The Capital Regions Unit for Inherited Cardiac Diseases, Department of Cardiology, The Heart Center, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, DK-2100 Copenhagen OE, Denmark.
Department of Cardiology, Herlev-Gentofte Hospital, Copenhagen University Hospital, Herlev Ringvej 75, DK-2730 Herlev, Denmark.
Eur Heart J Cardiovasc Imaging. 2020 Feb 1;21(2):175-182. doi: 10.1093/ehjci/jez204.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease and presymptomatic screening of relatives is recommended. In 2010, the Task Force Criteria (TFC2010) introduced specific diagnostic imaging parameters. The aim of the study was to evaluate the diagnostic yield of family screening and the value of different diagnostic modalities.
Family evaluation, including cardiac magnetic resonance (CMR), is routinely offered to ARVC relatives at our institution. We retrospectively registered baseline characteristics, symptomatology, and results of non-invasive examinations from 2010 to 2016 and assessed the findings according to TFC2010. A total of 286 relatives (150 females; age 12-76 years; 251 first-degree) were included. A total of 103 (36%) individuals reported cardiovascular symptoms. The non-invasive workup showed that 101 (35%) relatives had ≥1 positive parameter on signal-averaged electrocardiogram (ECG), 40 (14%) had abnormal findings on Holter monitoring, 36 (13%) fulfilled an ECG criterion, six (2%) fulfilled CMR criteria, and echocardiographic abnormalities was seen in one (0.3%) relative. In total, 21 (7% overall; 13% among gene-positive subgroup) relatives were diagnosed with ARVC and 78 (27% overall; 49% among gene-positive subgroup) with borderline ARVC based on the combined non-invasive evaluations. Family history and electrical investigations alone diagnosed 20 out of 21 (95%) ARVC cases and 73 out of 78 (94%) borderline cases.
Consecutive evaluation of ARVC relatives diagnosed 7% with definite and 27% with borderline ARVC according to the TFC2010. Screening relatives for electrical abnormalities with 12 lead ECG, signal-averaged ECG, and Holter monitoring was more sensitive than imaging modalities.
致心律失常性右室心肌病（ARVC）是一种遗传性疾病，建议对亲属进行无症状筛查。2010 年，工作组标准（TFC2010）引入了特定的诊断成像参数。本研究的目的是评估家族筛查的诊断效果和不同诊断方式的价值。
我们的机构为 ARVC 亲属常规提供心脏磁共振（CMR）等家族评估。我们回顾性地登记了 2010 年至 2016 年的基线特征、症状和非侵入性检查结果，并根据 TFC2010 评估这些结果。共纳入 286 名亲属（150 名女性；年龄 12-76 岁；251 名为一级亲属）。共有 103 名（36%）个体报告心血管症状。非侵入性检查结果显示，101 名（35%）亲属的心电图（ECG）信号平均有≥1 个阳性参数，40 名（14%）动态心电图监测异常，36 名（13%）符合 ECG 标准，6 名（2%）符合 CMR 标准，1 名（0.3%）亲属的超声心动图有异常。总共，21 名（7%；基因阳性亚组中 13%）亲属被诊断为 ARVC，78 名（27%；基因阳性亚组中 49%）亲属被诊断为 ARVC 边缘状态。仅基于家族史和电生理检查就诊断出 21 例 ARVC（95%）和 78 例 ARVC 边缘状态（94%）。
根据 TFC2010，连续评估 ARVC 亲属诊断出 7%为明确 ARVC 和 27%为 ARVC 边缘状态。使用 12 导联心电图、信号平均心电图和动态心电图监测筛查亲属的电异常比影像学更敏感。
