Hypertrophic cardiomyopathy: comprehensive insights into pathogenic genes and genotype-phenotype associations.

ABSTRACT: Hypertrophic cardiomyopathy (HCM) is a genetically heterogeneous cardiac disorder characterized by unexplained left ventricular hypertrophy and represents a leading cause of morbidity and sudden cardiac death, particularly in young adults and athletes. Early studies focused on morphological features, but advances in molecular genetics have shifted emphasis toward genetic diagnosis, mechanistic insights, and family-based management. Pathogenic variants in sarcomeric genes, especially MYBPC3 and MYH7, are central to disease development, with specific mutation types linked to distinct hypertrophy patterns and clinical outcomes. The phenotype is further modulated by ethnicity, age, and sex, contributing to substantial variability. Implementation of genetic testing has enabled ide

SUBMITTER: Hao L 

PROVIDER: S-EPMC12901350 | biostudies-literature | 2026

REPOSITORIES: biostudies-literature