Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, Great Ormond Street, London, UK.
Department of Paediatric Cardiology, Institute of Cardiovascular Sciences University College London, UK.
Eur Heart J. 2019 Mar 21;40(12):986-993. doi: 10.1093/eurheartj/ehy798.
Understanding the spectrum of disease, symptom burden and natural history are essential for the management of children with hypertrophic cardiomyopathy (HCM). The effect of changing screening practices over time has not previously been studied. This study describes the clinical characteristics and outcomes of childhood HCM over four decades in a well-characterized United Kingdom cohort.
Six hundred and eighty-seven patients with HCM presented at a median age of 5.2 years (range 0-16). Aetiology was: non-syndromic (n = 433, 63%), RASopathy (n = 126, 18.3%), Friedreich's ataxia (n = 59, 8.6%) or inborn errors of metabolism (IEM) (n = 64, 9%). In infants (n = 159, 23%) underlying aetiology was more commonly a RASopathy (42% vs. 11.2%, P < 0.0001) or IEM (18.9% vs. 6.4% P < 0.0001). In those with familial disease, median age of presentation was higher (11 years vs. 6 years, P < 0.0001), 141 (58%) presented <12 years. Freedom from death or transplantation was 90.6% (87.9-92.7%) at 5 years (1.5 per 100 patient years) with no era effect. Mortality was most frequently sudden cardiac death (SCD) (n = 20, 2.9%). Children diagnosed during infancy or with an IEM had a worse prognosis (5-year survival 80.5% or 66.4%). Arrhythmic events occurred at a rate of 1.2 per 100 patient years and were more likely in non-syndromic patients (n = 51, 88%).
This national study describes a heterogeneous disease whose outcomes depend on the age of presentation and aetiology. Overall mortality and SCD rates have not changed over time, but they remain higher than in adults with HCM, with events occurring in syndromic and non-syndromic patients.
了解疾病谱、症状负担和自然病史对于儿童肥厚型心肌病（HCM）的管理至关重要。此前尚未研究过随时间推移改变筛查实践的效果。本研究描述了在一个特征明确的英国队列中，四十年间儿童 HCM 的临床特征和结局。
687 例 HCM 患者的中位年龄为 5.2 岁（范围 0-16 岁）。病因是：非综合征（n=433，63%）、RAS 病（n=126，18.3%）、弗里德里希共济失调（n=59，8.6%）或先天性代谢缺陷（n=64，9%）。在婴儿（n=159，23%）中，病因更常见于 RAS 病（42%比 11.2%，P<0.0001）或先天性代谢缺陷（18.9%比 6.4%，P<0.0001）。在有家族病史的患者中，中位发病年龄较高（11 岁比 6 岁，P<0.0001），141 例（58%）<12 岁。5 年无死亡或移植的生存率为 90.6%（87.9-92.7%），每 100 例患者年有 1.5 例死亡，无时代效应。死亡率最高的是心源性猝死（SCD）（n=20，2.9%）。在婴儿期诊断或有先天性代谢缺陷的儿童预后较差（5 年生存率为 80.5%或 66.4%）。心律失常事件的发生率为每 100 例患者年 1.2 例，更常见于非综合征患者（n=51，88%）。
这项全国性研究描述了一种异质性疾病，其结局取决于发病年龄和病因。总体死亡率和 SCD 率随时间没有变化，但仍高于成人 HCM，在综合征和非综合征患者中均有发生。
