肥厚型心肌病是以心肌肥厚、心肌纤维化、肌细胞排列紊乱为病理特征的原发性心肌病,是年轻人和运动员常见猝死原因之一,肥厚型心肌病是一种基因突变所导致的常染色体显性疾病.近年来研究发现多种基因突变类型与肥厚型心肌病发生发展及临床表型有关.现主要就近年来关于肥厚型心肌病常见的基因突变与其临床意义的研究做一综述.“,”Hypertrophic cardiomyopathy (HCM) is a primary cardiomyopathy characterized by myocardial hypertrophy ,myocardial fibrosis,and muscle cell disorder .It is one of the common causes of sudden death in young people and athletes .HCM is an autosomal dominant disorder caused by a genetic mutation .Recent studies have found that the types of mutations are associated with the development and clinical phenotype of HCM .In this paper,we reviewed the recent studies on the gene mutation and its clinical significance in patients with HCM.