A monthly publication of the Brazilian Society of Cardiology and considered the main channel for the promotion of Brazilian cardiovascular research.
ISSN 0066-782X
eISSN 1678-4170
Fabry disease (FD) is a rare X-linked hereditary lysosomal storage disease caused by deficient activity of the enzyme alpha-galactosidase A that leads to the accumulation of globotriasylceramide (Gb3) in affected tissues, including the heart, brain, and kidneys. In FD, cardiac damage begins early and progresses subclinically before the appearance of symptoms and generally manifests as left ventricular hypertrophy simulating hypertrophic cardiomyopathy (HCM). Recent studies have demonstrated a prevalence of FD of up to 5% in patients whose initial diagnosis was […]
Keywords: Cardiomyopathy, Hypertrophic/diagnostic, imaging; Enzyme Replacement Therapy; Fabry Disease/complications; Hypertrophy, Left Ventricular; Infant, Newborn, Diseases; Left Ventricular Hypertrophy; Rare Diseases