[Cardiac manifestations in Fabry disease].
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.


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.


CONCLUSIONS
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.
Lappegård
K T
KT
Medisinsk avdeling Nordland Sentralsykehus 8092 Bodø. lappegard@nss.nl.no
Aass
H
H
D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000209:etiology; D004452:Echocardiography; D004562:Electrocardiography; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000503:physiopathology; D006331:Heart Diseases / Q000000981:diagnostic imaging / Q000209:etiology* / Q000503:physiopathology; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000209:etiology; D008297:Male; D008944:Mitral Valve Insufficiency / Q000209:etiology