Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy disease severity and α-galactosidase A activity

摘要

AimsFabry disease is a rare X-linked deficiency of α-galactosidase A (αgal), which causes glycosphingolipid accumulation. This study analysed the cardiovascular manifestations of a cohort of Fabry patients, and sought to define relationships between disease severity, αgal activity, and cardiac abnormalities.