[Complete atrioventricular block disclosing Fabry's disease]

Arch Mal Coeur Vaiss. 1997 Mar;90(3):393-7.
[Article in French]


Fabry's disease is a hereditary sex-linked sphinglopidosis characterised by abnormal cellular lipid overload in most organs due to deficiencies in enzymes implicated in the catabolism of certain neutral glycolipids. There are two main clinical forms; cardiovascular manifestations usually congestive cardiac failure, and renal manifestations progressing to renal failure and death due to uraemic coma. The authors report a case presenting with juvenile, symptomatic complete infrahisian atrioventricular block. They describe the different cardiovascular complications of Fabry's disease from a review of the medical literature.

Publication types

  • Case Reports
  • English Abstract
  • Review

MeSH terms

  • Cardiovascular Diseases / etiology
  • Diagnosis, Differential
  • Electrocardiography
  • Fabry Disease / complications*
  • Fabry Disease / genetics
  • Fabry Disease / pathology
  • Heart Block / etiology*
  • Heart Block / physiopathology
  • Humans
  • Leukocytes / enzymology
  • Male
  • Middle Aged
  • Syncope / etiology*
  • Syncope / physiopathology
  • alpha-Galactosidase / analysis


  • alpha-Galactosidase