Song Yan-Rui, Liu Zhong, Gu Shu-Lian, Qian Li-Juan, Yan Qing-Feng
College of Life Sciences, Zhejiang University, Hangzhou 310058, China.
Yi Chuan. 2011 Jun;33(6):549-57. doi: 10.3724/sp.j.1005.2011.00549.
Hypertrophic Cardiomyopathy (HCM) is a primary cardiac disorder characterized by asymmetric thickening of the septum and left ventricular wall. HCM affects 1 in 500 individuals in the general population, and it is the most common cause of sudden death in the young and athletes. The clinic phenotype of HCM is highly variable with respect to age at onset, degree of symptoms, and risk of sudden death. HCM is usually inherited as a Mendelian autosomal dominant trait. To date, over 900 mutations have been reported in HCM, which were mainly located in 13 genes encoding cardiac sarcomere protein, e.g., MYH7, MYBPC3, and TnT. In addition, more and more mitochondrial DNA mutations were reported to be associated with the pathogenesis of HCM. Based on the description of the clinical phenotype and morphological characteristics, this review focuses on the research in the molecular pathogenic mechanism of HCM and its recent advances.
肥厚型心肌病（HCM）是一种原发性心脏疾病，其特征是室间隔和左心室壁不对称增厚。HCM在普通人群中的发病率为1/500，是年轻人和运动员猝死的最常见原因。HCM的临床表型在发病年龄、症状程度和猝死风险方面具有高度变异性。HCM通常作为孟德尔常染色体显性性状遗传。迄今为止，已报道HCM中有900多种突变，这些突变主要位于13个编码心肌肌节蛋白的基因中，例如MYH7、MYBPC3和TnT。此外，越来越多的线粒体DNA突变被报道与HCM的发病机制有关。基于临床表型和形态学特征的描述，本综述重点关注HCM分子致病机制的研究及其最新进展。
