Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma

C. O. Harding, R. A. Pagon

Research output: Contribution to journalArticlepeer-review

153 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)443-446
Number of pages4
JournalAmerican Journal of Medical Genetics
Issue number4
StatePublished - 1990
Externally publishedYes


  • infancy
  • prenatal diagnosis
  • rare benign tumor

ASJC Scopus subject areas

  • Genetics(clinical)


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