Background: Late survival and symptomatic status of children with hypertrophic cardiomyopathy have not been well defined. We examined long-term outcomes for pediatric hypertrophic cardiomyopathy.

Methods: The National Australian Childhood Cardiomyopathy Study is a longitudinal population-based cohort study of children (0–10 years of age) diagnosed with cardiomyopathy between 1987 and 1996. The primary study end point was time to death or cardiac transplantation.

Results: There were 80 patients with hypertrophic cardiomyopathy, with a median age at diagnosis of 0.48 (interquartile range, 0.1, 2.5) years. Freedom from death/transplantation was 86% (95% confidence interval [CI], 77.0–92.0) 1 year after presentation, 80% (95% CI, 69.0–87.0) at 10 years, and 78% (95% CI, 67.0–86.0) at 20 years. From multivariable analyses, risk factors for death/transplantation included symmetrical left ventricular hypertrophy at the time of diagnosis (hazard ratio, 4.20; 95% CI, 1.60–11.05; P=0.004), Noonan syndrome (hazard ratio, 2.88; 95% CI, 1.02–8.08; P=0.045), higher posterior wall thickness z score (hazard ratio, 1.45; 95% CI, 1.22–1.73; P<0.001), and lower fractional shortening z score (hazard ratio, 0.84; 95% CI, 0.74–0.95; P=0.005) during follow-up. Nineteen (23%) subjects underwent left ventricular myectomy. At a median of 15.7 years of follow-up, 27 (42%) of 63 survivors were treated with β-blocker, and 13 (21%) had an implantable cardioverter-defibrillator.

Conclusions: The highest risk of death or transplantation for children with hypertrophic cardiomyopathy is within 1 year after diagnosis, with low attrition rates thereafter. Many subjects receive medical, surgical, or device therapy.

背景：肥厚型心肌病患儿的晚期生存和症状状态尚未明确。我们检查了小儿肥厚型心肌病的长期预后。

方法：澳大利亚国家儿童心肌病研究是一项基于人群的纵向队列研究，研究对象是1987年至1996年之间被诊断为心肌病的儿童（0-10岁）。主要研究终点是死亡时间或心脏移植时间。

结果： 80例肥厚型心肌病患者，诊断中位年龄为0.48岁（四分位间距为0.1、2.5）岁。出院后1年免于死亡/移植的自由度为86％（95％置信区间[CI]，77.0-92.0），10年时为80％（95％CI，69.0-87.0），78％（95％CI，67.0） –86.0）在20年时。通过多变量分析，死亡/移植的危险因素包括诊断时对称的左心室肥厚（危险比，4.20； 95％CI，1.60-11.05；P = 0.004），Noonan综合征（危险比，2.88； 95％CI ，1.02-8.08；P = 0.045），较高的后壁厚度z评分（危险比，1.45； 95％CI，1.22-1.73；P <0.001）和较低的缩短分数z随访期间的危险评分（危险比，0.84； 95％CI，0.74-0.95；P = 0.005）。19名（23％）受试者接受了左心室肌切除术。在15.7年的中位随访时间中，有63位幸存者中有27位（42％）接受了β受体阻滞剂的治疗，有13位（21％）接受了植入式心脏复律除颤器的治疗。

结论：肥厚型心肌病患儿死亡或移植的最高风险是在确诊后1年内，此后的流失率很低。许多受试者接受医学，外科或设备疗法。