Predicting Cardiovascular Outcomes in Fabry Disease: Identifying High-Risk Markers in the Modern Therapeutic Era

Highlights

Cardiovascular involvement remains the primary driver of morbidity and mortality in patients with Fabry disease, even in the era of disease-specific therapies. A recent multicenter longitudinal study of 680 adult patients identified that 13.5 percent of the population experienced a major adverse cardiovascular event (MACE) over a median follow-up of 7.1 years. Key independent predictors of these events include advancing age, declining estimated glomerular filtration rate (eGFR), prolonged QRS interval, and increased left ventricular mass index (LVMI). These findings underscore the critical need for early risk stratification and more aggressive management of cardiac involvement in this rare lysosomal storage disorder.

Introduction: The Burden of Cardiac Involvement in Fabry Disease