Inherited Arrhythmogenic Cardiomyopathies and Sports Cardiology Unit, Department of Cardiac, Thoracic and Vascular Sciences, University of Padova Medical School, Padova, Italy.
Division of Cardiology, University of Texas Southwestern Medical Center, Dallas, USA.
Eur Heart J. 2022 Aug 21;43(32):3029-3040. doi: 10.1093/eurheartj/ehac298.
Many previously unexplained life-threatening ventricular arrhythmias and sudden cardiac deaths (SCDs) in young individuals are now recognized to be genetic in nature and are ascribed to a growing number of distinct inherited arrhythmogenic diseases. These include hypertrophic cardiomyopathy, arrhythmogenic cardiomyopathy, long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia (VT), and short QT syndrome. Because of their lower frequency compared to coronary disease, risk factors for SCD are not very precise in patients with inherited arrhythmogenic diseases. As randomized studies are generally non-feasible and may even be ethically unjustifiable, especially in the presence of effective therapies, the risk assessment of malignant arrhythmic events such as SCD, cardiac arrest due to ventricular fibrillation (VF), appropriate implantable cardioverter defibrillator (ICD) interventions, or ICD therapy on fast VT/VF to guide ICD implantation is based on observational data and expert consensus. In this document, we review risk factors for SCD and indications for ICD implantation and additional therapies. What emerges is that, allowing for some important differences between cardiomyopathies and channelopathies, there is a growing and disquieting trend to create, and then use, semi-automated systems (risk scores, risk calculators, and, to some extent, even guidelines) which then dictate therapeutic choices. Their common denominator is a tendency to favour ICD implantation, sometime with reason, sometime without it. This contrasts with the time-honoured approach of selecting, among the available therapies, the best option (ICDs included) based on the clinical judgement for the specific patient and after having assessed the protection provided by optimal medical treatment.
许多以前无法解释的危及生命的室性心律失常和心脏性猝死 (SCD) 在年轻人中现已被确认为遗传性，并归因于越来越多不同的遗传性心律失常疾病。这些疾病包括肥厚型心肌病、心律失常性心肌病、长 QT 综合征、Brugada 综合征、儿茶酚胺多形性室性心动过速 (VT) 和短 QT 综合征。由于与冠心病相比，遗传性心律失常疾病患者的 SCD 风险因素并不非常准确。由于随机研究通常不可行，甚至在存在有效治疗的情况下可能在伦理上不合理，因此对恶性心律失常事件（如 SCD、由心室颤动 (VF) 引起的心脏骤停、适当的植入式心脏复律除颤器 (ICD) 干预或 ICD 治疗快速 VT/VF 以指导 ICD 植入）的风险评估是基于观察性数据和专家共识。在本文件中，我们回顾了 SCD 的风险因素以及 ICD 植入和其他治疗的适应证。结果表明，尽管心肌病和通道病之间存在一些重要差异，但创建半自动系统（风险评分、风险计算器，在某种程度上甚至是指南）并随后决定治疗选择的趋势越来越明显，令人不安。它们的共同点是倾向于赞成 ICD 植入，有时有充分的理由，有时则没有。这与根据特定患者的临床判断并在评估最佳药物治疗提供的保护后，从可用治疗方法中选择最佳选择（包括 ICD）的悠久方法形成对比。
