Relationship between genotype and clinical phenotype of hypertrophic cardiomyopathy.

Abstract

Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease, mostly inherited in an autosomal dominant manner. It is a global heart disease with complex clinical phenotypes and gene expression. The prevalence rate in the population is 1:500-1:200. This article mainly introduces the diagnostic criteria, pathological manifestations, and genetic basis of HCM, which is the leading cause of sudden death in adolescents and athletes due to exercise, with 60%-70% showing familial clustering. It also discusses the latest progress in the relationship between different genotypes and clinical phenotypes of HCM patients.