Research progress of the correlation between genotype and phenotype in hypertrophic cardiomyopathy.
Yi Chuan
; 44(3): 198-207, 2022 Mar 20.
Article
em En
| MEDLINE
| ID: mdl-35307643
ABSTRACT
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic disease characterized by left ventricular hypertrophy with prevalence of 1/500-1/200. Up to now, 1500 mutations in more than 30 genes have been found to be related to the disease. Pathogenic gene mutations together with polymorphisms of modifying genes and environmental factors play various roles in the disease processes, resulting in phenotypic heterogeneity of the disease, ranging from no symptoms to sudden cardiac death. The pathological phenotypes of HCM mainly include cardiomyocyte hypertrophy, disordered array, fibrosis, myocardial ischemia, and others. In recent years, many research efforts have been devoted to exploring the influence of HCM genotype on phenotype, and development of treatment methods based on genetics. This article focuses on the correction between HCM genotype and phenotype and summarizes the research progresses on HCM in terms of pathogenic genes, pathogenesis, associated modification factors and treatment methods, thereby providing insights on the future research and development on the genetics of HCM.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cardiomiopatia Hipertrófica
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
Idioma:
En
Revista:
Yi Chuan
Assunto da revista:
GENETICA
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
China