Arrhythmias and clinical outcomes in Fabry disease with cardiac and renal involvement

作者：Xiang Yin, Zhuonan Song, Xiangjie Sun, Xiaogang Guo, Tianxin Ye, Fangcong Yu, Hui Yan, Xiaosheng Hu · 发表于：Orphanet Journal of Rare Diseases · 年份：2025 · DOI：10.1186/s13023-025-04079-3 · 研究领域：Lysosomal Storage Disorders Research、Glycogen Storage Diseases and Myoclonus、Whipple's Disease and Interleukins

Both cardiomyopathy and nephropathy represent hallmark manifestations of Fabry disease (FD), evidence remains limited regarding cardiovascular risk stratification based on organ-specific involvement patterns. In this retrospective cohort study of FD patients from the First Affiliated Hospital of Zhejiang University, we evaluated associations between cardiac/renal involvement and major cardiovascular events, including: (1) cardiovascular mortality, (2) new-onset severe heart failure, (3) incident atrial fibrillation, and (4) significant arrhythmia requiring device implantation. Patients were stratified into four phenotypic groups: non-affected (24.1%, n = 20), cardiac-only (24.1%, n = 20), renal-only (18.1%, n = 15), and co-affected (33.7%, n = 28). During a median follow-up of 39 months, 36.1% (n = 30) reached the primary endpoint. The cohort demonstrated substantial arrhythmia burden with significant intergroup differences (p = 0.028). Univariate Cox analysis revealed both left ventricular maximum wall thickness (LVMWT; HR: 1.176, 95% CI: 1.050–1.336, p = 0.010) and estimated glomerular filtration rate (eGFR; HR: 0.978, 95% CI: 0.962–0.992, p < 0.001) as continuous variables were significantly associated with outcomes. However, multivariate analysis confirmed only LVMWT remained an independent predictor (p = 0.010), while eGFR lost its significance (p = 0.100). These findings demonstrate that organ involvement patterns exert a critical influence on cardiovascular prognosis i...