Division of Cardiology, Cardiocentro Ticino, Lugano, Switzerland.
Faculty of Biomedical Sciences, USI, Lugano, Switzerland.
Europace. 2020 Dec 23;22(12):1904-1910. doi: 10.1093/europace/euaa223.
The spectrum of inherited arrhythmogenic diseases (IADs) includes disorders without overt structural abnormalities (i.e. primary inherited arrhythmia syndromes) and structural heart diseases (i.e. arrhythmogenic ventricular cardiomyopathy, hypertrophic cardiomyopathy). The aim of this European Heart Rhythm Association (EHRA) survey was to evaluate current clinical practice and adherence to 2015 European Society of Cardiology Guidelines regarding the management of patients with IADs. A 24-item centre-based online questionnaire was presented to the EHRA Research Network Centres and the European Cardiac Arrhythmia Genetics Focus Group members. There were 46 responses from 20 different countries. The survey revealed that 37% of centres did not have any dedicated unit focusing on patients with IADs. Provocative drug challenges were widely used to rule-out Brugada syndrome (BrS) (91% of centres), while they were used in a minority of centres during the diagnostic assessment of long-QT syndrome (11%), early repolarization syndrome (12%), or catecholaminergic polymorphic ventricular tachycardia (18%). While all centres advised family clinical screening with electrocardiograms for all first-degree family members of patients with IADs, genetic testing was advised in family members of probands with positive genetic testing by 33% of centres. Sudden cardiac death risk stratification was straightforward and in line with current guidelines for hypertrophic cardiomyopathy, while it was controversial for other diseases (i.e. BrS). Finally, indications for ventricular mapping and ablation procedures in BrS were variable and not in agreement with current guidelines in up to 54% of centres.
遗传性心律失常疾病（IAD）的范围包括无明显结构异常的疾病（即原发性遗传性心律失常综合征）和结构性心脏病（即心律失常性心室心肌病、肥厚型心肌病）。这项欧洲心脏病学会心律协会（EHRA）调查的目的是评估目前关于 IAD 患者管理的 2015 年欧洲心脏病学会指南的临床实践和依从性。一项包含 24 个项目的以中心为基础的在线问卷被提交给了 EHRA 研究网络中心和欧洲心律失常遗传学重点小组的成员。来自 20 个不同国家的 46 个中心做出了回应。调查显示，37%的中心没有任何专门的单位来关注 IAD 患者。激发药物试验被广泛用于排除 Brugada 综合征（BrS）（91%的中心），而在长 QT 综合征（11%）、早期复极综合征（12%）或儿茶酚胺能多形性室性心动过速（18%）的诊断评估中，只有少数中心使用这种方法。虽然所有中心都建议对 IAD 患者的所有一级亲属进行心电图的家族临床筛查，但只有 33%的中心建议对先证者阳性基因检测的家族成员进行基因检测。肥厚型心肌病的心脏性猝死风险分层是简单直接的，符合目前的指南，但对于其他疾病（如 BrS）则存在争议。最后，BrS 中心进行心室映射和消融程序的指征是可变的，与高达 54%的中心目前的指南不一致。
