Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma

Authors

  • Cary O. Harding,

    1. Department of Pediatrics, University of Washington School of Medicine
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  • Roberta A. Pagon M.D.

    Corresponding author
    1. Department of Pediatrics, University of Washington School of Medicine
    2. Children's Hospital and Medical Center, Seattle
    • Division of Medical Genetics, Children's Hospital and Medical Center, PO BOX C-5371, Seattle, WA 98105
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Abstract

Cardiac rhabdomyoma, a rare benign tumor often detected in infancy, is frequently associated with tuberous sclerosis. This association is commonly stated to occur in 50% of all cases of cardiac rhabdomyoma. Recently at our institution, the prenatal detection of a cardiac rhabdomyoma in a fetus at no known risk for tuberous sclerosis emphasized the need to determine the frequency of association in order to provide accurate diagnosis and counseling in such situations. After a review of reported cases and review of patients from our institution diagnosed to have cardiac rhabdomyoma, we estimate that 51–86% of cardiac rhabdomyomas are associated with tuberous sclerosis. We present the results of our literature and case review.

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