Ningbo Hospital of Zhejiang University, Ningbo 315000, China.
Zhejiang University School of Medicine, Hangzhou 310029, China.
Yi Chuan. 2022 Mar 20;44(3):198-207. doi: 10.16288/j.yczz.21-324.
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.
肥厚型心肌病（HCM）是一种常染色体显性遗传疾病，其特征为左心室肥厚，患病率为 1/500-1/200。迄今为止，已发现 30 多个基因中的 1500 种突变与该病有关。致病基因突变与修饰基因多态性和环境因素共同作用于疾病过程，导致疾病表型的异质性，从无症状到心源性猝死不等。HCM 的病理表型主要包括心肌细胞肥大、排列紊乱、纤维化、心肌缺血等。近年来，人们致力于研究 HCM 基因型对表型的影响，并基于遗传学开发治疗方法。本文重点探讨了 HCM 基因型与表型的相关性，并从致病基因、发病机制、相关修饰因素和治疗方法等方面对 HCM 的研究进展进行综述，为 HCM 遗传学的未来研究和发展提供了思路。
