TRACE: Expert-Aligned ECG Representation Learning with Rigorous Benchmarking and Real-World Validation in Acute Cardiac Care

Electrocardiograms (ECGs) are widely used non-invasive measurements of cardiac activity and play a central role in clinical diagnosis. Recent multimodal approaches align ECG signals with clinical reports to incorporate diagnostic semantics, but clinical reports often fail to preserve the rich physiological structure of ECG waveforms, particularly across multiple levels of abstraction ranging from coarse diagnostic categories to fine-grained morphology. To address this limitation, we formulate ECG representation learning from an information-theoretic perspective and derive a tractable objective that jointly preserves signal structure and integrates clinical semantics. Based on this principle, we propose \textbf{MERIT} (Multimodal ECG Representation via Information Theory), a dual-branch pretraining framework combining masked ECG modeling with ECG--text contrastive alignment. Extensive experiments on PTB-XL and additional benchmarks demonstrate consistent improvements over prior methods, including gains exceeding $3$ F1 on PTB-XL All and $5$ F1 on SubClass classification. In zero-shot evaluation, MERIT further improves performance by up to $+2.66\%$ AUC and $+2.11\%$ F1 on PTB-XL SubClass, while also demonstrating robustness under multiple distribution-shift settings. Moreover, leveraging the learned ECG representations for ECG-conditioned clinical text generation with large language models improves text quality across several metrics, including ROUGE and METEOR. Together, these results demonstrate that MERIT learns more informative and clinically meaningful ECG representations, particularly for fine-grained clinical applications.

Deep learning has advanced automated electrocardiogram (ECG) diagnosis, but the field's most accurate models, foundation models pretrained on millions of recordings, are not decision-pathway auditable: a clinician cannot trace a diagnosis to a physiological pathway or intervene on one. We propose TRACE, a Tractable Routing Autoencoder for Clinical ECG, whose 32-dimensional clinical latent space is specified in advance from domain knowledge rather than discovered by optimization. TRACE partitions this space into perfusion, structure, and conduction subspaces, routes each to its own diagnostic head by design, regularizes the partition with an orthogonality penalty, and reconstructs the ECG through a decoder that permits latent perturbation. On PTB-XL and Georgia, TRACE exceeds unconstrained classifiers and stays ahead of an ECG foundation model pretrained on ten million recordings, evaluated by linear probe on frozen features, at roughly an eighth of the parameter count. On the nine-label CPSC2018 cohort, which carries no structural class, the framework transfers with only the routing table re-specified to a perfusion/rhythm/conduction partition. Joint probe, erasure, and perturbation analyses verify the routing contract, and perturbing the depolarization and repolarization pathways modulates the reconstructed waveform. Removing the specified partition and its orthogonality penalty costs 1.70 AUC and 11.30 macro-F1 points on PTB-XL, and 2.76 AUC and 16.92 macro-F1 points on Georgia. A capacity-matched permutation control places arbitrary assignments within 0.34 AUC points of the ontology routing and leaves macro-F1 statistically level (p=0.619): the ontology supplies decision-pathway auditability at no macro-F1 cost.

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.