Rath Anika, Weintraub Robert
Department of Cardiology, Royal Children's Hospital, Melbourne, VIC, Australia.
Heart Research, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Front Pediatr. 2021 Jul 23;9:708732. doi: 10.3389/fped.2021.708732. eCollection 2021.
Paediatric cardiomyopathies are a heterogenous group of rare disorders, characterised by mechanical and electrical abnormalities of the heart muscle. The overall annual incidence of childhood cardiomyopathies is estimated at about 1 per 100,000 children and is significantly higher during the first 2 years of life. Dilated cardiomyopathies account for approximately half of the cases. Hypertrophic cardiomyopathies form the second largest group, followed by the less common left ventricular non-compaction and restrictive phenotypes. Infectious, metabolic, genetic, and syndromic conditions account for the majority of cases. Congestive heart failure is the typical manifestation in children with dilated cardiomyopathy, whereas presenting symptoms are more variable in other phenotypes. The natural history is largely influenced by the type of cardiomyopathy and its underlying aetiology. Results from a national population-based study revealed 10-year transplant-free survival rates of 80, 62, and 48% for hypertrophic, dilated and left ventricular non-compaction cardiomyopathies, respectively. Long-term survival rates of children with a restrictive phenotype have largely been obscured by early listing for heart transplantation. In general, the majority of adverse events, including death and heart transplantation, occur during the first 2 years after the initial presentation. This review provides an overview of childhood cardiomyopathies with a focus on epidemiology, natural history, and outcomes.
小儿心肌病是一组异质性罕见疾病，其特征为心肌的机械和电活动异常。儿童心肌病的总体年发病率估计约为每10万名儿童中有1例，在生命的头两年显著更高。扩张型心肌病约占病例的一半。肥厚型心肌病是第二大类型，其次是较罕见的左心室心肌致密化不全和限制型表型。感染、代谢、遗传和综合征性疾病占大多数病例。充血性心力衰竭是扩张型心肌病患儿的典型表现，而在其他表型中，症状表现则更多样化。自然病程在很大程度上受心肌病类型及其潜在病因的影响。一项基于全国人群的研究结果显示，肥厚型、扩张型和左心室心肌致密化不全型心肌病的10年无移植生存率分别为80%、62%和48%。限制型表型患儿的长期生存率在很大程度上因早期列入心脏移植名单而被掩盖。一般来说，大多数不良事件，包括死亡和心脏移植，都发生在首次出现后的头两年。本综述概述了儿童心肌病，重点关注流行病学、自然病程和预后。
