Children's Heart Centre, Division of Cardiology, Department of Pediatrics, British Columbia's Children's Hospital, Vancouver, British Columbia, Canada.
Division of Cardiology, Department of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
Heart Rhythm. 2020 Jun;17(6):975-981. doi: 10.1016/j.hrthm.2020.01.030. Epub 2020 Feb 6.
Unexplained cardiac arrest (UCA) is rare in children. Despite investigations, the etiology in up to one-half of patients remains unknown.
The purpose of this study was to assess the management and outcomes of pediatric UCA survivors through the Canadian Pediatric Heart Rhythm Network.
A retrospective case series of children (age 1-19 years) who presented with UCA between January 1, 2004, and November 1, 2017, was conducted. Patients with known heart disease pre-UCA were excluded. UCA details, investigations, genetic test results, treatment, implantable cardioverter-defibrillator (ICD) data, subsequent diagnoses, and family screening data were collected.
Forty-six patients (61% male) were survivors of sudden unexpected death and met inclusion criteria at 8 participating sites. Median age at UCA was 13.8 years (interquartile range [IQR] 9-16 years). Baseline retrievable investigations included electrocardiogram (96%), echocardiogram (85%), exercise stress test (73%), and cardiac magnetic resonance imaging (57%). The presumed etiology for the UCA was identified in 24 (52%), mainly long QT syndrome or catecholaminergic polymorphic ventricular tachycardia. Genetic testing was performed in 33 of 46 (72%), with pathogenic/likely pathogenic variants identified in 13 of 33 (39%) and variants of uncertain significance in 8 of 33 (24%). ICDs were implanted in 35 of 46 (76%). Over median follow-up of 36 months (IQR 17-57 months), 8 of 35 had arrhythmia events captured on device interrogation. Families of 26 of 46 patients(57%) underwent screening, leading to a cardiac diagnosis in 6 of 26 families.
A cause for UCA was not identified in nearly 50% of patients despite extensive investigations, including cascade screening. A large proportion (75%) of ICD shocks occurred in patients without a diagnosis.
儿童不明原因心搏骤停（UCA）较为罕见。尽管进行了广泛的检查，但仍有一半患者的病因不明。
本研究旨在通过加拿大儿科心律网评估 UCA 患儿幸存者的管理和预后。
对 2004 年 1 月 1 日至 2017 年 11 月 1 日期间出现 UCA 的 1-19 岁儿童进行了回顾性病例系列研究。排除 UCA 前已知心脏疾病的患者。收集 UCA 详细信息、检查、基因检测结果、治疗、植入式心脏复律除颤器（ICD）数据、后续诊断和家族筛查数据。
8 个参与中心的 46 名（61%为男性）猝死者符合纳入标准，为 UCA 幸存者。UCA 时的中位年龄为 13.8 岁（四分位距[IQR]9-16 岁）。基线可检索的检查包括心电图（96%）、超声心动图（85%）、运动应激试验（73%）和心脏磁共振成像（57%）。24 例（52%）患者明确了 UCA 的病因，主要为长 QT 综合征或儿茶酚胺多形性室性心动过速。对 46 例中的 33 例进行了基因检测，在 33 例中发现了致病性/可能致病性变异 13 例（39%），不确定意义变异 8 例（24%）。对 46 例中的 35 例植入了 ICD。在 36 个月的中位随访（IQR 17-57 个月）中，35 例中的 8 例在设备检测中捕捉到心律失常事件。对 46 例中的 26 例患者的家属进行了筛查，其中 6 例家族被诊断为心脏疾病。
尽管进行了广泛的检查，包括级联筛查，但仍有近 50%的患者未发现 UCA 的病因。在没有诊断的患者中，ICD 电击的比例较大（75%）。
