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Am J Med Genet. 1990 Dec;37(4):443-6.

Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma.

Author information

1
Department of Pediatrics, University of Washington School of Medicine, Seattle.

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.

PMID:
2260584
DOI:
10.1002/ajmg.1320370402
[Indexed for MEDLINE]

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