First-Degree Atrioventricular Block and Restrictive Physiology as Cardiac Manifestations of Fabry's Disease

Arnon Blum, MD, Haim Ashkenazi, MD, Igor Haromankov, MD, Khalid Khazim, MD, Julia Sheiman, MD

Disclosures

South Med J. 2003;96(2) 

In This Article

Abstract and Introduction

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.

Fabry's disease is an X-linked disorder of glycosphingolipid catabolism that results from the defective activity of glycosphingolipid, mainly ceramide trihexoside, in the vascular smooth muscle, myocardium, cells of sympathetic central nervous system, and epithelial cells of renal glomeruli. We present a case of Fabry's disease in which the patient was admitted because of left leg cellulitis and was found to have an unusual electrocardiographic and echocardiographic pattern.

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