儿童肥厚型心肌病的遗传学研究进展

Research progress in genetics of hypertrophic cardiomyopathy in children

肥厚型心肌病(hypertrophic cardiomyopathy,HCM)是儿童及青壮年心脏性猝死的重要原因之一,成人HCM的发病率为1/500,主要为编码肌小节相关蛋白突变,最常见的为MYH7和MYBPC3,儿童HCM发病率尚不明确,病因更加复杂,临床表现呈高度异质性,并存在多种非肌小节病变,包括代谢贮积疾病、RASopathies、神经退行性疾病、线粒体疾病等,超过40个基因与儿童HCM相关,最常见的遗传方式为常染色体显性遗传,其他还有常染色体隐性遗传、X连锁显性及隐性遗传、线粒体遗传。

Hypertrophic cardiomyopathy(HCM)is one of the leading causes of sudden cardiac death(SCD)in children and young adults. The incidence of HCM in adults is 1/500,which is mainly coding sarcomere-associated protein gene mutations. The most common are MYH7 and MYBPC3. The incidence of HCM in children is unclear,and the etiology is more complicated. The clinical manifestations are highly heterogeneous. There are many kinds of non-sarcomere mutations,including metabolic storage diseases,RASopathies,neurodegenerative diseases and mitochondrial diseases. Up to now,more than 40 genes are associated with pediatric HCM. Multiple modes of inheritance account for HCM,among which autosomal dominant inheritance is the most common mode. Others include autosomal recessive,X-linked,and mitochondrial inheritance.