FABRYS-DISEASE PRESENTING WITH COMPLETE A TRIOVENTRICULAR-BLOCK

Fabry's disease is a hereditary sex-linked sphinglopidosis characteris ed by abnormal cellular lipid overload in most organs due to deficienc ies in enzymes implicated in the catabolism of certain neutral glycoli pids. There are two main clinical forms; cardiovascular manifestations usually congestive cardiac failure, and renal manifestations progress ing to renal failure and death due to uraemic coma. The authors report a case presenting with juvenile, symptomatic complete infrahisian atr ioventricular block. They describe the different cardiovascular compli cations of Fabry's disease from a review of the medial literature.