CASE REPORTS
JOURNAL ARTICLE
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[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.

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.

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