Hoogendoorn Jarieke C, Bosman Laurens P, van der Heijden Jeroen F, Wilde Arthur A, van den Berg Maarten P, Yap Sing-Chien, van Tintelen J Peter, Dooijes Dennis, Te Riele Anneline S J M, Zeppenfeld Katja
Department of Cardiology, Willem Einthoven Center for Cardiac Arrhythmia Research and Management (WECAM), Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands.
Department of Cardiology, Division Heart and Lungs, University Medical Center Utrecht, University of Utrecht, Utrecht, The Netherlands.
Europace. 2025 Aug 4;27(8). doi: 10.1093/europace/euaf136.
The task force criteria (TFC) for arrhythmogenic right ventricular cardiomyopathy (ARVC) are highly sensitive but lack specificity. Atypical RV involvement (aRVi) may indicate different underlying aetiologies and prognosis, requiring specific therapeutic interventions. We aimed to evaluate the role of the baseline 12-lead ECG for initial suspicion of aRVi.
From the Netherlands Heart Institute Arrhythmogenic Cardiomyopathy (NHI-ACM) registry, patients were selected who (i) fulfilled TFC for definite ARVC, (ii) presented with sustained ventricular tachycardia (VT), and (iii) underwent genetic testing. The first available ECG after VT was evaluated. PR prolongation ≥220 ms and/or a surface area of the maximum R'-wave in V1-V3 of ≥1.65 mm2 was defined as an aRVi-ECG. Patients with an ARVC-related pathogenic/likely pathogenic variant (P/LP+) were classified as 'ARVC'. Data of P/LP- were reviewed by an expert panel and classified as either 'ARVC' or 'different aetiology' based on consensus.
A total of 159 patients were included (122 P/LP+ and 37 P/LP- patients). Nineteen patients had an aRVi-ECG [11 (9%) P/LP+ vs. 8 (22%) P/LP-, P = 0.038]. Of the P/LP- patients, 17 (46%) were classified as 'different aetiology' (e.g. myocarditis, ischaemia, sarcoidosis), including all 8 patients with an aRVi-ECG. Among the P/LP+ patients with an aRVi-ECG, 46% carried the p.Arg14del phospholamban pathogenic variant, and 64% died compared to 15 and 19% of P/LP+ patients without an aRVi-ECG, respectively (both P < 0.01).
In P/LP- patients presenting with VT and fulfilling TFC, an aRVi-ECG should raise suspicion for a different underlying aetiology. In P/LP+ patients, an aRVi-ECG may identify those with poor outcome.
致心律失常性右室心肌病（ARVC）的工作组标准（TFC）具有高度敏感性，但缺乏特异性。非典型右室受累（aRVi）可能提示不同的潜在病因和预后，需要特定的治疗干预措施。我们旨在评估基线12导联心电图在aRVi初步怀疑中的作用。
从荷兰心脏研究所致心律失常性心肌病（NHI-ACM）登记处选取患者，这些患者（i）符合确诊ARVC的TFC标准，（ii）出现持续性室性心动过速（VT），（iii）接受了基因检测。对VT发作后的首次可用心电图进行评估。PR间期延长≥220 ms和/或V1-V3导联最大R'波表面积≥1.65 mm2被定义为aRVi心电图。携带与ARVC相关的致病/可能致病变异（P/LP+）的患者被分类为“ARVC”。P/LP-患者的数据由专家小组审查，并根据共识分类为“ARVC”或“不同病因”。
共纳入159例患者（122例P/LP+患者和37例P/LP-患者）。19例患者有aRVi心电图[11例（9%）P/LP+患者 vs. 8例（22%）P/LP-患者，P = 0.038]。在P/LP-患者中，17例（46%）被分类为“不同病因”（如心肌炎、缺血、结节病），包括所有8例有aRVi心电图的患者。在有aRVi心电图的P/LP+患者中，46%携带p.Arg14del磷酸受磷蛋白致病变异，64%死亡，而无aRVi心电图的P/LP+患者分别为15%和19%（均P < 0.01）。
在出现VT且符合TFC标准的P/LP-患者中，aRVi心电图应引起对不同潜在病因的怀疑。在P/LP+患者中，aRVi心电图可能识别出预后不良的患者。
