Klinefelter syndrome with fabry disease - a case of nondisjunction of the x-chromosome with sex-linked recessive mutation

Victoria J. Sadick, Michael J. Fietz, Michel C. Tchan, Pramesh Kovoor, Liza Thomas, Norman Sadick

    Research output: Contribution to journalArticlepeer-review

    3 Citations (Scopus)

    Abstract

    A 52 year-old male with Klinefelter syndrome presented with chest tightness and rapid atrial fibrillation with hypotension. His echocardiogram demonstrated symmetrical left ventricular hypertrophy with minimal diastolic dysfunction. Subsequent investigations confirmed the diagnosis of Fabry cardiomyopathy. This is the first reported case of Klinefelter syndrome with homozygous sex-linked recessive mutation presenting primarily with cardiac manifestation.
    Original languageEnglish
    Pages (from-to)1149-1152
    Number of pages4
    JournalHeart, Lung and Circulation
    Volume23
    Issue number12
    DOIs
    Publication statusPublished - 2014

    Keywords

    • cardiomyopathy
    • chromosome
    • recessive

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