Sarcomere gene mutations and dilated cardiomyopathy / 国际儿科学杂志

ABSTRACT

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.