Department of Cardiovascular Medicine, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Department of Cardiovascular Medicine, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Department of Cardiovascular and Pneumological Sciences, Catholic University of the Sacred Heart, Rome, Italy.
J Am Coll Cardiol. 2023 Oct 10;82(15):1524-1534. doi: 10.1016/j.jacc.2023.07.026.
There is limited evidence on the risk stratification of cardiovascular outcomes in patients with Fabry disease (FD).
This study sought to classify FD patients into disease stages, based on the extent of the cardiac damage evaluated by echocardiography, and to assess their prognostic impact in a multicenter cohort.
Patients with FD from 5 Italian referral centers were categorized into 4 stages: stage 0, no cardiac involvement; stage 1, left ventricular (LV) hypertrophy (LV maximal wall thickness >12 mm); stage 2, left atrium (LA) enlargement (LA volume index >34 mL/m); stage 3, ventricular impairment (LV ejection fraction <50% or E/e' ≥15 or TAPSE <17 mm). The study endpoint was the composite of all-cause death, hospitalization for heart failure, new-onset atrial fibrillation, major bradyarrhythmias or tachyarrhythmias, and ischemic stroke.
A total of 314 patients were included. Among them, 174 (56%) were classified as stage 0, 41 (13%) as stage 1, 57 (18%) as stage 2 and 42 (13%) as stage 3. A progressive increase in the composite event rate at 8 years was observed with worsening stages of cardiac damage (log-rank P < 0.001). On multivariable Cox regression analysis, the staging was independently associated with the risk of cardiovascular events (HR: 2.086 per 1-stage increase; 95% CI: 1.487-2.927; P < 0.001). Notably, cardiac staging demonstrated a stronger and additive prognostic value, as compared with the degree of LV hypertrophy.
In FD patients, a novel staging classification of cardiac damage, evaluated by echocardiography, is strongly associated with cardiovascular outcomes and may be helpful to refine risk stratification.
法布瑞氏病（FD）患者心血管结局的风险分层证据有限。
本研究旨在根据超声心动图评估的心脏损伤程度，将 FD 患者分为疾病阶段，并在多中心队列中评估其预后影响。
来自意大利 5 家转诊中心的 FD 患者分为 4 个阶段：0 期，无心脏受累；1 期，左心室（LV）肥厚（LV 最大壁厚度>12mm）；2 期，左心房（LA）扩大（LA 容积指数>34mL/m）；3 期，心室功能障碍（LV 射血分数<50%或 E/e'≥15 或 TAPSE<17mm）。研究终点是全因死亡、心力衰竭住院、新发心房颤动、严重缓心律失常或快速心律失常以及缺血性卒中的复合终点。
共纳入 314 例患者。其中，174 例（56%）为 0 期，41 例（13%）为 1 期，57 例（18%）为 2 期，42 例（13%）为 3 期。随着心脏损伤程度的恶化，复合事件发生率在 8 年内呈逐渐增加趋势（对数秩检验 P<0.001）。多变量 Cox 回归分析显示，分期与心血管事件风险独立相关（HR：每增加 1 期增加 2.086；95%CI：1.487-2.927；P<0.001）。值得注意的是，与 LV 肥厚程度相比，心脏分期具有更强的、附加的预后价值。
在 FD 患者中，通过超声心动图评估的心脏损伤的新型分期分类与心血管结局密切相关，可能有助于细化风险分层。
