Year: 2026
Type: article
Study design: Observational Study
Abstract: BACKGROUND: Cardiac involvement is the main determinant of adverse outcomes in Fabry disease. The study aimed to investigate cardiovascular outcomes in patients with Fabry disease. METHODS: This was a multicenter, retrospective, longitudinal study of consecutively referred adult patients with Fabry disease. The primary end point was the occurrence of major adverse cardiovascular events defined as a composite of cardiovascular death, major arrhythmic events, bradyarrhythmias requiring pacemaker implantation, and stroke. RESULTS: A total of 680 patients (age, 42.3±15.9 years; 41.0% male; 68.7% on disease-specific therapy) were included. During a median follow-up of 7.1 (interquartile range, 3.9–11.6) years, 92 patients (13.5%) experienced a major adverse cardiovascular event. At 10 years, freedom from major adverse cardiovascular event was 85.1% (95% CI, 81.3–88.2) and was lower in men compared with women (76.1% [95% CI, 68.9–81.9] versus 91.3% [95% CI, 87.0–94.2]; log-rank χ 2 =26.9; P <0.001). On multivariable analysis, age (hazard ratio, 1.04 [95% CI, 1.01–1.06] per 1 year; P <0.001), estimated glomerular filtration rate (hazard ratio, 0.99 [95% CI, 0.98–0.99] per 1 mL/min per 1.73 m 2 ; P <0.001), QRS interval (hazard ratio, 1.02 [95% CI, 1.01–1.03] per 1 ms; P =0.002), and left ventricular mass index (hazard ratio, 1.01 [95% CI, 1.00–1.01] per 1 g/m 2 ; P =0.032) were independent predictors of major adverse cardiovascular events during follow-up. CONCLUSIONS: This study shows that the prevention and treatment of cardiovascular disease remain an unmet need for patients with Fabry disease.
Authors: Emanuele Monda, Athanasios Bakalakos, Annamaria Del Franco, Rosa Lillo, Maria Chiara Meucci, Letizia Spinelli, Vanda Parisi, Maria Alessandra Schiavo, Marta Rubino, Francesca Graziani, Francesco Cappelli, Maurizio Pieroni, Antonio Pisani, Guido Iaccarino, Robin Lachmann, Elaine Murphy, Uma Ramaswami, Derralynn Hughes, Elena Biagini, Giuseppe Limongelli, Perry Mark Elliott
Institutions: University of Campania "Luigi Vanvitelli", Ospedale Monaldi, ERN GUARD-Heart, University College London, University of Florence, Agostino Gemelli University Polyclinic, Istituti di Ricovero e Cura a Carattere Scientifico, Federico II University Hospital, University of Naples Federico II, IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola, National Hospital for Neurology and Neurosurgery, Royal Free London NHS Foundation Trust
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W7127956698