Identification of Hypertrophic Cardiomyopathy on Electrocardiographic Images with Deep Learning

Background: Hypertrophic cardiomyopathy (HCM) affects 1 in every 200 individuals and is the leading cause of sudden cardiac death in young adults. HCM can be identified using an electrocardiogram (ECG) raw voltage data and deep learning approaches, but their point-of-care application is limited by the inaccessibility of these signal data. We developed a deep learning-based approach that overcomes this limitation and detects HCM from images of 12-lead ECGs across layouts.

Methods: We identified ECGs from patients with HCM features present on cardiac magnetic resonance imaging (CMR) or those within 30 days of an echocardiogram documenting thickened interventricular septum (end-diastolic interventricular septum thickness > 15mm). Patients with CMR-confirmed HCM were considered as cases during the final model evaluation. The model was validated within clinical settings at YNHH and externally on ECG images from the prospective, population-based UK Biobank cohort. We localized class-discriminating signals in ECG images using gradient-weighted class activation mapping.

Results: Overall, 124,553 ECGs from 66,987 individuals (HCM cases and controls) were used for model development. The model demonstrated high discrimination for HCM across various ECG image formats and calibrations in internal validation (area under receiving operation characteristics [AUROC] 0.96) and external sets of ECG images from UK Biobank (AUROC 0.94). A positive screen for HCM was associated with a 100-fold higher odds of CMR-confirmed HCM (OR 102.4, 95% Confidence Interval, 57.4 - 182.6) in the held-out set. Class-discriminative patterns localized to the anterior and lateral leads (V4-V5).

Conclusions: We developed and externally validated a deep learning model that identifies HCM from ECG images with excellent discrimination. This approach represents an automated, efficient, and accessible screening strategy for HCM.