基于人群的遗传性心脏病患者和心脏骤停复苏患者登记。
A Population-Based Registry of Patients With Inherited Cardiac Conditions and Resuscitated Cardiac Arrest.
机构信息
Greenlane Paediatric and Congenital Cardiac Services, Starship Children's Hospital, Auckland, New Zealand; Instituto de Genética, Universidad Nacional de Colombia, Bogotá, Colombia; Cardiac Inherited Disease Group, Auckland, New Zealand.
Greenlane Paediatric and Congenital Cardiac Services, Starship Children's Hospital, Auckland, New Zealand; Cardiac Inherited Disease Group, Auckland, New Zealand; Department of Physiology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.
出版信息
J Am Coll Cardiol. 2020 Jun 2;75(21):2698-2707. doi: 10.1016/j.jacc.2020.04.004.
BACKGROUND
The relative proportion of each cardiac inherited disease (CID) causing resuscitated sudden cardiac arrest (RSCA) on a population basis is unknown.
OBJECTIVES
This study describes the profile of patients with CIDs presenting with RSCA; their data were collected by the national Cardiac Inherited Diseases Registry New Zealand (CIDRNZ).
METHODS
Data were collated from CIDRNZ probands presenting with RSCA (2002 to 2018).
RESULTS
CID was identified in 115 (51%) of 225 RSCA cases: long QT syndrome (LQTS) (n = 48 [42%]), hypertrophic cardiomyopathy (HCM) (n = 28 [24%]), Brugada syndrome (BrS) (n = 16 [14%]), catecholaminergic polymorphic ventricular tachycardia (CPVT) (n = 9 [8%]), arrhythmogenic right ventricular cardiomyopathy (ARVC) (n = 9 [8%]), and dilated cardiomyopathy (n = 5 [4%]). Seventy-one (62%) of 115 were male. Of 725 probands from the CIDRNZ with CID, the proportion presenting with RSCA was: CPVT, 9 (53%) of 17; BrS, 16 (33%) of 49; ARVC, 9 (25%) of 36; LQTS, 48 (20%) of 238; dilated cardiomyopathy, 5 (9%) of 58; and HCM, 28 (8%) of 354. Incident activity was: normal everyday activities, 44 (40%); exercising, 33 (30%); concurrent illness, 13 (12%); sleeping, 10 (9%); drugs/medication, 9 (8%); and emotion, 2 (2%). LQTS and CPVT predominated in those <24 years of age, 30 (77%) of 39; cardiomyopathies and BrS predominated in those >24 years of age, 49 (64%) of 76. For those >40 years of age, HCM was the most common (33%) CID. A genetic diagnosis in patients with CID was made in 48 (49%) of 98 tested. Diagnosis by age range was as follows: age 1 to 14 years, 78%; age 15 to 24 years, 53%; age 25 to 39 years, 54%; and age >40 years, 26%.
CONCLUSIONS
The commonest CID identified after RSCA was LQTS; the most common CID cause of RSCA for those >40 years of age was HCM. CPVT was the CID most likely to present with RSCA and HCM the least. Genetic yield decreases with age. Only one-third of RSCA cases due to CID occurred while exercising.
背景
在人群基础上，每种遗传性心脏病（CID）导致复苏后心搏骤停（RSCA）的相对比例尚不清楚。
目的
本研究描述了因 RSCA 就诊的 CID 患者的特征；这些数据由新西兰心脏遗传性疾病登记处（CIDRNZ）收集。
方法
从 2002 年至 2018 年期间 CIDRNZ 出现 RSCA 的先证者中收集数据。
结果
在 225 例 RSCA 病例中确定了 CID：长 QT 综合征（LQTS）（n=48 [42%]）、肥厚型心肌病（HCM）（n=28 [24%]）、Brugada 综合征（BrS）（n=16 [14%]）、儿茶酚胺敏感性多形性室性心动过速（CPVT）（n=9 [8%]）、致心律失常性右室心肌病（ARVC）（n=9 [8%]）和扩张型心肌病（n=5 [4%]）。115 例患者中 71 例（62%）为男性。在 CIDRNZ 中，有 725 名患有 CID 的先证者，出现 RSCA 的比例为：CPVT，17 例中有 9 例（53%）；BrS，49 例中有 16 例（33%）；ARVC，36 例中有 9 例（25%）；LQT，238 例中有 48 例（20%）；扩张型心肌病，58 例中有 5 例（9%）；HCM，354 例中有 28 例（8%）。偶发活动包括：日常活动，44 例（40%）；运动，33 例（30%）；并发疾病，13 例（12%）；睡眠，10 例（9%）；药物/药物治疗，9 例（8%）；情绪，2 例（2%）。LQTS 和 CPVT 在<24 岁的患者中更为常见，39 例中有 30 例（77%）；心肌病和 BrS 在>24 岁的患者中更为常见，76 例中有 49 例（64%）。对于>40 岁的患者，HCM 是最常见的 CID（33%）。在 98 例接受检测的患者中，有 48 例（49%）做出了基因诊断。按年龄范围诊断如下：114 岁，78%；1524 岁，53%；25~39 岁，54%；>40 岁，26%。
结论
RSCA 后确定的最常见 CID 是 LQTS；>40 岁 RSCA 最常见的 CID 是 HCM。CPVT 是最有可能因 RSCA 就诊的 CID，HCM 则最不可能。遗传发生率随年龄增长而降低。只有三分之一的因 CID 导致的 RSCA 发生在运动时。
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