Advances in genetics of dilated cardiomyopathy in children / 国际儿科学杂志

ABSTRACT

Dilated cardiomyopathy is the myocardial disease characterized by left ventricular or biventricular dilatation accompanied by left ventricular systolic dysfunction, and is the most common type of cardiomyopathy in children.The etiology of dilated cardiomyopathy is complex and diverse, and the corresponding pathogenic gene can be detected in about 40% of patients.The pathogenic genes of dilated cardiomyopathy have a wide range of heterogeneity, encoding cytoskeleton, nuclear membrane, ion channel, sarcomere protein, and other genes that can lead to dilated cardiomyopathy.The technology of gene detection provides an accurate mean for clinics to identify the corresponding mutation sites and types, especially for the mutation types with a high risk of arrhythmia.In the past, the morphological structure of the heart was the main basis for the classification of cardiomyopathy.Genetic testing technology is becoming a tool for the subdivision of cardiomyopathy, providing early diagnosis and treatment for children.This review summarizes the pathogenic genes and corresponding pathogenic mechanisms associated with dilated cardiomyopathy in children, so as to provide help for clinical diagnosis and prevention.