Department of Paediatric Cardiology, Oslo University Hospital, Rikshospitalet, Sognsvannsveien 20, 0372 Oslo, Norway.
ProCardio Center for Innovation, Department of Cardiology, Oslo University Hospital, Rikshospitalet, Sognsvannsveien 9, 0372 Oslo, Norway.
Eur Heart J. 2022 Dec 1;43(45):4694-4703. doi: 10.1093/eurheartj/ehac485.
This study aimed to explore the incidence of severe cardiac events in paediatric arrhythmogenic right ventricular cardiomyopathy (ARVC) patients and ARVC penetrance in paediatric relatives. Furthermore, the phenotype in childhood-onset ARVC was described.
Consecutive ARVC paediatric patients and genotype positive relatives ≤18 years of age were followed with electrocardiographic, structural, and arrhythmic characteristics according to the 2010 revised Task Force Criteria. Penetrance of ARVC disease was defined as fulfilling definite ARVC criteria and severe cardiac events were defined as cardiac death, heart transplantation (HTx) or severe ventricular arrhythmias. Childhood-onset disease was defined as meeting definite ARVC criteria ≤12 years of age.
Among 62 individuals [age 9.8 (5.0-14.0) years, 11 probands], 20 (32%) fulfilled definite ARVC diagnosis, of which 8 (40%) had childhood-onset disease. The incidence of severe cardiac events was 23% (n = 14) by last follow-up and half of them occurred in patients ≤12 years of age. Among the eight patients with childhood-onset disease, five had biventricular involvement needing HTx and three had severe arrhythmic events. Among the 51 relatives, 6% (n = 3) met definite ARVC criteria at time of genetic diagnosis, increasing to 18% (n = 9) at end of follow-up.
In a paediatric ARVC cohort, there was a high incidence of severe cardiac events and half of them occurred in children ≤12 years of age. The ARVC penetrance in genotype positive paediatric relatives was 18%. These findings of a high-malignant phenotype in childhood-onset ARVC indicate a need for ARVC family screening at younger age than currently recommended.
本研究旨在探讨儿科致心律失常性右室心肌病（ARVC）患者严重心脏事件的发生率和儿科亲属中 ARVC 的外显率。此外，还描述了儿童起病 ARVC 的表型。
连续纳入符合 2010 年修订后的 ARVC 工作组标准的 ARVC 儿科患者和≤18 岁基因型阳性亲属，随访其心电图、结构和心律失常特征。ARVC 疾病的外显率定义为符合明确 ARVC 标准，严重心脏事件定义为心脏性死亡、心脏移植（HTx）或严重室性心律失常。儿童起病疾病定义为≤12 岁时符合明确 ARVC 标准。
在 62 名个体[年龄 9.8（5.0-14.0）岁，11 名先证者]中，20 名（32%）符合明确 ARVC 诊断，其中 8 名（40%）患有儿童起病疾病。截至最后一次随访时，严重心脏事件的发生率为 23%（n=14），其中一半发生在≤12 岁的患者中。在 8 名患有儿童起病疾病的患者中，有 5 名患者存在双心室受累需要 HTx，3 名患者发生严重心律失常事件。在 51 名亲属中，6%（n=3）在基因诊断时符合明确 ARVC 标准，随访结束时增至 18%（n=9）。
在儿科 ARVC 队列中，严重心脏事件的发生率较高，其中一半发生在≤12 岁的儿童中。基因型阳性儿科亲属中 ARVC 的外显率为 18%。这些儿童起病 ARVC 高恶性表型的发现表明，需要比目前推荐的更早的年龄对 ARVC 家族进行筛查。
