Organizations: Department of Applied Computing, Michigan Technological University, Houghton, MI, USA · Department of Mathematical Sciences, Michigan Technological University, Houghton, MI, USA · Department of Radiation and Cellular Oncology, University of Chicago, Chicago, IL · Division of Cardiology, Cook County Health and Hospitals System, Chicago, IL, USA · Division of Cardiology, Rush Medical College, Chicago, IL, USA · Center for Biocomputing and Digital Health, Institute of Computing and Cybersystems, and Health Research Institute, Michigan Technological University, Houghton, MI, USA
Abstract
Cardiac amyloidosis (CA) is increasingly recognized but remains substantially underdiagnosed, because its clinical and imaging phenotype overlaps with more common cardiomyopathies. Definitive subtype assignment and management further require integration of multimodal evidence to distinguish transthyretin from light chain disease. Machine learning and deep learning have been applied across the diagnostic and management pathway. These applications span ECG, echocardiography, and health record-based case finding, as well as CMR and nuclear interpretation, including SPECT/CT biomarker quantification, prognostic modeling, and treatment response assessment. This narrative review synthesizes these studies by clinical tasks, namely screening, detection, quantification, prognosis, and treatment response monitoring, rather than by input modality. This task-based organization clarifies why apparently similar AI models require different cohorts, reference standards, evaluation metrics, and implementation thresholds. The evidence reveals a maturity gradient. Binary detection and AI assisted quantification on bone scintigraphy and SPECT/CT are closest to clinical translation. Detection is supported by large externally validated cohorts, and quantification by interpretable, outcome linked measurement of myocardial tracer burden. By contrast, subtype aware classification, prognostic risk stratification, and treatment response monitoring remain at an early stage. These tasks are limited by small cohorts, enriched retrospective designs, heterogeneous labels, incomplete external validation, and uncertain calibration in realistic prevalence settings. Across tasks, high discrimination alone is insufficient.
Aims: Cardiovascular magnetic resonance (CMR) imaging enables non-invasive assessment of myocardial structure, function, and pathology, but requires substantial experience in interpretation of CMR images that could be supported by artificial intelligence (AI)-based models. However, use of AI models for enhanced CMR reading is limited by labor-intensive data curation, suboptimal model performance, and unclear implementation pathways. Methods and results: We developed an automated data curation pipeline for CMR-based cardiovascular disease (CVD) diagnosis, integrating open-source locally-run large language models (LLMs) to extract diagnostic labels from narrative CMR reports and preprocessing multimodal imaging data, including cine and late-gadolinium-enhancement (LGE) CMR sequences. Three vision foundation models (DINO, VST, UMedPT) were fine-tuned across these modalities in a two-stage approach. The dataset comprised hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), ischemic cardiomyopathy (ICM), cardiac amyloidosis (CA), and normal controls (NOR). A total of 988 curated cases were randomly divided into 742 for training and 246 for validation. Fine-tuned AI-models achieved high discriminative diagnostic performance on an independent test set comprising 1067 patients , with individual AUC-ROC values of up to 0.937 for the correct diagnosis of HCM and 0.945 for cardiac amyloidosis. Ensemble strategies combining multiple models and modalities further improved AI-based diagnostic accuracy and robustness, achieving the highest overall diagnostic performance for HCM (AUC=0.959, CI [0.936-0.978]), CA (AUC=0.966, CI [0.939-0.986]), NOR (AUC=0.872, CI [0.852-0.894]), DCM (AUC=0.848, CI [0.808-0.885]) and ICM (AUC=0.840, CI [0.809-0.868]). All training and inference code, along with the trained model weights, are publicly available on https://github.com/sinaamirrajab/CMR_CVD.
Sina Amirrajab, Volker Vehof, Michael Bietenbeck +6
Electrocardiography (ECG) is central to cardiovascular care, but conventional AI models are often restricted to common arrhythmias and may generalize poorly across populations or clinically subtle diseases. We developed ECG Contrastive Language-Image Pre-training (ECGCLIP), a signal-language contrastive learning framework that aligns ECG waveforms with expert diagnostic reports. ECGCLIP was pre-trained on 2,837,962 ECG studies from 1,324,856 patients and evaluated on a held-out internal test set plus nine independent external cohorts comprising about 1.5 million ECGs. Evaluation covered 89 downstream tasks, including 45 ECG diagnoses, 39 echocardiographic targets, and 5 rare cardiac diseases, using PRAUC as the primary metric. ECGCLIP consistently improved performance over random initialization and Merl-R18 baselines. On the internal test set, ECGCLIP-R34 achieved strong performance for atrial fibrillation (PRAUC 0.900) and ST-segment elevation myocardial infarction (PRAUC 0.383), with robust generalization across all external cohorts. It also improved low-prevalence and diagnostically elusive diseases, including Ebstein anomaly, constrictive pericarditis, dextrocardia, and cardiac amyloidosis, with internal PRAUC values of 0.253, 0.175, 0.121, and 0.201, respectively. ECGCLIP was data efficient, matching or exceeding full-dataset baseline performance with only 10% of training data. Feature visualization and saliency analysis suggested clinically meaningful representations aligned with established electrocardiographic criteria. These findings indicate that large-scale ECG-report contrastive pre-training can expand routine ECG interpretation beyond common arrhythmias toward broad cardiovascular assessment and opportunistic screening of echocardiographic and rare conditions.
Multimodal Large Language Models (MLLMs) have shown strong performance on public medical benchmarks, yet existing evaluations often remain weak proxies for clinical use, relying on isolated inputs and simplified recognition-style tasks. We introduce CardioLens, a leakage-resistant evaluation testbed for multi-sequence Cardiovascular Magnetic Resonance (CMR), constructed from private hospital archives through a rigorous report-to-QA construction and verification pipeline. CardioLens contains 473,896 slices and 13,494 verified QA pairs across 4D Cine, LGE, perfusion, and T2-weighted imaging, and evaluates three stages of CMR interpretation: image understanding, report generation, and disease diagnosis. Across 24 state-of-the-art MLLMs, CardioLens reveals a substantial clinical reality gap: models perform poorly overall, with performance degrading along the real CMR workflow. Confusion analysis further shows a category-collapse failure mode, where models default to frequent abnormal categories rather than distinguishing clinically distinct findings. To rule out MLLM-compatible input construction as the primary cause, we compare random, clinically motivated, and data-driven slice selection protocols under different slice budgets; performance changes only marginally, typically by about 1%. Explicit reasoning prompts also fail to rescue performance, often making models more conservative rather than improving visual evidence use. These results show that current MLLMs remain far from reliable CMR interpretation, where clinical decisions require integrating distributed evidence across sequences, views, and temporal phases. CardioLens provides a clinically grounded testbed for developing next-generation MLLMs toward real-world clinical deployment.