Clinically Actionable Hypertrophic Cardiomyopathy Genes in South Asian Indian Patients.

ABSTRACT:

Background

Primary hypertrophic cardiomyopathy (HCM) is predominantly a genetic disease causing left ventricular hypertrophy in the absence of other cardiac and systemic metabolic diseases. Currently, limited data exist on the prevalence of clinically actionable gene variants for primary HCM in South Asian Indian (SAI) patients, which are necessary for minimizing disparities in interpreting ancestry-specific variants. The ClinGen Hereditary Cardiovascular Disorders Gene Curation Expert Panel categorized HCM-causing genes into 5 categories according to their clinical relevance: definitive, strong, moderate, limited, and disputed. However, comprehensive studies examining this classification in SAI patients are lacking.

Methods

Whole-exome sequencing was performed for 335 prima

SUBMITTER: Rao VJ 

PROVIDER: S-EPMC12684790 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature