[Recent Research on Childhood Hypertrophic Cardiomyopathy Caused by Gene Mutations]

Hypertrophic cardiomyopathy (HCM) is the most common monogenic inherited myocardial disease in children, and mutations in sarcomere genes (such as and ) are the most common genetic etiology of HCM, among which mutations in the gene are the most common and account for 30%-50%. gene mutations have the characteristics of being affected by environmental factors, coexisting with multiple genetic variations, and age-dependent penetrance, which leads to different or overlapping clinical phenotypes in children, including various cardiomyopathies and skeletal myopathies. At present, the pathogenesis, course, and prognosis of HCM caused by gene mutations in children remain unclear. This article summarizes the possible pathogenesis, clinical phenotype, and treatment of HCM caused by gene mutations, in order to facilitate the accurate prognostic evaluation and individualized management and treatment of the children with this disorder.