[Complete atrioventricular block disclosing Fabry's disease].
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.
Elhadad
S
S
Service de cardiologie et urgences cardiovasculaires, center hospitalier de Lagny-Marne-la-Vailée.
Melet
V
V
Domniez
T
T
Cosson
S
S
Chollet
D
D
Vedel
J
J
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
D000519:alpha-Galactosidase
Bloc auriculo-ventriculaire complet révélateur de maladie de Fabry.