Pathogenic genes and clinical prognosis in hypertrophic cardiomyopathy

Abstract

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant inherited cardiomyopathy characterized by left ventricular hypertrophy. It is one of the chief causes of sudden cardiac death in younger people and athletes. Molecular-genetic studies have confirmed that the vast majority of HCM is caused by mutations in genes encoding sarcomere proteins. HCM has a relatively wide phenotypic heterogeneity, varying from asymptomatic to sudden cardiac death, because of the many different mutations and pathogenic genes underlying it. Many studies have explored the clinical symptoms and prognosis of HCM, emphasizing the importance of genotype in evaluating patient prognosis and guiding the clinical management of HCM. To elaborate the main pathogenic genes and phenotypic prognosis in HCM to promote a better understanding of this genetic disease. Retrospective analysis of literature to evaluate the association between underlying gene mutations and clinical phenotypes in HCM patients. As sequencing technology advances, the pathogenic gene mutation spectrum and phenotypic characteristics of HCM are gradually becoming clearer. HCM is a widespread inherited disease with a highly variable clinical phenotype. The precise mechanisms linking known pathogenic gene mutations and the clinical course of this heterogeneous condition remain elusive.

Keywords: Hypertrophic cardiomyopathy; Genotype; Phenotype; Pathogenic genes; Prognosis

Core Tip: Hypertrophic cardiomyopathy (HCM) is an autosomal dominant inherited cardiomyopathy with a highly variable clinical phenotype. This paper provides a detailed reference on the pathogenic genes of HCM and their phenotypic prognosis. These findings hold significant potential for guiding clinical decision-making, particularly in personalizing management strategies for HCM patients.