Department of Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands; Netherlands Heart Institute, Utrecht, the Netherlands; Department of Biomedical Engineering, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University, Maastricht, the Netherlands; ProCardio Center for Innovation, Department of Cardiology, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
Department of Biomedical Engineering, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University, Maastricht, the Netherlands.
J Am Coll Cardiol. 2023 Aug 29;82(9):785-797. doi: 10.1016/j.jacc.2023.05.065.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by fibrofatty replacement of primarily the right ventricular myocardium, a substrate for life-threatening ventricular arrhythmias (VAs). Repeated cardiac imaging of at-risk relatives is important for early disease detection. However, it is not known whether screening should be age-tailored.
The goal of this study was to assess the need for age-tailoring of follow-up protocols in early ARVC by evaluating myocardial disease progression in different age groups.
We divided patients with early-stage ARVC and genotype-positive relatives without overt structural disease and VA at first evaluation into 3 groups: age <30 years, 30 to 50 years, and ≥50 years. Longitudinal biventricular deformation characteristics were used to monitor disease progression. To link deformation abnormalities to underlying myocardial disease substrates, Digital Twins were created using an imaging-based computational modeling framework.
We included 313 echocardiographic assessments from 82 subjects (57% female, age 39 ± 17 years, 10% probands) during 6.7 ± 3.3 years of follow-up. Left ventricular global longitudinal strain slightly deteriorated similarly in all age groups (0.1%-point per year [95% CI: 0.05-0.15]). Disease progression in all age groups was more pronounced in the right ventricular lateral wall, expressed by worsening in longitudinal strain (0.6%-point per year [95% CI: 0.46-0.70]) and local differences in myocardial contractility, compliance, and activation delay in the Digital Twin. Six patients experienced VA during follow-up.
Disease progression was similar in all age groups, and sustained VA also occurred in patients aged >50 years without overt ARVC phenotype at first evaluation. Unlike recommended by current guidelines, our study suggests that follow-up of ARVC patients and relatives should not stop at older age.
致心律失常性右室心肌病（ARVC）的特征是主要右心室心肌的纤维脂肪替代，这是危及生命的室性心律失常（VA）的基础。对高危亲属进行反复心脏成像对于早期疾病检测很重要。但是，尚不清楚是否应根据年龄调整筛查。
本研究的目的是通过评估不同年龄组心肌疾病的进展来评估早期 ARVC 中是否需要根据年龄调整随访方案。
我们将早期 ARVC 患者和基因型阳性的无明显结构性疾病和首次评估时无 VA 的亲属分为 3 组：年龄<30 岁、30-50 岁和≥50 岁。使用双心室变形特征来监测疾病进展。为了将变形异常与潜在的心肌疾病底物联系起来，使用基于成像的计算建模框架创建了数字孪生体。
我们纳入了 82 名受试者的 313 次超声心动图评估，随访时间为 6.7±3.3 年（57%为女性，年龄 39±17 岁，10%为先证者）。左心室整体纵向应变在所有年龄组均略有恶化（每年 0.1%-点[95%CI：0.05-0.15]）。所有年龄组的右心室外侧壁的疾病进展更为明显，表现为纵向应变恶化（每年 0.6%-点[95%CI：0.46-0.70]）以及数字孪生中心肌收缩力、顺应性和激活延迟的局部差异。6 名患者在随访期间发生 VA。
所有年龄组的疾病进展相似，首次评估时无明显 ARVC 表型的>50 岁患者也持续发生 VA。与现行指南建议不同，我们的研究表明，ARVC 患者和亲属的随访不应在老年时停止。
