摘要
心肌病约占儿科心脏病1%,但病死率高,预后较差。心肌病根据形态学及病理生理改变,分为扩张型、肥厚型、限制型、致心律失常型及未分类型心肌病。在此基础上按病因分为遗传性及非遗传性亚型。随着分子遗传学发展,缺陷基因、代谢缺陷病检测技术的临床应用,越来越多的病因得以查明。诊断基于临床表现、家族史、心脏形态检测线索,针对性作缺陷基因、代谢缺陷及神经肌肉疾病筛查以寻找病因,必要时行心内膜心肌活检。治疗在现阶段主要基于心功能改善等,更多的治疗方式有望改善心肌病预后。
Cardiomyopathy in children is a rare disorder with poor outcome. According to its pathology and pathophysiolo- gy, it＇s classified as dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic fight ventricular cardiomyopathy and unclassified types. The pathogenic basis for cardiomyopathy includes genetic muta- tion, metabolic disorder and inflammation. Diagnostic proce- dure is based on clinical features, family history and morpho- logical details of heart, and genetic and metabolic disorder screening. Management of cardiomyopathy now mainly aims at improving heart function. Many more treatments are expected to improve its prognosis.
出处
《中国实用儿科杂志》
CSCD
北大核心
2014年第9期644-650,共7页
Chinese Journal of Practical Pediatrics
关键词
心肌病
儿童
遗传
代谢缺陷
cardiomyopathy
children
inherited
metabolic dis-order
