Towbin Jeffrey A
The Heart Center, Division of Pediatric Cardiology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.
Pacing Clin Electrophysiol. 2009 Jul;32 Suppl 2:S23-31. doi: 10.1111/j.1540-8159.2009.02381.x.
Hypertrophic cardiomyopathy (HCM) is one of the most common inherited cardiac disorders, with a prevalence in young adults of one in 500 and is defined by its wall thickening.
This chapter of the supplement will present major clinical impacts of this disorder in its predilection to be inherited; its reputation as the most common cause of sudden death in young, healthy, athletic individuals; and its potential to develop heart failure due to either diastolic or systolic dysfunction, so-called "burned out" HCM. Underlying etiologies; diversity of morphologic, functional, and clinical features; and variable age of onset that differentiate the childhood from the adult form of disease will be discussed based on the literature and clinical experience.
In children less than 1 year of age, hypertrophy associated with systolic dysfunction is common. In contradistinction, among apparently healthy young adults, the prevalence of echcocardiographically defined HCM was reported to be as high as 0.2% and associated with diastolic dysfunction. In addition, overlaping disorders such as infiltrative and energy-dependent forms of HCM coexist with other atypical features in childhood, further confounding the presentations, treatments, and outcomes compared to adult disease.
HCM in childhood has a variety of etiologies which may influence diagnostic testing, treatments, and outcomes.
肥厚型心肌病（HCM）是最常见的遗传性心脏疾病之一，在年轻成年人中的患病率为五百分之一，其定义为心肌壁增厚。
本增刊章节将阐述该疾病在遗传易感性方面的主要临床影响；它作为年轻、健康、运动员人群中最常见的猝死原因的名声；以及由于舒张功能或收缩功能障碍发展为心力衰竭的可能性，即所谓的“终末期”HCM。将根据文献和临床经验讨论潜在病因；形态学、功能和临床特征的多样性；以及区分儿童和成人疾病形式的不同发病年龄。
在1岁以下儿童中，与收缩功能障碍相关的肥厚很常见。相反，在看似健康的年轻成年人中，经超声心动图定义的HCM患病率据报道高达0.2%，且与舒张功能障碍相关。此外，诸如浸润性和能量依赖性形式的HCM等重叠疾病在儿童期与其他非典型特征共存，与成人疾病相比，进一步混淆了临床表现、治疗和预后。
儿童期HCM有多种病因，可能影响诊断检查、治疗和预后。
