代谢性心肌病  

Cardiomyopathy caused by inborn errors of metabolism

作　　者：武宇辉[1] Wu Yuhui(Pediatric Intensive Care Unit,Shenzhen Children′s Hospital,Shenzhen 518038,China)

机构地区：[1]深圳市儿童医院儿童重症医学科,518038

出　　处：《中国小儿急救医学》2022年第1期19-23,共5页Chinese Pediatric Emergency Medicine

摘　　要：心肌代谢活跃,代谢紊乱导致心肌能量产生不足,引起心肌病变。先天性代谢缺陷是儿童心肌病常见病因之一,表现为肥厚型或扩张型心肌病等类型,导致心力衰竭或心源性休克,甚至猝死。据报道,可引起心肌病的先天性代谢缺陷有40余种,包括脂肪酸氧化障碍、糖原累积病、溶酶体贮积病、线粒体病、有机酸血症、肌酸病和先天性糖基化障碍等。存在多系统受累是其特点之一。及时诊断有助于制定有效的疾病管理策略,改善预后。As the heart is a metabolically active organ,metabolic disorders cause cardiomyopathy in children because of the deficient energy production of the myocardial.Inborn errors of metabolism(IEM)often present with cardiomyopathy,such as hypertrophic cardiomyopathy and dilated cardiomyopathy,leading to heart failure or cardiogenic shock,or even sudden cardiac death.More than 40 IEMs are reported to cause cardiomyopathy,including fatty acid oxidation defects,glycogen or lysosomal storage diseases,mitochondrial cardiomyopathies,organic acidaemias,minoacidopathies and congenital disorders of glycosylation.One of the hallmarks of IEM is multisystemic involvement.The diagnosis is imperative to enable the effective institution of disease-specific management strategies.

关 键 词：遗传 先天性代谢缺陷 代谢 心肌病 儿科 

分 类 号：R725.4[医药卫生—儿科]