Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands; Netherlands Heart Institute, Utrecht, The Netherlands.
Netherlands Heart Institute, Utrecht, The Netherlands; Department of Cardiology, University Medical Center Utrecht, University of Utrecht, Utrecht, The Netherlands.
Heart Rhythm. 2022 Oct;19(10):1659-1665. doi: 10.1016/j.hrthm.2022.05.038. Epub 2022 Jun 7.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by risk of malignant ventricular arrhythmia (VA). ARVC is diagnosed using an array of clinical tests in the consensus-based Task Force Criteria (TFC), one of which is genetic testing.
The purpose of this study was to investigate the value of genetic testing in diagnosing ARVC and its relation to the occurrence of first malignant VA.
A multicenter cohort of patients with ARVC was scored using the revised 2010 TFC with and without genetic criterion, analyzing any resulting loss or delay of diagnosis. Malignant VA was defined as sustained VA (≥30-second duration at ≥100 beats/min or requiring intervention).
We included 402 subjects (221 [55%] male; 216 [54%] proband; 40 [27-51] years old at presentation) who were diagnosed with definite ARVC. A total of 232 subjects (58%) fulfilled genetic testing criteria. Removing the genetic criterion caused loss of diagnosis in 18 patients (4%) (11 of 216 probands [5%] and 7 of 186 relatives [4%]) and delay of diagnosis by ≥30 days in 22 patients (5%) (21 of 216 probands [10%] and 1 of 186 relative [0.5%]). A first malignant VA occurred in no patients who lost diagnosis and in 3 patients (3 of 216 probands [1%] and no relatives) during their diagnosis delay, none fatal. Time-to-event analysis showed no significant difference in time from diagnosis to malignant VA between pathogenic variant carriers and noncarriers.
Disregarding the genetic criterion of the TFC caused loss or delay of diagnosis in 10% of patients with ARVC (40 of 402). Malignant VA occurred in 1% of cases with lost or delayed diagnosis (3 of 402), none fatal.
致心律失常性右心室心肌病（ARVC）的特征是恶性室性心律失常（VA）的风险。ARVC 使用基于共识的工作组标准（TFC）中的一系列临床测试进行诊断，其中之一是基因测试。
本研究旨在探讨基因检测在 ARVC 诊断中的价值及其与首次恶性 VA 发生的关系。
使用修订后的 2010 年 TFC 对 ARVC 多中心队列患者进行评分，同时分析有无遗传标准，分析任何由此导致的诊断延迟或漏诊。恶性 VA 定义为持续性 VA（≥30 秒，≥100 次/分或需要干预）。
我们纳入了 402 名患者（221 名[55%]男性；216 名[54%]先证者；发病时年龄为 40[27-51]岁），被诊断为明确的 ARVC。共有 232 名患者（58%）符合基因检测标准。去除遗传标准导致 18 名患者（4%）漏诊（216 名先证者中 11 名[5%]和 186 名亲属中 7 名[4%]）和 22 名患者（5%）诊断延迟≥30 天（216 名先证者中 21 名[10%]和 186 名亲属中 1 名[0.5%]）。无患者在漏诊时发生首次恶性 VA，在诊断延迟时，有 3 名患者（216 名先证者中 3 名[1%]和无亲属）发生恶性 VA，均无致命性。生存分析显示，携带致病性变异和非携带者从诊断到恶性 VA 的时间无显著差异。
在 ARVC 患者中，不考虑 TFC 的遗传标准会导致 10%（40 例/402 例）的患者漏诊或延迟诊断。在漏诊或延迟诊断的病例中，有 1%（402 例中有 3 例）发生恶性 VA，均无致命性。
