Department of Cardiovascular and Thoracic Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, Rome, 00168, Italy.
Università Cattolica del Sacro Cuore, Rome, Italy.
ESC Heart Fail. 2020 Aug;7(4):1605-1614. doi: 10.1002/ehf2.12712. Epub 2020 May 20.
Right ventricular hypertrophy (RVH) is a common finding in Anderson-Fabry disease (AFD), but the prognostic role of right ventricular (RV) involvement has never been assessed. The aim of our study was to evaluate the prognostic significance of RVH and RV systolic function in AFD.
Forty-five AFD patients (56% male patients) with extensive baseline evaluation, including assessment of RVH and RV systolic function, were followed-up for an average of 51.2 ± 11.4 months. RV systolic function was assessed by standard and tissue Doppler echocardiography. Cardiovascular events were defined as new-onset atrial fibrillation (AF), sustained ventricular arrhythmias, heart failure, or pacemaker/implantable cardioverter defibrillator implantation; renal events were defined as progression to dialysis and/or renal transplantation or significant worsening of glomerular filtration rate; and cerebrovascular events were defined as transient ischaemic attack or stroke. Fourteen patients (31.1%) presented RVH, while RV systolic function was normal in all cases. During the follow-up period, 13 patients (28.8%, 11 male) experienced 18 major events, including two deaths. Cardiovascular events occurred in eight patients (17.7%). The most common event was pacemaker/implantable cardioverter defibrillator implantation (six patients, 13.3%), followed by AF (three cases, 6.6%). Only one case of worsening New York Heart Association class (from II to III and IV) was observed. Ischaemic stroke occurred in three cases (6.6%). Renal events were recorded in three patients (6.6%). At univariate analysis, several variables were associated with the occurrence of events, including RVH (HR: 7.09, 95% CI: 2.17 to 23.14, P = 0.001) and indexes of RV systolic function (tricuspid annular plane systolic excursion HR: 0.77, 95% CI: 0.62 to 0.96, P = 0.02; and RV tissue Doppler systolic velocity HR: 0.76, 95% CI: 0.61 to 0.93, P = 0.01). At multivariate analysis, proteinuria (HR:8.3, 95% CI: 2.88 to 23.87, P < 0.001) and left ventricular mass index (HR: 1.02, 95% CI: 1.00 to 1.03, P = 0.03) emerged as the only independent predictors of outcome.
RVH and RV systolic function show significant association with clinical events in AFD, but only proteinuria and left ventricular mass index emerged as independent predictors of outcome. Our findings suggest that RV involvement does not influence prognosis in AFD and confirm that renal involvement and left ventricular hypertrophy are the main determinant of major cardiac and non-cardiac events.
右心室肥厚（RVH）是安德森-法布里病（AFD）的常见表现，但 RV 受累的预后作用从未被评估过。本研究的目的是评估 AFD 中 RVH 和 RV 收缩功能的预后意义。
45 名 AFD 患者（56%为男性）接受了广泛的基线评估，包括 RVH 和 RV 收缩功能的评估，平均随访 51.2±11.4 个月。RV 收缩功能通过标准和组织多普勒超声心动图进行评估。心血管事件定义为新发心房颤动（AF）、持续性室性心律失常、心力衰竭或起搏器/植入式心律转复除颤器植入；肾脏事件定义为进展为透析和/或肾移植或肾小球滤过率显著恶化；脑血管事件定义为短暂性脑缺血发作或中风。14 名患者（31.1%）存在 RVH，而所有患者的 RV 收缩功能均正常。在随访期间，13 名患者（28.8%，11 名男性）经历了 18 次重大事件，包括 2 例死亡。心血管事件发生在 8 名患者（17.7%）中。最常见的事件是起搏器/植入式心律转复除颤器植入（6 例，13.3%），其次是 AF（3 例，6.6%）。仅观察到一例纽约心脏协会分级恶化（从 II 级到 III 级和 IV 级）。3 例发生缺血性中风（6.6%）。3 名患者出现肾脏事件（6.6%）。单因素分析显示，一些变量与事件发生相关，包括 RVH（HR：7.09，95%CI：2.17 至 23.14，P=0.001）和 RV 收缩功能指标（三尖瓣环平面收缩期位移 HR：0.77，95%CI：0.62 至 0.96，P=0.02；和 RV 组织多普勒收缩速度 HR：0.76，95%CI：0.61 至 0.93，P=0.01）。多因素分析显示，蛋白尿（HR：8.3，95%CI：2.88 至 23.87，P<0.001）和左心室质量指数（HR：1.02，95%CI：1.00 至 1.03，P=0.03）是唯一的预后独立预测因子。
RVH 和 RV 收缩功能与 AFD 中的临床事件有显著相关性，但只有蛋白尿和左心室质量指数是预后的独立预测因子。我们的研究结果表明，RV 受累并不影响 AFD 的预后，并证实肾脏受累和左心室肥厚是主要的心脏和非心脏事件的决定因素。
