🤖 AI Summary
This study addresses the limited interpretability and suboptimal accuracy in automated multi-class electrocardiogram (ECG) diagnosis of inherited arrhythmias, specifically arrhythmogenic right ventricular cardiomyopathy (ARVC) and long QT syndrome (LQTS). To this end, we propose a deep learning framework that integrates a Lead-aware Spatial Attention Network (LASAN) with a pre-trained ECG foundation model such as HuBERT-ECG. By incorporating lead-aware architecture and transfer learning strategies—including fine-tuning and linear probing—the model achieves both interpretable, disease-specific modeling of lead dependencies and near-theoretical performance on multi-class classification. The approach attains a macro-AUROC of 0.990, with binary AUROC scores of 0.999 for ARVC and 0.994 for LQTS, while the derived lead importance aligns closely with established clinical and physiological understanding.
📝 Abstract
Arrhythmogenic right ventricular cardiomyopathy (ARVC) and long QT syndrome (LQTS) are inherited arrhythmia syndromes associated with sudden cardiac death. Deep learning shows promise for ECG interpretation, but multi-class inherited arrhythmia classification with clinically grounded interpretability remains underdeveloped. Our objective was to develop and validate a lead-aware deep learning framework for multi-class (ARVC vs LQTS vs control) and binary inherited arrhythmia classification, and to determine optimal strategies for integrating ECG foundation models within arrhythmia screening tools. We assembled a 13-center Canadian cohort (645 patients; 1,344 ECGs). We evaluated four ECG foundation models using three transfer learning approaches: linear probing, fine-tuning, and combined strategies. We developed lead-aware spatial attention networks (LASAN) and assessed integration strategies combining LASAN with foundation models. Performance was compared against the established foundation model baselines. Lead-group masking quantified disease-specific lead dependence. Fine-tuning outperformed linear probing and combined strategies across all foundation models (mean macro-AUROC 0.904 vs 0.825). The best lead-aware integrations achieved near-ceiling performance (HuBERT-ECG hybrid: macro-AUROC 0.990; ARVC vs control AUROC 0.999; LQTS vs control AUROC 0.994). Lead masking demonstrated physiologic plausibility: V1-V3 were most critical for ARVC detection (4.54% AUROC reduction), while lateral leads were preferentially important for LQTS (2.60% drop). Lead-aware architectures achieved state-of-the-art performance for inherited arrhythmia classification, outperforming all existing published models on both binary and multi-class tasks while demonstrating clinically aligned lead dependence. These findings support potential utility for automated ECG screening pending validation.