Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, United States; Department of Internal Medicine (Clinician-Investigator Training Program), Mayo Clinic, Rochester, MN, United States.
Department of Cardiovascular Medicine (Division of Heart Rhythm Services), Mayo Clinic, Rochester, MN, United States; Department of Pediatric and Adolescent Medicine (Division of Pediatric Cardiology), Mayo Clinic, Rochester, MN, United States; Department of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN, United States.
Int J Cardiol. 2018 Nov 1;270:214-220. doi: 10.1016/j.ijcard.2018.05.100. Epub 2018 May 30.
Sudden cardiac arrest (SCA) may be the sentinel expression of a sudden cardiac death-predisposing genetic heart disease (GHD). Although shown to underlie many unexplained SCAs in the young, the contribution of GHDs to sentinel SCA has never been quantified across the age spectrum. Thus, we sought to determine the contribution of GHDs in single-center referral cohort of non-ischemic SCA survivors.
Retrospective analysis of 3037 patients was used to identify all individuals who experienced a sentinel event of SCA. Following exclusion of patients with ischemic or complex congenital heart disease, cases were classified by clinical diagnoses. Overall, 180 (5.9%) referral patients experienced a sentinel SCA (average age at SCA 28 ± 15 years, 99 females). An etiology was identified in 113/180 patients (62.8%) including channelopathies in 26.7%, arrhythmogenic bileaflet mitral valve prolapse in 10.6%, cardiomyopathies in 9.4%, other etiologies in 6.7%, acquired long QT syndrome in 6.7%, and multiple disorders in 2.8%. The remaining 67/180 (37.2%) cases were classified as idiopathic ventricular fibrillation (IVF). Interestingly, the contribution of GHDs declined precipitously after the first decade of life [90.0% (age 0-9; n = 20), 58.7% (age 10-19; n = 46), 28.1% (age 20-29; n = 32), 23.8% (age 30-39; n = 42), 16.7% (age 40-49; n = 24), and 12.5% (age 50+; n = 16)].
Within a referral population enriched for GHDs, the ability of a comprehensive cardiac evaluation, including genetic testing, to elucidate a root cause in non-ischemic SCA survivors declined with age. Although rare, GHDs can underlie SCA into adulthood and merit consideration across the age spectrum.
心脏性猝死（SCA）可能是潜在的心脏性猝死易患遗传心脏病（GHD）的信号表达。尽管在年轻人中发现许多不明原因的 SCA 与 GHD 有关，但 GHD 对 SCA 信号表达的贡献从未在整个年龄谱中进行过定量评估。因此，我们试图确定单中心转诊队列中非缺血性 SCA 幸存者中 GHD 的贡献。
对 3037 例患者进行回顾性分析，以确定所有经历 SCA 信号事件的患者。排除缺血性或复杂先天性心脏病患者后，根据临床诊断对病例进行分类。总体而言，180 例（5.9%）转诊患者发生 SCA 信号表达（SCA 平均年龄 28±15 岁，99 例女性）。180 例患者中有 113 例（62.8%）确定了病因，包括 26.7%的通道病、10.6%的心律失常性二尖瓣瓣叶脱垂、9.4%的心肌病、6.7%的其他病因、6.7%的获得性长 QT 综合征和 2.8%的多种疾病。其余 67/180 例（37.2%）被归类为特发性室颤（IVF）。有趣的是，GHD 的贡献在生命的第一个十年后急剧下降[90.0%（0-9 岁；n=20）、58.7%（10-19 岁；n=46）、28.1%（20-29 岁；n=32）、23.8%（30-39 岁；n=42）、16.7%（40-49 岁；n=24）和 12.5%（50 岁以上；n=16）]。
在一个 GHD 丰富的转诊人群中，包括基因检测在内的全面心脏评估确定非缺血性 SCA 幸存者根本原因的能力随着年龄的增长而下降。尽管罕见，但 GHD 可能导致成年期的 SCA，因此需要在整个年龄谱中考虑。
