title: [Complete atrioventricular block disclosing Fabry's disease].
abstract: 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.
authors.affiliation: Service de cardiologie et urgences cardiovasculaires, center hospitalier de Lagny-Marne-la-Vailée.
authors.forename: S
authors.initials: S
authors.lastname: Elhadad
authors.forename: V
authors.initials: V
authors.lastname: Melet
authors.forename: T
authors.initials: T
authors.lastname: Domniez
authors.forename: S
authors.initials: S
authors.lastname: Cosson
authors.forename: D
authors.initials: D
authors.lastname: Chollet
authors.forename: J
authors.initials: J
authors.lastname: Vedel
mesh_terms: D002318:Cardiovascular Diseases / Q000209:etiology; D003937:Diagnosis, Differential; D004562:Electrocardiography; D000795:Fabry Disease / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006327:Heart Block / Q000209:etiology* / Q000503:physiopathology; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D013575:Syncope / Q000209:etiology* / Q000503:physiopathology; D000519:alpha-Galactosidase / Q000032:analysis
chemical_list: D000519:alpha-Galactosidase
vernacular_title: Bloc auriculo-ventriculaire complet révélateur de maladie de Fabry.