肥厚型心肌病的局部心肌功能变化和分子遗传学基础

Regional myocardial function and genetic bases in patients with hypertrophic cardiomyopathy

肥厚型心肌病是一类常染色体显性遗传性疾病，多数为编码心肌肌原纤维的基因突变所致。常见的突变基因为肌球蛋白重链基因、肌球蛋白结合蛋白C基因、肌钙蛋白基因、廿原肌球蛋白基因以及一些非肌小节基因。不同的基因突变导致的肥厚型心肌病其局部心肌收缩及舒张运动也出现不同程度的改变：收缩运动减弱；Ca^2＋敏感性增加，舒张功能减退。该文从遗传学角度阐述了以上常见基因突变造成的不同心肌功能变化，并从基因水平解释了不同基因突变造成不同心肌运动功能改变的原因。

Hypertrophic cardiomypathy is a genetically heterogeneous cardiac disease transmitted as an autosomal dominant trait,mostly caused by mutant of myofribriUa gene such as βMHC, MYBPC3, cTnT, cTnI,cTnC, a-Tm and some other gene which coding non-myofribrilla. Different mutant caused different regional myocardium systolic or diastole function, which involve in dysfunction of systolic and diastohc deformation, increase of the sensitive of Ca^2＋. This review summarizes the most common gene mutations in hypertrophic cardiomypathy and explains the changes of myocardial functions.