25 Cardiac outcomes in Fabry disease Key questions What is already known on this subject? Early cardiac manifestations of FD are left ventricular hypertrophy, fibrosis formation and conduction abnormalities. As the disease progresses, cardiac complications, such as arrhythmias and heart failure, occur in a significant proportion of FD patients, yet others remain asymptomatic throughout long-term follow-up. The evolution of cardiac events and the influence of sex and disease phenotype on this trajectory has not been described previously. What might this study add? This is the first large longitudinal cohort study describing the effect of disease phenotype and sex on occurrence of cardiac events in FD. The event rates of major adverse cardiovascular events (combined endpoint cardiovascular death (CVD), heart failure (HF) hospitalization, sustained ventricular arrhythmias (SVA) and myocardial infarction) were: 11.0 in men with classical FD (95% CI: 6.6-17.3) (event free survival (EVS) 55 years), 4.4 (2.5-7.1) in women with classical FD (EVS 70 years) and 5.9 (2.6-11.6) in men with non-classical FD (EVS 67 years). None of these events occurred in women with non-classical FD. Cardiovascular death was the leading cause of death (75%) to which heart failure contributed most (42%). The overall rate of sustained ventricular arrhythmias was low (14 events in 9 patients (4%)). How might this impact on clinical practice? Cardiac care in FD should be tailored to the sex and disease phenotype of the patient and focus on early detection and treatment of heart failure. 2
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