A Signal-Language Foundation Model for Broad-Spectrum Cardiovascular Assessment from Routine Electrocardiography

Background: Foundation models (FMs) trained on large-scale unlabeled physiological data have emerged as a promising paradigm for medical artificial intelligence. Their ability to capture clinically meaningful, transferable representations for rare diseases remains largely unproven. This study investigates whether FM pre-training provides genuine clinical generalization benefits beyond improved optimization for rare electrocardiographic (ECG) phenotypes. Methods: We systematically evaluated nine publicly available ECG FMs for Brugada syndrome detection on the BrSwiss cohort (294 patients, 87 cases) and the independent external HUCA cohort (363 patients, 76 cases), under three strategies (from-scratch training, linear probing, full fine-tuning) across several configurations, including a 3% data ablation and zero-shot cross-site transfers. Results: Pre-training was necessary for high-capacity architectures unable to converge from scratch (AUC gain up to 0.411, p < 0.05), but gave no significant gain for compact architectures already converged on labeled data alone. On full BrSwiss, the best fine-tuned FM (ECG-CPC, AUC = 0.962) only marginally exceeded the strongest supervised baseline (ECG-CPC from scratch, AUC = 0.932; p = 0.091). At matched training-set size, the data-efficiency advantage on BrSwiss-3% (AUC gain = 0.055, p < 0.01) did not replicate on HUCA. Under zero-shot cross-site transfer, FM-based pipelines did not generalize better than supervised baselines, all approaching chance-level performance. Conclusion: For Brugada syndrome detection, FM pre-training is mechanical rather than semantic, providing optimization stability rather than transferable clinical knowledge. These findings challenge the assumption that large-scale pre-training inherently encodes clinically meaningful representations, highlighting the central role of model architecture and data-domain alignment.

Long-tailed label distributions reduce the reliability of deep learning for electrocardiogram (ECG) arrhythmia diagnosis, particularly for clinically important but rare abnormalities. Existing rebalancing and logit adjustment methods mainly address class frequency while overlooking direction-dependent morphological variability across ECG classes. This study proposes Angular Gaussian Supervised Contrastive Learning (AG-SCL) for long-tailed multi-label ECG diagnosis. AG-SCL integrates three components into a unified framework: an Angular Gaussian contrastive branch that models full-covariance class uncertainty on unit-normalized embeddings, Adaptive Logit Adjustment that learns bounded label-state-specific prior corrections instead of fixed frequency-based margins, and tail-aware augmentation that generates morphology-preserving views while protecting the 7-25 Hz QRS-dominant band. The method was evaluated on the public PTB-XL benchmark and a nocturnal ECG dataset comprising 1317 hours of recordings from 141 subjects. AG-SCL achieved the best macro-level performance on both datasets. On PTB-XL, it obtained a balanced accuracy of 0.838, sensitivity of 0.709, specificity of 0.968, mean average precision of 0.495, and TPR at 5% FPR of 0.778. On Noc-ECG, the corresponding values were 0.918, 0.889, 0.947, 0.488, and 0.900. The largest gains occurred in rare or morphologically unstable rhythm classes, while ablation studies confirmed the contributions of full-covariance modelling, Adaptive Logit Adjustment, and tail-aware augmentation. AG-SCL improves long-tailed ECG diagnosis by combining prior calibration with anisotropic representation learning, enhancing sensitivity to rare arrhythmias while maintaining clinically relevant specificity. Our code is available at: https://github.com/Open-EXG/AG-SCL-for-Long-Tailed-ECG.

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.