儿童和青少年心肌病：欧洲心脏病学会 EURObservational Research Programme 心肌病和心肌炎注册研究的病因、治疗和结局。
Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Registry.
机构信息
Centre for Paediatric Inherited and Rare Cardiovascular Disease, University College London Institute of Cardiovascular Science and Great Ormond Street Hospital NHS Foundation Trust, 20 Guilford Street, WC1N 1DZ London, United Kingdom.
Department of Cardiology, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain.
出版信息
Eur Heart J. 2024 Apr 21;45(16):1443-1454. doi: 10.1093/eurheartj/ehae109.
BACKGROUND AND AIMS
Childhood-onset cardiomyopathies are rare and poorly characterized. This study examined the baseline characteristics and 1-year follow-up of children with cardiomyopathy in the first European Cardiomyopathy Registry.
METHODS
Prospective data were collected on individuals aged 1-<18 years enrolled in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis long-term registry (June 2014-December 2016).
RESULTS
A total of 633 individuals aged ≤18 years with hypertrophic [HCM; n = 388 (61.3%)], dilated [DCM; n = 206 (32.5%)], restrictive [RCM; n = 28 (4.4%)], and arrhythmogenic right ventricular cardiomyopathy [ARVC; n = 11 (1.7%)] were enrolled by 23 referral centres in 14 countries. Median age at diagnosis was 4.0 [interquartile range (IQR) 0-10] years, and there was a male predominance [n = 372 (58.8%)] across all subtypes, with the exception of DCM diagnosed <10 years of age; 621 (98.1%) patients were receiving cardiac medication and 80 (12.6%) had an implantable cardioverter-defibrillator. A total of 253 patients (253/535, 47.3%) had familial disease. Genetic testing was performed in 414 (67.8%) patients with a pathogenic or likely pathogenic variant reported in 250 (60.4%). Rare disease phenocopies were reported in 177 patients (28.0%) and were most frequent in patients under 10 years [142 (30.9%) vs. 35 (19.6%); P = .003]. Over a median follow-up of 12.5 months (IQR 11.3-15.3 months), 18 patients (3.3%) died [HCM n = 9 (2.6%), DCM n = 5 (3.0%), RCM n = 4 (16.0%)]. Heart failure events were most frequent in RCM patients (36.0%).
CONCLUSIONS
The findings confirm the heterogeneous aetiology of childhood cardiomyopathies and show a high frequency of familial disease. Outcomes differed by cardiomyopathy subtype, highlighting a need for disease-specific evaluation and treatment.
背景与目的
儿童期起病的心肌病罕见且特征描述不足。本研究通过首个欧洲心肌病注册研究检查了心肌病患儿的基线特征和 1 年随访结果。
方法
采用前瞻性数据，纳入 2014 年 6 月至 2016 年 12 月在欧洲心脏病学会 EURObservational Research Programme 心肌病和心肌炎长期注册研究中登记的年龄为 1-<18 岁的个体。
结果
23 个研究中心来自 14 个国家共登记了 633 名≤18 岁的个体，包括肥厚型心肌病（HCM；n=388 [61.3%]）、扩张型心肌病（DCM；n=206 [32.5%]）、限制型心肌病（RCM；n=28 [4.4%]）和致心律失常性右室心肌病（ARVC；n=11 [1.7%]）。中位诊断年龄为 4.0 岁[四分位距（IQR）0-10]，除了<10 岁诊断的 DCM 外，所有亚型中男性均占优势[n=372（58.8%）]。621 名（98.1%）患者接受了心脏药物治疗，80 名（12.6%）患者植入了植入式心律转复除颤器。共有 253 名（253/535，47.3%）患者存在家族性疾病。对 414 名（67.8%）患者进行了基因检测，250 名（60.4%）患者报告存在致病性或可能致病性变异。177 名（28.0%）患者报告了罕见疾病表型，<10 岁患者中最常见（142 例[30.9%]比 35 例[19.6%]；P=0.003）。在中位随访 12.5 个月（IQR 11.3-15.3 个月）期间，18 名（3.3%）患者死亡[HCM n=9（2.6%），DCM n=5（3.0%），RCM n=4（16.0%）]。RCM 患者心力衰竭事件发生率最高（36.0%）。
结论
研究结果证实了儿童心肌病的病因具有异质性，并表明家族性疾病的发生率较高。不同心肌病亚型的结局不同，突出了需要进行特定疾病的评估和治疗。
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