OBJECTIVES 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. BACKGROUND 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. METHODS 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. RESULTS 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%). CONCLUSIONS 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.

中文翻译：

---

右心室变形成像对早期致心律失常性右心室心肌病的预后价值。

目的 本研究的目的是探讨超声心动图变形成像对致心律失常性右心室心肌病 (ARVC) 的预后价值，以优化家庭筛查方案。背景 ARVC 的特点是家庭成员之间的疾病表现不同，这使家庭筛查方案变得复杂。先前的报告表明，在 ARVC 中没有确定的疾病表达的情况下，超声心动图变形成像可以检测到异常的右心室 (RV) 变形。方法 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 变形成像 (n = 128)。满足结构性工作组标准的亲属被排除在外以进行进一步分析。在基线时，三尖瓣下区域的变形模式被评分为 I ​​型（正常变形）、II 型（延迟发作、收缩期峰值降低和收缩后缩短）或 III 型（收缩期拉伸和收缩后大幅缩短）。最终的研究人群包括在随访期间接受第二次评估的亲属。疾病进展被定义为在随访期间制定了新的 2010 年工作组标准，而基线时则没有。结果 65 名亲属在平均随访 3.7 ± 2.1 年后接受了第二次评估。基线时，28 名亲属（43%）有正常变形（I 型），37 名亲属（57%）在三尖瓣下区域有异常变形（II 型或 III 型）。基线变形正常的亲属中有 4% 发生疾病进展，基线变形异常的亲属中有 43% 发生疾病进展 (p < 0.001)。异常变形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%）。结论 在 ARVC 患者亲属近 4 年的随访中，三尖瓣下区域正常的右心室变形与疾病无进展相关。右心室异常变形似乎先于 ARVC 的既定迹象出现。RV 变形成像可能在 ARVC 家族筛查方案中发挥重要作用。