家族性肥厚型心肌病分子遗传学研究进展

Molecular Genetics of Familial Hypertrophic Cardiomyopathy

家族性肥厚型心肌病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13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。

Familial hypertrophic cardiomyopathy （FHCM） is a genetically heterogeneous cardiac disease transmitted as an autosomal dominant trait. It is the leading cause of sudden cardiac! death（SCD） in youth. At least 13 genes mutation has now been identified to cause FHCM. Understanding the molecular genetics mechanisms will provide new avenues for diagnosis and treatment for FHCM. The thesis reviews the latest studies of this aspect.