Concealed deep phenotype abnormalities in subclinical hypertrophic cardiomyopathy detected by advanced imaging

Abstract

Background: Predicting disease penetrance in individuals with pathogenic sarcomere mutation (G+) without hypertrophy (LVH-) is a significant clinical challenge in hypertrophic cardiomyopathy, that currently requires lifelong imaging surveillance. We combined deep phenotyping with machine learning to detect abnormalities that may be missed by conventional tests.