El-Battrawy Ibrahim, Mügge Andreas, Akin Ibrahim, Nguyen Huu Phuc, Milting Hendrik, Aweimer Assem
Institut für Forschung und Lehre (IFL), Department of Molecular and Experimental Cardiology, Research Group Molecular Cardiology Ruhr-Universität Bochum, Germany; Department of Cardiology, St. Josef-Hospital,Ruhr-Universität-Bochum; First Department of Medicine, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany; Department of Human Genetics, Faculty of Medicine Ruhr-Universität Bochum, Germany; Erich and Hanna Klessmann Institute for Cardiovascular Research and Development, Clinic for Thoracic and Cardiovascular Surgery, Heart and Diabetes Center NRW, Bad Oeynhausen, Germany.
Dtsch Arztebl Int. 2024 Oct 4;121(20):665-672. doi: 10.3238/arztebl.m2024.0130.
Sudden cardiac death (SCD) is the death of an apparently healthy person within one hour of the onset of symptoms, or within 24 hours of last being seen alive and well-with no evidence of an extra-cardiac cause. In autopsied cases, SCD is defined as the natural unexpected death of unknown or cardiac cause. The reported incidence figures for SCD vary widely.
This review is based on clinical registry studies, metaanalyses, randomized controlled trials, systematic reviews, and current guidelines that were retrieved by a selective search in PubMed employing the key words "channelopathy," "Brugada syndrome," "long QT syndrome," "catecholaminergic polymorphic ventricular tachycardia," "short QT syndrome," and "early repolarization."
Approximately 18% of cases of SCD in young persons are associated with cardiac channelopathy. The most common ion channel diseases affecting the heart are long QT syndrome and Brugada syndrome. The diagnosis is established by specific ECG abnormalities in the absence of structural heart disease. These can be unmasked by various maneuvers, e.g., the administration of sodium-channel blockers in Brugada syndrome. Imaging studies such as echocardiography, coronary angiography, and computed tomography are used to rule out structural heart disease and coro nary artery disease. Long-term ECG and risk stratification scores can be useful aids to therapeutic decision-making. For some of these diseases, it is advisable for the patient to avoid particular triggers of ECG changes and cardiac arrhythmias in his or her everyday life. The near relatives of persons with congenital ion channel diseases should undergo clinical and gen etic screening to protect them from SCD.
The affected families should be investigated systematically so that appropriate diagnoses and treatments can be established.
心源性猝死（SCD）是指表面健康的人在症状发作后1小时内死亡，或在最后一次被看到健康存活后24小时内死亡，且无心脏外病因的证据。在尸检病例中，SCD被定义为原因不明或心脏原因导致的自然意外死亡。报道的SCD发病率数据差异很大。
本综述基于临床注册研究、荟萃分析、随机对照试验、系统评价以及通过在PubMed中使用关键词“通道病”“Brugada综合征”“长QT综合征”“儿茶酚胺能多形性室性心动过速”“短QT综合征”和“早期复极”进行选择性检索获得的当前指南。
年轻人中约18%的心源性猝死病例与心脏通道病有关。影响心脏的最常见离子通道疾病是长QT综合征和Brugada综合征。诊断通过无结构性心脏病时的特定心电图异常来确立。这些异常可通过各种手段揭示，例如在Brugada综合征中使用钠通道阻滞剂。超声心动图、冠状动脉造影和计算机断层扫描等影像学检查用于排除结构性心脏病和冠状动脉疾病。长期心电图和风险分层评分有助于治疗决策。对于其中一些疾病，建议患者在日常生活中避免特定的心电图变化和心律失常触发因素。先天性离子通道疾病患者的近亲应接受临床和基因筛查，以预防心源性猝死。
应对受影响的家庭进行系统调查，以便确立适当的诊断和治疗方法。
