Abstract：
Idiopathic ventricular fibrillation (IVF) is diagnosed in out-of-hospital VF survivors after comprehensive investigations have excluded structural heart disease or inherited channelopathies. Current guidelines recommend clinical screening of first-degree relatives of IVF survivors, but this approach has not been validated in children. This study aimed to assess the yield of clinical cardiac screening in child first-degree relatives of IVF victims. A retrospective observational study was conducted of all consecutive pediatric first-degree relatives of IVF patients referred to our center between December 2007 and April 2020. Patients underwent systematic evaluation including medical and family history; 12-lead resting, signal-averaged, and ambulatory electrocardiogram (ECG); echocardiogram; exercise testing; cardiac magnetic resonance imaging; and ajmaline provocation testing. Sixty child first-degree relatives of 32 IVF survivors were included [median follow-up time of 55 months (IQR 27.0-87.0 months); 30 (50%) females]. Eight patients (13.3%) from 6 families (18.8%) received a cardiac diagnosis: long QT syndrome (n = 4); Brugada syndrome (n = 3); and dilated cardiomyopathy (n = 1). There were no deaths during follow-up. This study demonstrates a high yield of clinical screening for inherited cardiac disease in child first-degree relatives of IVF survivors. These findings highlight the variable expression of inherited cardiac conditions and the importance of comprehensive clinical evaluation in pediatric relatives, even when extensive investigations in the proband have not identified a clear etiology. Moreover, our results support the validity of the investigations proposed by current guidelines in family relatives of IVF survivors.
摘要：
在全面调查排除结构性心脏病或遗传性信道病之后，在院外VF幸存者中诊断出特发性心室纤颤（IVF）。目前的指南建议对IVF幸存者的一级亲属进行临床筛查，但这种方法尚未在儿童中得到验证。这项研究旨在评估IVF受害者的儿童一级亲属的临床心脏筛查的产量。对2007年12月至2020年4月期间转诊到我们中心的所有IVF患者的连续儿科一级亲属进行了回顾性观察研究。患者接受系统评估，包括病史和家族史；12导联静息，信号平均，和动态心电图（ECG）；超声心动图；运动测试；心脏磁共振成像；和ajmaline激发测试。包括32名IVF幸存者的60名儿童一级亲属[中位随访时间为55个月（IQR27.0-87.0个月）；30名（50％）女性]。来自6个家庭（18.8％）的8名患者（13.3％）接受了心脏诊断：长QT综合征（n=4）；Brugada综合征（n=3）；和扩张型心肌病（n=1）。随访期间无死亡病例。这项研究表明，在IVF幸存者的儿童一级亲属中，遗传性心脏病的临床筛查率很高。这些发现突出了遗传性心脏病的可变表达和儿科亲属综合临床评估的重要性。即使在先证者的广泛调查中也没有确定明确的病因。此外，我们的结果支持现行指南在IVF幸存者家庭亲属中提出的调查的有效性.
