肌小节基因突变与扩张型心肌病

Sarcomere gene mutations and dilated cardiomyopathy

扩张型心肌病(dilated cardiomyopathy,DCM)是当前临床最常见的儿童心肌疾病类型,其主要表现为左心室或双心室扩大及心肌收缩功能障碍,常伴发各型心律失常。DCM起病隐匿,猝死率高。目前除心脏移植外尚无其他有效治疗方法,所以,DCM严重威胁患儿生命健康。随着生物信息学飞速发展,二代测序及数据挖掘广泛应用于DCM诊疗。MYH7、TNNT2、TTN等众多肌小节基因突变,在DCM发生发展过程中引起广泛关注。该文汇总近年来肌小节基因突变与DCM的相关研究成果,聚焦相应基因的功能及其突变对心脏的影响,系统阐述肌小节基因突变导致DCM的具体机制,为将来DCM精准医疗提供一定参考。

Dilated cardiomyopathy(DCM)is the most common type of childhood myocardial disease in the clinic.It is mainly characterized by left ventricular or biventricular enlargement and myocardial contractile dysfunction, often accompanied by various arrhythmias.DCM is insidious and has a high rate of sudden death.At present, there is no alternative option to heart transplantation, thus DCM seriously threatens the life and health of children.With the rapid development of bioinformatics, second-generation sequencing and data mining are widely used in DCM diagnosis and treatment.Many sarcomere gene mutations such as MYH7, TNNT2, TTN, have attracted wide attention during the development of DCM.In this paper, the research results of sarcomere gene mutation and DCM in recent years are summarized, and the function of the corresponding gene and its effect on the heart are discussed.This review describes the specific mechanism of DCM gene mutation leading to DCM, which provides a reference for future DCM precision medicine.