title: First-degree atrioventricular block and restrictive physiology as cardiac manifestations of Fabry's disease.
abstract: Fabry's disease is an X-linked disorder of glycosphingolipid catabolism related to the defective activity of glycosphingolipid, mainly ceramide trihexoside, in the vascular smooth muscle, myocardium, cells of the sympathetic central nervous system, and epithelial cells of renal glomeruli. We describe a young man who had Fabry's disease and unusual electrocardiographic and echocardiographic patterns at admission for treatment of left leg cellulitis. Findings included a prolonged PR interval and a right bundle branch block pattern, no echocardiographic signs of septal or hypertrophic cardiomyopathy, and a restrictive physiologic pattern. This pattern of electrocardiographic and echocardiographic characteristics of Fabry's disease has not been reported previously and should be added to the other cardiac manifestations of Fabry's disease.
authors.affiliation: Department of Internal Medicine A, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel. navablum@hotmail.com
authors.forename: Arnon
authors.initials: A
authors.lastname: Blum
authors.forename: Haim
authors.initials: H
authors.lastname: Ashkenazi
authors.forename: Igor
authors.initials: I
authors.lastname: Haromankov
authors.forename: Khalid
authors.initials: K
authors.lastname: Khazim
authors.forename: Julia
authors.initials: J
authors.lastname: Sheiman
mesh_terms: D000328:Adult; D004452:Echocardiography; D004562:Electrocardiography; D000795:Fabry Disease / Q000150:complications* / Q000000981:diagnostic imaging / Q000503:physiopathology*; D006327:Heart Block / Q000000981:diagnostic imaging / Q000209:etiology* / Q000503:physiopathology*; D006801:Humans; D008297:Male