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肥厚型心肌病(hypertrophic cardiomyopathy,HCM)是一种以常染色体显性遗传为特征的具有遗传异质性的心脏疾病,它是年轻人心源性猝死的首要病因。已发现至少有18种基因的突变可导致家族性肥厚型心肌病,加深对其分子遗传学的认识有利于促进该病的诊断和治疗。现就家族性肥厚型心肌病近期分子遗传学的研究进行了总结。
Hypertrophic cardiomyopathy (HCM) is a hereditary heterogeneous heart disease characterized by autosomal dominant inheritance. It is the leading cause of sudden cardiac death in young people. It has been found that at least 18 kinds of gene mutations can lead to familial hypertrophic cardiomyopathy, to deepen its understanding of molecular genetics contribute to the diagnosis and treatment of the disease. Recent research on molecular genetics of familial hypertrophic cardiomyopathy was summarized.