Oral Abstract Session 02: Early Career Awards 2: Translational (2018)-Effect of rare variants in Hypertrophic Cardiomyopathy genes on cardiac morphology in health and disease using machine-learning of CMR

Effect of rare variants in Hypertrophic Cardiomyopathy genes on cardiac morphology in health and disease using machine-learning of CMR

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Video Summary

Antonio, a clinical lecturer at Imperial College, presented machine-learning analysis of cardiac MRI for imaging-genetics research in hypertrophic cardiomyopathy (HCM). He explained that HCM is an inherited disease with varied left-ventricular hypertrophy patterns and questioned whether genotype-positive patients are truly phenotype-negative. Using deep-learning models on large cohorts, his team detected subtle structural changes missed by standard imaging. They found pathogenic HCM variants in healthy volunteers, especially thick-filament mutations linked to increased septal thickness, and showed genotype-specific differences in HCM, with thin-filament variants causing milder hypertrophy.

Keywords

hypertrophic cardiomyopathy

cardiac MRI

machine learning

genotype-phenotype

deep learning