CMR-based phenotyping guides genotype interpretation in hypertrophic cardiomyopathy: insights from MYH7, MYBPC3, and variants of uncertain significance
The phenotypic distinction between MYH7 and MYBPC3, the two major causative genes of hypertrophic cardiomyopathy (HCM), remains unclear, limiting genotype-informed management. In addition, the clinical interpretation of variants of uncertain significance (VUS) poses a persistent challenge. This study aims...