Cardiovascular Morbidity and Mortality in Fabry Disease

Area of Science:

• Cardiology
• Genetics
• Internal Medicine

Background:

• Fabry disease is a rare genetic disorder with cardiac involvement being a primary driver of poor prognosis.
• Understanding cardiovascular outcomes is essential for managing patients with Fabry disease.

Purpose of the Study:

• To investigate the incidence and predictors of major adverse cardiovascular events (MACE) in adult patients with Fabry disease.
• To evaluate cardiovascular outcomes in a large, multicenter cohort of Fabry disease patients.

Main Methods:

• A multicenter, retrospective, longitudinal study included 680 adult patients with Fabry disease.
• The primary endpoint was the composite of cardiovascular death, major arrhythmic events, bradyarrhythmias requiring pacemaker implantation, and stroke.
• Median follow-up was 7.1 years, with multivariable analysis identifying predictors of MACE.

Main Results:

• Over 13% of patients experienced a major adverse cardiovascular event during follow-up.
• Ten-year freedom from MACE was 85.1%, significantly lower in males (76.1%) compared to females (91.3%).
• Independent predictors of MACE included older age, lower estimated glomerular filtration rate, longer QRS interval, and higher left ventricular mass index.

Conclusions:

• Cardiovascular disease remains a significant threat in Fabry disease, necessitating improved prevention and treatment strategies.
• The findings highlight the need for proactive cardiovascular monitoring and intervention in this patient population.