Engelsk titel: Cardiac manifestations in Fabry disease
Läs online
Författare:
Lappegård KT
;
Aass H
Språk: Nor
Antal referenser: 21
Dokumenttyp:
Fallbeskrivning
UI-nummer: 00091603
Sammanfattning
BACKGROUND : Fabry's disease is an X-linked inborn error of metabolism. The patients lack or have very low activity of the enzyme alpha-galactosidase A. This results in deposition of sphingolipids in endothelial cells and vascular smooth muscle cells; thus the disease can affect nearly every organ in the body. Renal failure is the most common cause of death, but cardiac involvement is frequent.
MATERIAL AND METHODS : We describe two brothers with Fabry's disease and provide a review of the literature in the field.
RESULTS : Both patients had extensive electro- and echocardiographic findings.
INTERPRETATION : Fabry's disease should be suspected in men with unexplained electro- and/or echocardiographic signs of left ventricular hypertrophy and a short PQ interval in the ECG.