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medRxiv

Artificial Intelligence-Enhanced Electrocardiography for Detection and Prediction of Hypertrophic Cardiomyopathy across Monogenic and Polygenic Susceptibility

In 1,095 carriers of pathogenic or likely pathogenic sarcomere variants across three international centers, a previously validated AI-ECG model applied to 12-lead ECG images yielded an AUROC of 0.91 for the HCM phenotype at baseline and 0.92 for manifest HCM, a higher AI-ECG score among genotype-positive/phenotype-negative individuals predicted incident HCM during follow-up (unadjusted HR 1.55 per 1-SD; adjusted HR 1.38), and in 57,007 UK Biobank participants the AI-ECG score and a polygenic risk score were independent and additive, with adjusted odds of HCM of 60.2 when both were high.