肥厚型心肌病基因突变的临床意义

肥厚型心肌病（hypertrophic cardiomyopathy,HCM）是以心肌肥厚尤其是左心室不对称性心肌肥厚、心肌纤维肥大、排列紊乱为病理特征的原发性心肌病,是目前年轻人和运动员常见的猝死原因之一。目前HCM通常被认为是一种基因突变所导致的常染色体疾病,呈显性遗传。最近研究发现心脏肌节蛋白基因以及相关的线粒体基因与修饰基因的基因突变,超过900种不同的基因突变类型与HCM发生发展以及临床表型有关。本文主要就近年来关于HCM常见的基因突变与其临床意义的研究作一综述。

Clinical significance of genetic mutation in hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy(HCM) is a primary cardiac disorder characterized by the thickening of myocardial,especially thickening of the left ventricular wall,fiber hypertrophy and arrangement of myocardial,and it is one of the most common cause of sudden death in the young and athletes.This disease is usually inherited as a Mendelian autosomal dominant trait.There are cardiac sarcomere gene mutations,mitochondrial DNA mutations and modifying gene mutations,more than 900 types of mutations,related to the p...