Fabry disease is an X-linked disorder of glycosphingolipid catabolism that results from deficient activity of the lysosomal enzyme α-galactosidase A in the vascular smooth muscle, the myocardium, the central nervous system, and epithelial cells of the glomeruli, causing accumulation of globotriaosylceramide, the glycosphingolipid substrate for this enzyme. Five years ago we published a case report of a 26-year-old man with Fabry disease who had first-degree atrioventricular (AV) block with right bundle branch block and diastolic dysfunction with a restrictive pattern. In the last few years he was treated with α-galactosidase A. Recently he was readmitted for left leg cellulitis, and surprisingly we found that his electrocardiogram and echocardiogram patterns were improved, with the disappearance of the AV block and diastolic dysfunction.
Blum A, Podovitzky O, Sheiman J, Khasin M. Reversal of First-Degree Atrioventricular Block in Fabry Disease. Arch Intern Med. 2009;169(20):1925-1926. doi:10.1001/archinternmed.2009.334