儿童肥厚型心肌病的病因学进展

Progress in etiology of hypertrophic cardiomyopathy in children

儿童肥厚型心肌病(HCM)是一类常见的心血管遗传基因异常疾病,多数为单基因常染色体显性遗传性心肌病,也不排除其他遗传方式。HCM以心室对称性或非对称性肥厚为主要特征,组织病理学特点为心肌细胞肥大、排列紊乱以及纤维化。一般将儿童HCM分为原发性和继发性两种,原发性以编码肌小节蛋白基因突变为主要病因,非肌小节蛋白基因突变次之;其中肌小节性HCM以MYH7、MYBPC3、TNNT等基因突变为主。继发性病因包括肥胖、糖尿病母亲婴儿、运动员综合征、异常激素增高或药物诱发等。

Hypertrophic cardiomyopathy(HCM)in children is a kind of common cardiovascular genetic abnormalities disease,mostly single gene autosomal dominant inherited cardiomyopathy,although it does not exclude other genetic patterns. The main features of HCM are symmetrical or asymmetrical ventricular hypertrophy,and histopathological characteristics are myocyte hypertrophy,being disorganized,and fibrosis. Generally,HCM in children is divided into primary and secondary types. Mutation of sarcomere protein gene is the main cause of primary cardiomyopathy,followed by mutation of non-sarcomere protein gene.Mutation of MYH7,MYBPC3,TNNT and other genes are the main causes of sarcomere HCM. Secondary causes include obesity,diabetic mothers and babies,athlete syndrome,abnormal hormone elevation or drug-induced and so on.