Cardiac Involvement in Fabry Disease

Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by deficient α-galactosidase A activity that leads to an accumulation of globotriasylceramide (Gb3) in affected tissues, including the heart. Cardiovascular involvement usually manifests as left ventricular hypertrophy, myocardial fibrosis, heart failure, and arrhythmias, which limit quality life represent most common causes death. Following introduction enzyme replacement therapy, early diagnosis treatment have become essential slow progression prevent major cardiac complications. Recent advances understanding FD pathophysiology suggest addition Gb3 accumulation, other mechanisms contribute development cardiomyopathy. Progress imaging techniques improved staging FD-related disease, suggesting central role for inflammation setting stage further research. In addition, with recent approval oral chaperone therapy new developments, FD-specific landscape rapidly evolving.