摘要
扩张型心肌病是以左心室或双心室扩张并伴有左心收缩功能不全为特点的心肌疾病,是儿童心肌病中最常见的类型。扩张型心肌病病因复杂多样,约40%的患儿可检测到相应的致病基因。扩张型心肌病的致病基因具有广泛的异质性,编码细胞骨架、核膜、离子通道、肌小节蛋白等多种基因发生突变均可导致发病。基因测序作为一种明确相应基因突变位点及类型的精准手段,对具有恶性心律失常高风险的突变类型尤为重要。既往,心脏的形态结构是心肌病分类的主要依据,而基因检测技术正在成为心肌病的精细分类工具,有助于患儿的早期诊断与治疗。该文通过综述与儿童扩张型心肌病相关的致病基因及其相应的致病机制,为临床诊断及预防提供帮助。
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.
作者
张锰(综述)
沈捷(审校)
Zhang Meng;Shen Jie(Department of Cardiology,Shanghai Children′s Medical Center,School of Medicine,Shanghai Jiao Tong University,Shanghai 200127,China)
出处
《国际儿科学杂志》
2023年第7期431-434,共4页
International Journal of Pediatrics
关键词
儿童
扩张型心肌病
基因突变
Children
Dilated cardiomyopathy
Genetic mutation
