Genetic insights into hypertrophic cardiomyopathy: pathogenesis, diagnosis, and therapeutic implications.

ABSTRACT: We conducted a comprehensive literature review of sarcomeric gene studies, registry analyses, and recent cohort investigations, focusing on genetic testing outcomes and clinical prognostication. Sarcomeric mutations account for approximately 60% of familial hypertrophic cardiomyopathy (HCM) cases and exhibit variable penetrance and expressivity. Additionally, mitochondrial DNA variants and nonsarcomeric genetic modifiers contribute to the phenotypic heterogeneity observed in HCM. Genetic testing facilitates diagnosis in atypical cases, guides cascade testing in families, and supports reproductive decision-making. Long-term follow-up data from registries indicate that sarcomere-positive patients are diagnosed approximately 13 years earlier and experience nearly double the 50-year incidence

SUBMITTER: Choi EY 

PROVIDER: S-EPMC12278546 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature