Cardiovascular Morbidity and Mortality in Fabry Disease

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 males compared with females (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.