 annotated CTPAs were open to the public in the form of a medical image analysis challenge. 20 more were kept for evaluation purposes. 51 were made available post-challenge. 8 submissions, 6 of them novel, were evaluated on the 20 evaluation CTPAs. Performance was measured as per embolus sensitivity vs. false positives per scan curve. Results: The best algorithms achieved a per-embolus sensitivity of 75% at 2 false positives per scan (fps) or of 70% at 1 fps, outperforming the state of the art. Deep learning approaches outperformed traditional machine learning ones, and their performance improved with the number of training cases. Significance: Through this work and challenge we have improved the state-of-the art of computer aided detection algorithms for pulmonary embolism. An open database and an evaluation benchmark for such algorithms have been generated, easing the development of further improvements. Implications on clinical practice will need further research.

Human health can be critically affected by cardiovascular diseases, such as hypertension, arrhythmias, and stroke. Heart rate and blood pressure are important biometric information for the monitoring of cardiovascular system and early diagnosis of cardiovascular diseases. Existing methods for estimating the heart rate are based on electrocardiography and photoplethyomography, which require contacting the sensor to the skin surface. Moreover, catheter and cuff-based methods for measuring blood pressure cause inconvenience and have limited applicability. Therefore, in this thesis, we propose a vision-based method for estimating the heart rate and blood pressure. This thesis proposes a 2-stage deep learning framework consisting of a dual remote photoplethysmography network (DRP-Net) and bounded blood pressure network (BBP-Net). In the first stage, DRP-Net infers remote photoplethysmography (rPPG) signals for the acral and facial regions, and these phase-shifted rPPG signals are utilized to estimate the heart rate. In the second stage, BBP-Net integrates temporal features and analyzes phase discrepancy between the acral and facial rPPG signals to estimate SBP and DBP values. To improve the accuracy of estimating the heart rate, we employed a data augmentation method based on a frame interpolation model. Moreover, we designed BBP-Net to infer blood pressure within a predefined range by incorporating a scaled sigmoid function. Our method resulted in estimating the heart rate with the mean absolute error (MAE) of 1.78 BPM, reducing the MAE by 34.31 % compared to the recent method, on the MMSE-HR dataset. The MAE for estimating the systolic blood pressure (SBP) and diastolic blood pressure (DBP) were 10.19 mmHg and 7.09 mmHg. On the V4V dataset, the MAE for the heart rate, SBP, and DBP were 3.83 BPM, 13.64 mmHg, and 9.4 mmHg, respectively.

Coronary microvascular dysfunction (CMD), characterized by impaired regulation of blood flow in the coronary microcirculation, plays a key role in the pathogenesis of ischemic heart disease and is increasingly recognized as a contributor to adverse cardiovascular outcomes. Despite its clinical importance, CMD remains underdiagnosed due to the reliance on invasive procedures such as pressure wire-based measurements of the index of microcirculatory resistance (IMR) and coronary flow reserve (CFR), which are costly, time-consuming, and carry procedural risks. To date, no study has sought to quantify CMD indices using data-driven approaches while leveraging the rich information contained in coronary angiograms. To address these limitations, this study proposes a novel data-driven framework for inference of CMD indices based on coronary angiography. A physiologically validated multi-physics model was used to generate synthetic datasets for data-driven model training, consisting of CMD indices and computational angiograms with corresponding contrast intensity profiles (CIPs). Two neural network architectures were developed: a single-input-channel encoder-MLP model for IMR prediction and a dual-input-channel encoder-MLP model for CFR prediction, both incorporating epistemic uncertainty estimation to quantify prediction confidence. Results demonstrate that the data-driven models achieve high predictive accuracy when evaluated against physics-based synthetic datasets, and that the uncertainty estimates are positively correlated with prediction errors. Furthermore, the utility of CIPs as informative surrogates for coronary physiology is demonstrated, underscoring the potential of the proposed framework to enable accurate, real-time, image-based CMD assessment using routine angiography without the need for more invasive approaches.

Precise segmentation of the left ventricle (LV) within cardiac MRI images is a prerequisite for the quantitative measurement of heart function. However, this task is challenging due to the limited availability of labeled data and motion artifacts from cardiac imaging. In this work, we present an iterative segmentation algorithm for LV delineation. By coupling deep learning with a novel dynamic-based labeling scheme, we present a new methodology where a policy model is learned to guide an agent to travel over the the image, tracing out a boundary of the ROI -- using the magnitude difference of the Poincaré map as a stopping criterion. Our method is evaluated on two datasets, namely the Sunnybrook Cardiac Dataset (SCD) and data from the STACOM 2011 LV segmentation challenge. Our method outperforms the previous research over many metrics. In order to demonstrate the transferability of our method we present encouraging results over the STACOM 2011 data, when using a model trained on the SCD dataset.

Anomaly detection in 12-lead electrocardiograms (ECGs) is critical for identifying deviations associated with cardiovascular disease. This work presents a comparative analysis of three autoencoder-based architectures: convolutional autoencoder (CAE), variational autoencoder with bidirectional long short-term memory (VAE-BiLSTM), and VAE-BiLSTM with multi-head attention (VAE-BiLSTM-MHA), for unsupervised anomaly detection in ECGs. To the best of our knowledge, this study reports the first application of a VAE-BiLSTM-MHA architecture to ECG anomaly detection. All models are trained on normal ECG samples to reconstruct non-anomalous cardiac morphology and detect deviations indicative of disease. Using a unified preprocessing and evaluation pipeline on the public China Physiological Signal Challenge (CPSC) dataset, the attention-augmented VAE achieves the best performance, with an AUPRC of 0.81 and a recall of 0.85 on the held-out test set, outperforming the other architectures. To support clinical triage, this model is further integrated into an interactive dashboard that visualizes anomaly localization. In addition, a performance comparison with baseline models from the literature is provided.

Understanding the irregular electrical activity of atrial fibrillation (AFib) has been a key challenge in electrocardiography. For serious cases of AFib, catheter ablations are performed to collect intracardiac electrograms (EGMs). EGMs offer intricately detailed and localized electrical activity of the heart and are an ideal modality for interpretable cardiac studies. Recent advancements in artificial intelligence (AI) has allowed some works to utilize deep learning frameworks to interpret EGMs during AFib. Additionally, language models (LMs) have shown exceptional performance in being able to generalize to unseen domains, especially in healthcare. In this study, we are the first to leverage pretrained LMs for finetuning of EGM interpolation and AFib classification via masked language modeling. We formulate the EGM as a textual sequence and present competitive performances on AFib classification compared against other representations. Lastly, we provide a comprehensive interpretability study to provide a multi-perspective intuition of the model's behavior, which could greatly benefit the clinical use.

The chest X-ray is one of the most commonly accessible radiological examinations for screening and diagnosis of many lung diseases. A tremendous number of X-ray imaging studies accompanied by radiological reports are accumulated and stored in many modern hospitals' Picture Archiving and Communication Systems (PACS). On the other side, it is still an open question how this type of hospital-size knowledge database containing invaluable imaging informatics (i.e., loosely labeled) can be used to facilitate the data-hungry deep learning paradigms in building truly large-scale high precision computer-aided diagnosis (CAD) systems. In this paper, we present a new chest X-ray database, namely "ChestX-ray8", which comprises 108,948 frontal-view X-ray images of 32,717 unique patients with the text-mined eight disease image labels (where each image can have multi-labels), from the associated radiological reports using natural language processing. Importantly, we demonstrate that these commonly occurring thoracic diseases can be detected and even spatially-located via a unified weakly-supervised multi-label image classification and disease localization framework, which is validated using our proposed dataset. Although the initial quantitative results are promising as reported, deep convolutional neural network based "reading chest X-rays" (i.e., recognizing and locating the common disease patterns trained with only image-level labels) remains a strenuous task for fully-automated high precision CAD systems. Data download link: https://nihcc.app.box.com/v/ChestXray-NIHCC

Accurate diagnostic coding of medical notes is crucial for enhancing patient care, medical research, and error-free billing in healthcare organizations. Manual coding is a time-consuming task for providers, and diagnostic codes often exhibit low sensitivity and specificity, whereas the free text in medical notes can be a more precise description of a patients status. Thus, accurate automated diagnostic coding of medical notes has become critical for a learning healthcare system. Recent developments in long-document transformer architectures have enabled attention-based deep-learning models to adjudicate medical notes. In addition, contrastive loss functions have been used to jointly pre-train large language and image models with noisy labels. To further improve the automated adjudication of medical notes, we developed an approach based on i) models for ICD-10 diagnostic code sequences using a large real-world data set, ii) large language models for medical notes, and iii) contrastive pre-training to build an integrated model of both ICD-10 diagnostic codes and corresponding medical text. We demonstrate that a contrastive approach for pre-training improves performance over prior state-of-the-art models for the MIMIC-III-50, MIMIC-III-rare50, and MIMIC-III-full diagnostic coding tasks.

Multimodal cardiovascular magnetic resonance (CMR) imaging provides comprehensive and non-invasive insights into cardiovascular disease (CVD) diagnosis and underlying mechanisms. Despite decades of advancements, its widespread clinical adoption remains constrained by prolonged scan times and heterogeneity across medical environments. This underscores the urgent need for a generalist reconstruction foundation model for ultra-fast CMR imaging, one capable of adapting across diverse imaging scenarios and serving as the essential substrate for all downstream analyses. To enable this goal, we curate MMCMR-427K, the largest and most comprehensive multimodal CMR k-space database to date, comprising 427,465 multi-coil k-space data paired with structured metadata across 13 international centers, 12 CMR modalities, 15 scanners, and 17 CVD categories in populations across three continents. Building on this unprecedented resource, we introduce CardioMM, a generalist reconstruction foundation model capable of dynamically adapting to heterogeneous fast CMR imaging scenarios. CardioMM unifies semantic contextual understanding with physics-informed data consistency to deliver robust reconstructions across varied scanners, protocols, and patient presentations. Comprehensive evaluations demonstrate that CardioMM achieves state-of-the-art performance in the internal centers and exhibits strong zero-shot generalization to unseen external settings. Even at imaging acceleration up to 24x, CardioMM reliably preserves key cardiac phenotypes, quantitative myocardial biomarkers, and diagnostic image quality, enabling a substantial increase in CMR examination throughput without compromising clinical integrity. Together, our open-access MMCMR-427K database and CardioMM framework establish a scalable pathway toward high-throughput, high-quality, and clinically accessible cardiovascular imaging.

Current medical language models, adapted from large language models (LLMs), typically predict ICD code-based diagnosis from electronic health records (EHRs) because these labels are readily available. However, ICD codes do not capture the nuanced, context-rich reasoning clinicians use for diagnosis. Clinicians synthesize diverse patient data and reference clinical practice guidelines (CPGs) to make evidence-based decisions. This misalignment limits the clinical utility of existing models. We introduce GARMLE-G, a Generation-Augmented Retrieval framework that grounds medical language model outputs in authoritative CPGs. Unlike conventional Retrieval-Augmented Generation based approaches, GARMLE-G enables hallucination-free outputs by directly retrieving authoritative guideline content without relying on model-generated text. It (1) integrates LLM predictions with EHR data to create semantically rich queries, (2) retrieves relevant CPG knowledge snippets via embedding similarity, and (3) fuses guideline content with model output to generate clinically aligned recommendations. A prototype system for hypertension diagnosis was developed and evaluated on multiple metrics, demonstrating superior retrieval precision, semantic relevance, and clinical guideline adherence compared to RAG-based baselines, while maintaining a lightweight architecture suitable for localized healthcare deployment. This work provides a scalable, low-cost, and hallucination-free method for grounding medical language models in evidence-based clinical practice, with strong potential for broader clinical deployment.

The electrocardiogram (ECG) is a cost-effective, highly accessible and widely employed diagnostic tool. With the advent of Foundation Models (FMs), the field of AI-assisted ECG interpretation has begun to evolve, as they enable model reuse across different tasks by relying on embeddings. However, to responsibly employ FMs, it is crucial to rigorously assess to which extent the embeddings they produce are generalizable, particularly in error-sensitive domains such as healthcare. Although prior works have already addressed the problem of benchmarking ECG-expert FMs, they focus predominantly on the evaluation of downstream performance. To fill this gap, this study aims to find an in-depth, comprehensive benchmarking framework for FMs, with a specific focus on ECG-expert ones. To this aim, we introduce a benchmark methodology that complements performance-based evaluation with representation-level analysis, leveraging SHAP and UMAP techniques. Furthermore, we rely on the methodology for carrying out an extensive evaluation of several ECG-expert FMs pretrained via state-of-the-art techniques over different cross-continental datasets and data availability settings; this includes ones featuring data scarcity, a fairly common situation in real-world medical scenarios. Experimental results show that our benchmarking protocol provides a rich insight of ECG-expert FMs' embedded patterns, enabling a deeper understanding of their representational structure and generalizability.

The label scarcity problem is the main challenge that hinders the wide application of deep learning systems in automatic cardiovascular diseases (CVDs) detection using electrocardiography (ECG). Tuning pre-trained models alleviates this problem by transferring knowledge learned from large datasets to downstream small datasets. However, bottlenecks in computational efficiency and detection performance limit its clinical applications. It is difficult to improve the detection performance without significantly sacrificing the computational efficiency during model training. Here, we propose a computation-efficient semi-supervised learning paradigm (CE-SSL) for robust and computation-efficient CVDs detection using ECG. It enables a robust adaptation of pre-trained models on downstream datasets with limited supervision and high computational efficiency. First, a random-deactivation technique is developed to achieve robust and fast low-rank adaptation of pre-trained weights. Subsequently, we propose a one-shot rank allocation module to determine the optimal ranks for the update matrices of the pre-trained weights. Finally, a lightweight semi-supervised learning pipeline is introduced to enhance model performance by leveraging labeled and unlabeled data with high computational efficiency. Extensive experiments on four downstream datasets demonstrate that CE-SSL not only outperforms the state-of-the-art methods in multi-label CVDs detection but also consumes fewer GPU footprints, training time, and parameter storage space. As such, this paradigm provides an effective solution for achieving high computational efficiency and robust detection performance in the clinical applications of pre-trained models under limited supervision. Code and Supplementary Materials are available at https://github.com/KAZABANA/CE-SSL

Recently, Computer-Aided Diagnosis (CAD) systems have emerged as indispensable tools in clinical diagnostic workflows, significantly alleviating the burden on radiologists. Nevertheless, despite their integration into clinical settings, CAD systems encounter limitations. Specifically, while CAD systems can achieve high performance in the detection of lung nodules, they face challenges in accurately predicting multiple cancer types. This limitation can be attributed to the scarcity of publicly available datasets annotated with expert-level cancer type information. This research aims to bridge this gap by providing publicly accessible datasets and reliable tools for medical diagnosis, facilitating a finer categorization of different types of lung diseases so as to offer precise treatment recommendations. To achieve this objective, we curated a diverse dataset of lung Computed Tomography (CT) images, comprising 330 annotated nodules (nodules are labeled as bounding boxes) from 95 distinct patients. The quality of the dataset was evaluated using a variety of classical classification and detection models, and these promising results demonstrate that the dataset has a feasible application and further facilitate intelligent auxiliary diagnosis.

Question answering (QA) in the field of healthcare has received much attention due to significant advancements in natural language processing. However, existing healthcare QA datasets primarily focus on medical images, clinical notes, or structured electronic health record tables. This leaves the vast potential of combining electrocardiogram (ECG) data with these systems largely untapped. To address this gap, we present ECG-QA, the first QA dataset specifically designed for ECG analysis. The dataset comprises a total of 70 question templates that cover a wide range of clinically relevant ECG topics, each validated by an ECG expert to ensure their clinical utility. As a result, our dataset includes diverse ECG interpretation questions, including those that require a comparative analysis of two different ECGs. In addition, we have conducted numerous experiments to provide valuable insights for future research directions. We believe that ECG-QA will serve as a valuable resource for the development of intelligent QA systems capable of assisting clinicians in ECG interpretations. Dataset URL: https://github.com/Jwoo5/ecg-qa

The SYNTAX score has become a widely used measure of coronary disease severity , crucial in selecting the optimal mode of revascularization. This paper introduces a new medical regression and classification problem - automatically estimating SYNTAX score from coronary angiography. Our study presents a comprehensive dataset of 1,844 patients, featuring a balanced distribution of individuals with zero and non-zero scores. This dataset includes a first-of-its-kind, complete coronary angiography samples captured through a multi-view X-ray video, allowing one to observe coronary arteries from multiple perspectives. Furthermore, we present a novel, fully automatic end-to-end method for estimating the SYNTAX. For such a difficult task, we have achieved a solid coefficient of determination R2 of 0.51 in score predictions.

This study aims to explore the implementation of Natural Language Processing (NLP) and machine learning (ML) techniques to automate the coding of medical letters with visualised explainability and light-weighted local computer settings. Currently in clinical settings, coding is a manual process that involves assigning codes to each condition, procedure, and medication in a patient's paperwork (e.g., 56265001 heart disease using SNOMED CT code). There are preliminary research on automatic coding in this field using state-of-the-art ML models; however, due to the complexity and size of the models, the real-world deployment is not achieved. To further facilitate the possibility of automatic coding practice, we explore some solutions in a local computer setting; in addition, we explore the function of explainability for transparency of AI models. We used the publicly available MIMIC-III database and the HAN/HLAN network models for ICD code prediction purposes. We also experimented with the mapping between ICD and SNOMED CT knowledge bases. In our experiments, the models provided useful information for 97.98\% of codes. The result of this investigation can shed some light on implementing automatic clinical coding in practice, such as in hospital settings, on the local computers used by clinicians , project page https://github.com/Glenj01/Medical-Coding.

Background. Fully automatic analysis of myocardial perfusion MRI datasets enables rapid and objective reporting of stress/rest studies in patients with suspected ischemic heart disease. Developing deep learning techniques that can analyze multi-center datasets despite limited training data and variations in software and hardware is an ongoing challenge. Methods. Datasets from 3 medical centers acquired at 3T (n = 150 subjects) were included: an internal dataset (inD; n = 95) and two external datasets (exDs; n = 55) used for evaluating the robustness of the trained deep neural network (DNN) models against differences in pulse sequence (exD-1) and scanner vendor (exD-2). A subset of inD (n = 85) was used for training/validation of a pool of DNNs for segmentation, all using the same spatiotemporal U-Net architecture and hyperparameters but with different parameter initializations. We employed a space-time sliding-patch analysis approach that automatically yields a pixel-wise "uncertainty map" as a byproduct of the segmentation process. In our approach, a given test case is segmented by all members of the DNN pool and the resulting uncertainty maps are leveraged to automatically select the "best" one among the pool of solutions. Results. The proposed DAUGS analysis approach performed similarly to the established approach on the internal dataset (p = n.s.) whereas it significantly outperformed on the external datasets (p < 0.005 for exD-1 and exD-2). Moreover, the number of image series with "failed" segmentation was significantly lower for the proposed vs. the established approach (4.3% vs. 17.1%, p < 0.0005). Conclusions. The proposed DAUGS analysis approach has the potential to improve the robustness of deep learning methods for segmentation of multi-center stress perfusion datasets with variations in the choice of pulse sequence, site location or scanner vendor.

Detecting stenosis in coronary angiography is vital for diagnosing and managing cardiovascular diseases. This study evaluates the performance of state-of-the-art object detection models on the ARCADE dataset using the MMDetection framework. The models are assessed using COCO evaluation metrics, including Intersection over Union (IoU), Average Precision (AP), and Average Recall (AR). Results indicate variations in detection accuracy across different models, attributed to differences in algorithmic design, transformer-based vs. convolutional architectures. Additionally, several challenges were encountered during implementation, such as compatibility issues between PyTorch, CUDA, and MMDetection, as well as dataset inconsistencies in ARCADE. The findings provide insights into model selection for stenosis detection and highlight areas for further improvement in deep learning-based coronary artery disease diagnosis.

Chagas disease screening via ECGs is limited by scarce and noisy labels in existing datasets. We propose a biomarker-based pretraining approach, where an ECG feature extractor is first trained to predict percentile-binned blood biomarkers from the MIMIC-IV-ECG dataset. The pretrained model is then fine-tuned on Brazilian datasets for Chagas detection. Our 5-model ensemble, developed by the Ahus AIM team, achieved a challenge score of 0.269 on the hidden test set, ranking 5th in Detection of Chagas Disease from the ECG: The George B. Moody PhysioNet Challenge 2025. Source code and the model are shared on GitHub: github.com/Ahus-AIM/physionet-challenge-2025

Accurate prediction of major adverse cardiovascular events recurrence risk in acute myocardial infarction patients based on postoperative cardiac MRI and associated clinical notes is crucial for precision treatment and personalized intervention. Existing methods primarily focus on risk stratification capability while overlooking the need for intermediate robust reasoning and model interpretability in clinical practice. Moreover, end-to-end risk prediction using LLM/VLM faces significant challenges due to data limitations and modeling complexity. To bridge this gap, we propose CardioCoT, a novel two-stage hierarchical reasoning-enhanced survival analysis framework designed to enhance both model interpretability and predictive performance. In the first stage, we employ an evidence-augmented self-refinement mechanism to guide LLM/VLMs in generating robust hierarchical reasoning trajectories based on associated radiological findings. In the second stage, we integrate the reasoning trajectories with imaging data for risk model training and prediction. CardioCoT demonstrates superior performance in MACE recurrence risk prediction while providing interpretable reasoning processes, offering valuable insights for clinical decision-making.

Automated diagnosis prediction from medical images is a valuable resource to support clinical decision-making. However, such systems usually need to be trained on large amounts of annotated data, which often is scarce in the medical domain. Zero-shot methods address this challenge by allowing a flexible adaption to new settings with different clinical findings without relying on labeled data. Further, to integrate automated diagnosis in the clinical workflow, methods should be transparent and explainable, increasing medical professionals' trust and facilitating correctness verification. In this work, we introduce Xplainer, a novel framework for explainable zero-shot diagnosis in the clinical setting. Xplainer adapts the classification-by-description approach of contrastive vision-language models to the multi-label medical diagnosis task. Specifically, instead of directly predicting a diagnosis, we prompt the model to classify the existence of descriptive observations, which a radiologist would look for on an X-Ray scan, and use the descriptor probabilities to estimate the likelihood of a diagnosis. Our model is explainable by design, as the final diagnosis prediction is directly based on the prediction of the underlying descriptors. We evaluate Xplainer on two chest X-ray datasets, CheXpert and ChestX-ray14, and demonstrate its effectiveness in improving the performance and explainability of zero-shot diagnosis. Our results suggest that Xplainer provides a more detailed understanding of the decision-making process and can be a valuable tool for clinical diagnosis.

Medical imaging plays a pivotal role in modern healthcare, with computed tomography pulmonary angiography (CTPA) being a critical tool for diagnosing pulmonary embolism and other thoracic conditions. However, the complexity of interpreting CTPA scans and generating accurate radiology reports remains a significant challenge. This paper introduces Abn-BLIP (Abnormality-aligned Bootstrapping Language-Image Pretraining), an advanced diagnosis model designed to align abnormal findings to generate the accuracy and comprehensiveness of radiology reports. By leveraging learnable queries and cross-modal attention mechanisms, our model demonstrates superior performance in detecting abnormalities, reducing missed findings, and generating structured reports compared to existing methods. Our experiments show that Abn-BLIP outperforms state-of-the-art medical vision-language models and 3D report generation methods in both accuracy and clinical relevance. These results highlight the potential of integrating multimodal learning strategies for improving radiology reporting. The source code is available at https://github.com/zzs95/abn-blip.

Cardiotoxicity induced by the breast cancer treatments (i.e., chemotherapy, targeted therapy and radiation therapy) is a significant problem for breast cancer patients. The cardiotoxicity risk for breast cancer patients receiving different treatments remains unclear. We developed and evaluated risk predictive models for cardiotoxicity in breast cancer patients using EHR data. The AUC scores to predict the CHF, CAD, CM and MI are 0.846, 0.857, 0.858 and 0.804 respectively. After adjusting for baseline differences in cardiovascular health, patients who received chemotherapy or targeted therapy appeared to have higher risk of cardiotoxicity than patients who received radiation therapy. Due to differences in baseline cardiac health across the different breast cancer treatment groups, caution is recommended in interpreting the cardiotoxic effect of these treatments.

International Classification of Disease (ICD) coding procedure which refers to tagging medical notes with diagnosis codes has been shown to be effective and crucial to the billing system in medical sector. Currently, ICD codes are assigned to a clinical note manually which is likely to cause many errors. Moreover, training skilled coders also requires time and human resources. Therefore, automating the ICD code determination process is an important task. With the advancement of artificial intelligence theory and computational hardware, machine learning approach has emerged as a suitable solution to automate this process. In this project, we apply a transformer-based architecture to capture the interdependence among the tokens of a document and then use a code-wise attention mechanism to learn code-specific representations of the entire document. Finally, they are fed to separate dense layers for corresponding code prediction. Furthermore, to handle the imbalance in the code frequency of clinical datasets, we employ a label distribution aware margin (LDAM) loss function. The experimental results on the MIMIC-III dataset show that our proposed model outperforms other baselines by a significant margin. In particular, our best setting achieves a micro-AUC score of 0.923 compared to 0.868 of bidirectional recurrent neural networks. We also show that by using the code-wise attention mechanism, the model can provide more insights about its prediction, and thus it can support clinicians to make reliable decisions. Our code is available online (https://github.com/biplob1ly/TransICD)

Heart failure (HF) affects 11.8% of adults aged 65 and older, reducing quality of life and longevity. Preventing HF can reduce morbidity and mortality. We hypothesized that artificial intelligence (AI) applied to 24-hour single-lead electrocardiogram (ECG) data could predict the risk of HF within five years. To research this, the Technion-Leumit Holter ECG (TLHE) dataset, including 69,663 recordings from 47,729 patients, collected over 20 years was used. Our deep learning model, DeepHHF, trained on 24-hour ECG recordings, achieved an area under the receiver operating characteristic curve of 0.80 that outperformed a model using 30-second segments and a clinical score. High-risk individuals identified by DeepHHF had a two-fold chance of hospitalization or death incidents. Explainability analysis showed DeepHHF focused on arrhythmias and heart abnormalities, with key attention between 8 AM and 3 PM. This study highlights the feasibility of deep learning to model 24-hour continuous ECG data, capturing paroxysmal events and circadian variations essential for reliable risk prediction. Artificial intelligence applied to single-lead Holter ECG is non-invasive, inexpensive, and widely accessible, making it a promising tool for HF risk prediction.

The field of medical diagnosis has undergone a significant transformation with the advent of large language models (LLMs), yet the challenges of interpretability within these models remain largely unaddressed. This study introduces Chain-of-Diagnosis (CoD) to enhance the interpretability of LLM-based medical diagnostics. CoD transforms the diagnostic process into a diagnostic chain that mirrors a physician's thought process, providing a transparent reasoning pathway. Additionally, CoD outputs the disease confidence distribution to ensure transparency in decision-making. This interpretability makes model diagnostics controllable and aids in identifying critical symptoms for inquiry through the entropy reduction of confidences. With CoD, we developed DiagnosisGPT, capable of diagnosing 9604 diseases. Experimental results demonstrate that DiagnosisGPT outperforms other LLMs on diagnostic benchmarks. Moreover, DiagnosisGPT provides interpretability while ensuring controllability in diagnostic rigor.

While Multimodal Large Language Models (MLLMs) show promising performance in automated electrocardiogram interpretation, it remains unclear whether they genuinely perform actual step-by-step reasoning or just rely on superficial visual cues. To investigate this, we introduce ECG-Reasoning-Benchmark, a novel multi-turn evaluation framework comprising over 6,400 samples to systematically assess step-by-step reasoning across 17 core ECG diagnoses. Our comprehensive evaluation of state-of-the-art models reveals a critical failure in executing multi-step logical deduction. Although models possess the medical knowledge to retrieve clinical criteria for a diagnosis, they exhibit near-zero success rates (6% Completion) in maintaining a complete reasoning chain, primarily failing to ground the corresponding ECG findings to the actual visual evidence in the ECG signal. These results demonstrate that current MLLMs bypass actual visual interpretation, exposing a critical flaw in existing training paradigms and underscoring the necessity for robust, reasoning-centric medical AI. The code and data are available at https://github.com/Jwoo5/ecg-reasoning-benchmark.

Atrial fibrillation (AFib) is the prominent cardiac arrhythmia in the world. It affects mostly the elderly population, with potential consequences such as stroke and heart failure in the absence of necessary treatments as soon as possible. The importance of atrial scarring in the development and progression of AFib has gained recognition, positioning late gadolinium-enhanced magnetic resonance imaging (LGE-MRI) as a crucial technique for the non-invasive evaluation of atrial scar tissue. This review delves into the recent progress in segmenting atrial scars using LGE-MRIs, emphasizing the importance of precise scar measurement in the treatment and management of AFib. Initially, it provides a detailed examination of AFib. Subsequently, it explores the application of deep learning in this domain. The review culminates in a discussion of the latest research advancements in atrial scar segmentation using deep learning methods. By offering a thorough analysis of current technologies and their impact on AFib management strategies, this review highlights the integral role of deep learning in enhancing atrial scar segmentation and its implications for future therapeutic approaches.

In this paper, we present a framework for training large language models (LLMs) as diagnostic agents with reinforcement learning, enabling them to manage multi-turn diagnostic processes, adaptively select examinations, and commit to final diagnoses. Unlike instruction-tuned models trained on static case summaries, our method acquires diagnostic strategies through interactive exploration and outcome-based feedback. Our contributions are fourfold: (i) We present DiagGym, a diagnostics world model trained with electronic health records that emits examination outcomes conditioned on patient history and recommended examination, serving as a virtual clinical environment for realistic diagnosis training and evaluation; (ii) We train DiagAgent via end-to-end, multi-turn reinforcement learning to learn diagnostic policies that optimize both information yield and diagnostic accuracy; (iii) We introduce DiagBench, a diagnostic benchmark comprising 750 cases with physician-validated examination recommendations and 99 cases annotated with 973 physician-written rubrics on diagnosis process; (iv) we demonstrate superior performance across diverse diagnostic settings. DiagAgent significantly outperforms 10 state-of-the-art LLMs, including DeepSeek-v3 and GPT-4o, as well as two prompt-engineered agents. In single-turn settings, DiagAgent achieves 9.34% higher diagnostic accuracy and 44.03% improvement in examination recommendation hit ratio. In end-to-end settings, it delivers 15.12% increase in diagnostic accuracy and 23.09% boost in examination recommendation F1 score. In rubric-based evaluation, it surpasses the next-best model, Claude-sonnet-4, by 7.1% in weighted rubric score. These findings indicate that learning policies in interactive clinical environments confers dynamic and clinically meaningful diagnostic management abilities unattainable through passive training alone.

Listening to heart and lung sounds - auscultation - is one of the first and most fundamental steps in a clinical examination. Despite being fast and non-invasive, it demands years of experience to interpret subtle audio cues. Recent deep learning methods have made progress in automating cardiopulmonary sound analysis, yet most are restricted to simple classification and offer little clinical interpretability or decision support. We present StethoLM, the first audio-language model specialized for cardiopulmonary auscultation, capable of performing instruction-driven clinical tasks across the full spectrum of auscultation analysis. StethoLM integrates audio encoding with a medical language model backbone and is trained on StethoBench, a comprehensive benchmark comprising 77,027 instruction-response pairs synthesized from 16,125 labeled cardiopulmonary recordings spanning seven clinical task categories: binary classification, detection, reporting, reasoning, differential diagnosis, comparison, and location-based analysis. Through multi-stage training that combines supervised fine-tuning and direct preference optimization, StethoLM achieves substantial gains in performance and robustness on out-of-distribution data. Our work establishes a foundation for instruction-following AI systems in clinical auscultation.

Clinical diagnosis of the eye is performed over multifarious data modalities including scalar clinical labels, vectorized biomarkers, two-dimensional fundus images, and three-dimensional Optical Coherence Tomography (OCT) scans. Clinical practitioners use all available data modalities for diagnosing and treating eye diseases like Diabetic Retinopathy (DR) or Diabetic Macular Edema (DME). Enabling usage of machine learning algorithms within the ophthalmic medical domain requires research into the relationships and interactions between all relevant data over a treatment period. Existing datasets are limited in that they neither provide data nor consider the explicit relationship modeling between the data modalities. In this paper, we introduce the Ophthalmic Labels for Investigating Visual Eye Semantics (OLIVES) dataset that addresses the above limitation. This is the first OCT and near-IR fundus dataset that includes clinical labels, biomarker labels, disease labels, and time-series patient treatment information from associated clinical trials. The dataset consists of 1268 near-IR fundus images each with at least 49 OCT scans, and 16 biomarkers, along with 4 clinical labels and a disease diagnosis of DR or DME. In total, there are 96 eyes' data averaged over a period of at least two years with each eye treated for an average of 66 weeks and 7 injections. We benchmark the utility of OLIVES dataset for ophthalmic data as well as provide benchmarks and concrete research directions for core and emerging machine learning paradigms within medical image analysis.

Deep learning-based electrocardiogram (ECG) classification has shown impressive performance but clinical adoption has been slowed by the lack of transparent and faithful explanations. Post hoc methods such as saliency maps may fail to reflect a model's true decision process. Prototype-based reasoning offers a more transparent alternative by grounding decisions in similarity to learned representations of real ECG segments, enabling faithful, case-based explanations. We introduce ProtoECGNet, a prototype-based deep learning model for interpretable, multi-label ECG classification. ProtoECGNet employs a structured, multi-branch architecture that reflects clinical interpretation workflows: it integrates a 1D CNN with global prototypes for rhythm classification, a 2D CNN with time-localized prototypes for morphology-based reasoning, and a 2D CNN with global prototypes for diffuse abnormalities. Each branch is trained with a prototype loss designed for multi-label learning, combining clustering, separation, diversity, and a novel contrastive loss that encourages appropriate separation between prototypes of unrelated classes while allowing clustering for frequently co-occurring diagnoses. We evaluate ProtoECGNet on all 71 diagnostic labels from the PTB-XL dataset, demonstrating competitive performance relative to state-of-the-art black-box models while providing structured, case-based explanations. To assess prototype quality, we conduct a structured clinician review of the final model's projected prototypes, finding that they are rated as representative and clear. ProtoECGNet shows that prototype learning can be effectively scaled to complex, multi-label time-series classification, offering a practical path toward transparent and trustworthy deep learning models for clinical decision support.

As the field of artificial intelligence progresses, assistive technologies are becoming more widely used across all industries. The healthcare industry is no different, with numerous studies being done to develop assistive tools for healthcare professionals. Automatic diagnostic systems are one such beneficial tool that can assist with a variety of tasks, including collecting patient information, analyzing test results, and diagnosing patients. However, the idea of developing systems that can provide a differential diagnosis has been largely overlooked in most of these research studies. In this study, we propose a transformer-based approach for providing differential diagnoses based on a patient's age, sex, medical history, and symptoms. We use the DDXPlus dataset, which provides differential diagnosis information for patients based on 49 disease types. Firstly, we propose a method to process the tabular patient data from the dataset and engineer them into patient reports to make them suitable for our research. In addition, we introduce two data modification modules to diversify the training data and consequently improve the robustness of the models. We approach the task as a multi-label classification problem and conduct extensive experiments using four transformer models. All the models displayed promising results by achieving over 97% F1 score on the held-out test set. Moreover, we design additional behavioral tests to get a broader understanding of the models. In particular, for one of our test cases, we prepared a custom test set of 100 samples with the assistance of a doctor. The results on the custom set showed that our proposed data modification modules improved the model's generalization capabilities. We hope our findings will provide future researchers with valuable insights and inspire them to develop reliable systems for automatic differential diagnosis.

The emergence of groundbreaking large language models capable of performing complex reasoning tasks holds significant promise for addressing various scientific challenges, including those arising in complex clinical scenarios. To enable their safe and effective deployment in real-world healthcare settings, it is urgently necessary to benchmark the diagnostic capabilities of current models systematically. Given the limitations of existing medical benchmarks in evaluating advanced diagnostic reasoning, we present DiagnosisArena, a comprehensive and challenging benchmark designed to rigorously assess professional-level diagnostic competence. DiagnosisArena consists of 1,113 pairs of segmented patient cases and corresponding diagnoses, spanning 28 medical specialties, deriving from clinical case reports published in 10 top-tier medical journals. The benchmark is developed through a meticulous construction pipeline, involving multiple rounds of screening and review by both AI systems and human experts, with thorough checks conducted to prevent data leakage. Our study reveals that even the most advanced reasoning models, o3-mini, o1, and DeepSeek-R1, achieve only 45.82%, 31.09%, and 17.79% accuracy, respectively. This finding highlights a significant generalization bottleneck in current large language models when faced with clinical diagnostic reasoning challenges. Through DiagnosisArena, we aim to drive further advancements in AIs diagnostic reasoning capabilities, enabling more effective solutions for real-world clinical diagnostic challenges. We provide the benchmark and evaluation tools for further research and development https://github.com/SPIRAL-MED/DiagnosisArena.

To investigate whether the pleurae, airways and vessels surrounding a nodule on non-contrast computed tomography (CT) can discriminate benign and malignant pulmonary nodules. The LIDC-IDRI dataset, one of the largest publicly available CT database, was exploited for study. A total of 1556 nodules from 694 patients were involved in statistical analysis, where nodules with average scorings <3 and >3 were respectively denoted as benign and malignant. Besides, 339 nodules from 113 patients with diagnosis ground-truth were independently evaluated. Computer algorithms were developed to segment pulmonary structures and quantify the distances to pleural surface, airways and vessels, as well as the counting number and normalized volume of airways and vessels near a nodule. Odds ratio (OR) and Chi-square (\chi^2) testing were performed to demonstrate the correlation between features of surrounding structures and nodule malignancy. A non-parametric receiver operating characteristic (ROC) analysis was conducted in logistic regression to evaluate discrimination ability of each structure. For benign and malignant groups, the average distances from nodules to pleural surface, airways and vessels are respectively (6.56, 5.19), (37.08, 26.43) and (1.42, 1.07) mm. The correlation between nodules and the counting number of airways and vessels that contact or project towards nodules are respectively (OR=22.96, \chi^2=105.04) and (OR=7.06, \chi^2=290.11). The correlation between nodules and the volume of airways and vessels are (OR=9.19, \chi^2=159.02) and (OR=2.29, \chi^2=55.89). The areas-under-curves (AUCs) for pleurae, airways and vessels are respectively 0.5202, 0.6943 and 0.6529. Our results show that malignant nodules are often surrounded by more pulmonary structures compared with benign ones, suggesting that features of these structures could be viewed as lung cancer biomarkers.

An accurate differential diagnosis (DDx) is a cornerstone of medical care, often reached through an iterative process of interpretation that combines clinical history, physical examination, investigations and procedures. Interactive interfaces powered by Large Language Models (LLMs) present new opportunities to both assist and automate aspects of this process. In this study, we introduce an LLM optimized for diagnostic reasoning, and evaluate its ability to generate a DDx alone or as an aid to clinicians. 20 clinicians evaluated 302 challenging, real-world medical cases sourced from the New England Journal of Medicine (NEJM) case reports. Each case report was read by two clinicians, who were randomized to one of two assistive conditions: either assistance from search engines and standard medical resources, or LLM assistance in addition to these tools. All clinicians provided a baseline, unassisted DDx prior to using the respective assistive tools. Our LLM for DDx exhibited standalone performance that exceeded that of unassisted clinicians (top-10 accuracy 59.1% vs 33.6%, [p = 0.04]). Comparing the two assisted study arms, the DDx quality score was higher for clinicians assisted by our LLM (top-10 accuracy 51.7%) compared to clinicians without its assistance (36.1%) (McNemar's Test: 45.7, p < 0.01) and clinicians with search (44.4%) (4.75, p = 0.03). Further, clinicians assisted by our LLM arrived at more comprehensive differential lists than those without its assistance. Our study suggests that our LLM for DDx has potential to improve clinicians' diagnostic reasoning and accuracy in challenging cases, meriting further real-world evaluation for its ability to empower physicians and widen patients' access to specialist-level expertise.

There has been a rapidly growing interest in Automatic Symptom Detection (ASD) and Automatic Diagnosis (AD) systems in the machine learning research literature, aiming to assist doctors in telemedicine services. These systems are designed to interact with patients, collect evidence about their symptoms and relevant antecedents, and possibly make predictions about the underlying diseases. Doctors would review the interactions, including the evidence and the predictions, collect if necessary additional information from patients, before deciding on next steps. Despite recent progress in this area, an important piece of doctors' interactions with patients is missing in the design of these systems, namely the differential diagnosis. Its absence is largely due to the lack of datasets that include such information for models to train on. In this work, we present a large-scale synthetic dataset of roughly 1.3 million patients that includes a differential diagnosis, along with the ground truth pathology, symptoms and antecedents for each patient. Unlike existing datasets which only contain binary symptoms and antecedents, this dataset also contains categorical and multi-choice symptoms and antecedents useful for efficient data collection. Moreover, some symptoms are organized in a hierarchy, making it possible to design systems able to interact with patients in a logical way. As a proof-of-concept, we extend two existing AD and ASD systems to incorporate the differential diagnosis, and provide empirical evidence that using differentials as training signals is essential for the efficiency of such systems or for helping doctors better understand the reasoning of those systems.

With the increasing availability of structured and unstructured data and the swift progress of analytical techniques, Artificial Intelligence (AI) is bringing a revolution to the healthcare industry. With the increasingly indispensable role of AI in healthcare, there are growing concerns over the lack of transparency and explainability in addition to potential bias encountered by predictions of the model. This is where Explainable Artificial Intelligence (XAI) comes into the picture. XAI increases the trust placed in an AI system by medical practitioners as well as AI researchers, and thus, eventually, leads to an increasingly widespread deployment of AI in healthcare. In this paper, we present different interpretability techniques. The aim is to enlighten practitioners on the understandability and interpretability of explainable AI systems using a variety of techniques available which can be very advantageous in the health-care domain. Medical diagnosis model is responsible for human life and we need to be confident enough to treat a patient as instructed by a black-box model. Our paper contains examples based on the heart disease dataset and elucidates on how the explainability techniques should be preferred to create trustworthiness while using AI systems in healthcare.

Chest X-ray plays a central role in thoracic diagnosis, and its interpretation inherently requires multi-step, evidence-grounded reasoning. However, large vision-language models (LVLMs) often generate plausible responses that are not faithfully grounded in diagnostic evidence and provide limited visual evidence for verification, while also requiring costly retraining to support new diagnostic tasks, limiting their reliability and adaptability in clinical settings. To address these limitations, we present CXReasonAgent, a diagnostic agent that integrates a large language model (LLM) with clinically grounded diagnostic tools to perform evidence-grounded diagnostic reasoning using image-derived diagnostic and visual evidence. To evaluate these capabilities, we introduce CXReasonDial, a multi-turn dialogue benchmark with 1,946 dialogues across 12 diagnostic tasks, and show that CXReasonAgent produces faithfully grounded responses, enabling more reliable and verifiable diagnostic reasoning than LVLMs. These findings highlight the importance of integrating clinically grounded diagnostic tools, particularly in safety-critical clinical settings.

Heart failure is a leading cause of global mortality, necessitating improved diagnostic strategies. Classical machine learning models struggle with challenges such as high-dimensional data, class imbalances, poor feature representations, and a lack of interpretability. While quantum machine learning holds promise, current hybrid models have not fully exploited quantum advantages. In this paper, we propose the Kolmogorov-Arnold Classical-Quantum Dual-Channel Neural Network (KACQ-DCNN), a novel hybrid architecture that replaces traditional multilayer perceptrons with Kolmogorov-Arnold Networks (KANs), enabling learnable univariate activation functions. Our KACQ-DCNN 4-qubit, 1-layer model outperforms 37 benchmark models, including 16 classical and 12 quantum neural networks, achieving an accuracy of 92.03%, with macro-average precision, recall, and F1 scores of 92.00%. It also achieved a ROC-AUC of 94.77%, surpassing other models by significant margins, as validated by paired t-tests with a significance threshold of 0.0056 (after Bonferroni correction). Ablation studies highlight the synergistic effect of classical-quantum integration, improving performance by about 2% over MLP variants. Additionally, LIME and SHAP explainability techniques enhance feature interpretability, while conformal prediction provides robust uncertainty quantification. Our results demonstrate that KACQ-DCNN improves cardiovascular diagnostics by combining high accuracy with interpretability and uncertainty quantification.

Codification of free-text clinical narratives have long been recognised to be beneficial for secondary uses such as funding, insurance claim processing and research. The current scenario of assigning codes is a manual process which is very expensive, time-consuming and error prone. In recent years, many researchers have studied the use of Natural Language Processing (NLP), related Machine Learning (ML) and Deep Learning (DL) methods and techniques to resolve the problem of manual coding of clinical narratives and to assist human coders to assign clinical codes more accurately and efficiently. This systematic literature review provides a comprehensive overview of automated clinical coding systems that utilises appropriate NLP, ML and DL methods and techniques to assign ICD codes to discharge summaries. We have followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses(PRISMA) guidelines and conducted a comprehensive search of publications from January, 2010 to December 2020 in four academic databases- PubMed, ScienceDirect, Association for Computing Machinery(ACM) Digital Library, and the Association for Computational Linguistics(ACL) Anthology. We reviewed 7,556 publications; 38 met the inclusion criteria. This review identified: datasets having discharge summaries; NLP techniques along with some other data extraction processes, different feature extraction and embedding techniques. To measure the performance of classification methods, different evaluation metrics are used. Lastly, future research directions are provided to scholars who are interested in automated ICD code assignment. Efforts are still required to improve ICD code prediction accuracy, availability of large-scale de-identified clinical corpora with the latest version of the classification system. This can be a platform to guide and share knowledge with the less experienced coders and researchers.

Clinical diagnosis prediction models, when provided with a patient's medical history, aim to detect potential diseases early, facilitating timely intervention and improving prognostic outcomes. However, the inherent scarcity of patient data and large disease candidate space often pose challenges in developing satisfactory models for this intricate task. The exploration of leveraging Large Language Models (LLMs) for encapsulating clinical decision processes has been limited. We introduce MERA, a clinical diagnosis prediction model that bridges pertaining natural language knowledge with medical practice. We apply hierarchical contrastive learning on a disease candidate ranking list to alleviate the large decision space issue. With concept memorization through fine-tuning, we bridge the natural language clinical knowledge with medical codes. Experimental results on MIMIC-III and IV datasets show that MERA achieves the state-of-the-art diagnosis prediction performance and dramatically elevates the diagnosis prediction capabilities of generative LMs.

Biomedical text embeddings have primarily been developed using research literature from PubMed, yet clinical cardiology practice relies heavily on procedural knowledge and specialized terminology found in comprehensive textbooks rather than research abstracts. This research practice gap limits the effectiveness of existing embedding models for clinical applications incardiology. This study trained CardioEmbed, a domain-specialized embedding model based on Qwen3-Embedding-8B, using contrastive learning on a curated corpus of seven comprehensive cardiology textbooks totaling approximately 150,000 sentences after deduplication. The model employs InfoNCE loss with in-batch negatives and achieves 99.60% retrieval accuracy on cardiac-specific semantic retrieval tasks, a +15.94 percentage point improvement over MedTE, the current state-of-the-art medical embedding model. On MTEB medical benchmarks, the model obtained BIOSSES 0.77 Spearman and SciFact 0.61 NDCG@10, indicating competitive performance on related biomedical domains. Domain-specialized training on comprehensive clinical textbooks yields near-perfect cardiology retrieval (99.60% Acc@1), improving over MedTE by +15.94 percentage points.

Echocardiography is crucial for cardiovascular disease detection but relies heavily on experienced sonographers. Echocardiography probe guidance systems, which provide real-time movement instructions for acquiring standard plane images, offer a promising solution for AI-assisted or fully autonomous scanning. However, developing effective machine learning models for this task remains challenging, as they must grasp heart anatomy and the intricate interplay between probe motion and visual signals. To address this, we present EchoWorld, a motion-aware world modeling framework for probe guidance that encodes anatomical knowledge and motion-induced visual dynamics, while effectively leveraging past visual-motion sequences to enhance guidance precision. EchoWorld employs a pre-training strategy inspired by world modeling principles, where the model predicts masked anatomical regions and simulates the visual outcomes of probe adjustments. Built upon this pre-trained model, we introduce a motion-aware attention mechanism in the fine-tuning stage that effectively integrates historical visual-motion data, enabling precise and adaptive probe guidance. Trained on more than one million ultrasound images from over 200 routine scans, EchoWorld effectively captures key echocardiographic knowledge, as validated by qualitative analysis. Moreover, our method significantly reduces guidance errors compared to existing visual backbones and guidance frameworks, excelling in both single-frame and sequential evaluation protocols. Code is available at https://github.com/LeapLabTHU/EchoWorld.

Following the global COVID-19 pandemic, the number of scientific papers studying the virus has grown massively, leading to increased interest in automated literate review. We present a clinical text mining system that improves on previous efforts in three ways. First, it can recognize over 100 different entity types including social determinants of health, anatomy, risk factors, and adverse events in addition to other commonly used clinical and biomedical entities. Second, the text processing pipeline includes assertion status detection, to distinguish between clinical facts that are present, absent, conditional, or about someone other than the patient. Third, the deep learning models used are more accurate than previously available, leveraging an integrated pipeline of state-of-the-art pretrained named entity recognition models, and improving on the previous best performing benchmarks for assertion status detection. We illustrate extracting trends and insights, e.g. most frequent disorders and symptoms, and most common vital signs and EKG findings, from the COVID-19 Open Research Dataset (CORD-19). The system is built using the Spark NLP library which natively supports scaling to use distributed clusters, leveraging GPUs, configurable and reusable NLP pipelines, healthcare specific embeddings, and the ability to train models to support new entity types or human languages with no code changes.

Automatic disease diagnosis has become increasingly valuable in clinical practice. The advent of large language models (LLMs) has catalyzed a paradigm shift in artificial intelligence, with growing evidence supporting the efficacy of LLMs in diagnostic tasks. Despite the increasing attention in this field, a holistic view is still lacking. Many critical aspects remain unclear, such as the diseases and clinical data to which LLMs have been applied, the LLM techniques employed, and the evaluation methods used. In this article, we perform a comprehensive review of LLM-based methods for disease diagnosis. Our review examines the existing literature across various dimensions, including disease types and associated clinical specialties, clinical data, LLM techniques, and evaluation methods. Additionally, we offer recommendations for applying and evaluating LLMs for diagnostic tasks. Furthermore, we assess the limitations of current research and discuss future directions. To our knowledge, this is the first comprehensive review for LLM-based disease diagnosis.

Photoplethysmogram (PPG) and electrocardiogram (ECG) are commonly recorded in intesive care unit (ICU) and operating room (OR). However, the high incidence of poor, incomplete, and inconsistent signal quality, can lead to false alarms or diagnostic inaccuracies. The methods explored so far suffer from limited generalizability, reliance on extensive labeled data, and poor cross-task transferability. To overcome these challenges, we introduce QualityFM, a novel multimodal foundation model for these physiological signals, designed to acquire a general-purpose understanding of signal quality. Our model is pre-trained on an large-scale dataset comprising over 21 million 30-second waveforms and 179,757 hours of data. Our approach involves a dual-track architecture that processes paired physiological signals of differing quality, leveraging a self-distillation strategy where an encoder for high-quality signals is used to guide the training of an encoder for low-quality signals. To efficiently handle long sequential signals and capture essential local quasi-periodic patterns, we integrate a windowed sparse attention mechanism within our Transformer-based model. Furthermore, a composite loss function, which combines direct distillation loss on encoder outputs with indirect reconstruction loss based on power and phase spectra, ensures the preservation of frequency-domain characteristics of the signals. We pre-train three models with varying parameter counts (9.6 M to 319 M) and demonstrate their efficacy and practical value through transfer learning on three distinct clinical tasks: false alarm of ventricular tachycardia detection, the identification of atrial fibrillation and the estimation of arterial blood pressure (ABP) from PPG and ECG signals.