FABRY CARDIOMYOPATHY IN THE FEMALE CONFIRMED BY ENDOMYOCARDIAL BIOPSY

  • 1 January 1981
    • journal article
    • research article
    • Vol. 56  (10) , 623-628
Abstract
A 58-yr-old woman with cardiac enlargement and heart failure was a member of a family with Fabry disease. In this patient, endomyocardial biopsy permitted microscopic examination of the myocardium which revealed cellular abnormalities characteristic of Fabry cardiomyopathy. Unfavorable lyonization of the mutant-bearing X chromosome accounted for the expression of this disorder in specific organs of a female patient.

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