Department of Cardiology, Division Heart and Lungs, University Medical Center Utrecht, Utrecht, the Netherlands; Department of Cardiology, Catharina Hospital Eindhoven, Eindhoven, the Netherlands.
University of Amsterdam, Amsterdam, the Netherlands.
JACC Cardiovasc Imaging. 2019 Mar;12(3):446-455. doi: 10.1016/j.jcmg.2018.01.012. Epub 2018 Mar 14.
The aim of this study was to investigate the prognostic value of echocardiographic deformation imaging in arrhythmogenic right ventricular cardiomyopathy (ARVC) to optimize family screening protocols.
ARVC is characterized by variable disease expressivity among family members, which complicates family screening protocols. Previous reports have shown that echocardiographic deformation imaging detects abnormal right ventricular (RV) deformation in the absence of established disease expression in ARVC.
First-degree relatives of patients with ARVC were evaluated according to 2010 task force criteria, including RV deformation imaging (n = 128). Relatives fulfilling structural task force criteria were excluded for further analysis. At baseline, deformation patterns of the subtricuspid region were scored as type I (normal deformation), type II (delayed onset, decreased systolic peak, and post-systolic shortening), or type III (systolic stretching and large post-systolic shortening). The final study population comprised relatives who underwent a second evaluation during follow-up. Disease progression was defined as the development of a new 2010 task force criterion during follow-up that was absent at baseline.
Sixty-five relatives underwent a second evaluation after a mean follow-up period of 3.7 ± 2.1 years. At baseline, 28 relatives (43%) had normal deformation (type I), and 37 relatives (57%) had abnormal deformation (type II or III) in the subtricuspid region. Disease progression occurred in 4% of the relatives with normal deformation at baseline and in 43% of the relatives with abnormal deformation at baseline (p < 0.001). Positive and negative predictive values of abnormal deformation were, respectively, 43% (95% confidence interval: 27% to 61%) and 96% (95% confidence interval: 82% to 100%).
Normal RV deformation in the subtricuspid region is associated with absence of disease progression during nearly 4-year follow-up in relatives of patients with ARVC. Abnormal RV deformation seems to precede the established signs of ARVC. RV deformation imaging may potentially play an important role in ARVC family screening protocols.
本研究旨在探讨超声心动图应变成像在致心律失常性右心室心肌病（ARVC）中的预后价值，以优化家族筛查方案。
ARVC 的家族成员具有不同的疾病表达，这使得家族筛查方案变得复杂。先前的报告表明，超声心动图应变成像可在 ARVC 中尚未出现明确疾病表现的情况下检测到异常的右心室（RV）变形。
根据 2010 年工作组标准，对 ARVC 患者的一级亲属进行评估，包括 RV 应变成像（n=128）。对于符合结构性工作组标准的亲属，将其排除在进一步分析之外。在基线时，将三尖瓣下区域的应变模式评分 I 型（正常应变）、II 型（起始延迟、收缩峰降低和收缩后缩短）或 III 型（收缩期拉伸和较大收缩后缩短）。最终研究人群包括在随访期间接受第二次评估的亲属。疾病进展定义为在随访期间出现新的 2010 年工作组标准，而该标准在基线时不存在。
65 名亲属在平均 3.7±2.1 年的随访后接受了第二次评估。基线时，28 名亲属（43%）RV 应变正常（I 型），37 名亲属（57%）RV 应变异常（II 型或 III 型）。基线时 RV 应变正常的亲属中，有 4%发生疾病进展，而基线时 RV 应变异常的亲属中，有 43%发生疾病进展（p<0.001）。异常应变的阳性和阴性预测值分别为 43%（95%置信区间：27%至 61%）和 96%（95%置信区间：82%至 100%）。
在 ARVC 患者的一级亲属中，近 4 年的随访中，三尖瓣下区域 RV 正常应变与疾病进展无关。RV 异常应变似乎先于 ARVC 的明确征象出现。RV 应变成像可能在 ARVC 家族筛查方案中发挥重要作用。
