Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma

Am J Med Genet. 1990 Dec;37(4):443-6. doi: 10.1002/ajmg.1320370402.


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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Female
  • Fetal Diseases / diagnosis
  • Heart Neoplasms / complications*
  • Heart Neoplasms / epidemiology
  • Humans
  • Incidence
  • Infant
  • Infant, Newborn
  • Male
  • Pregnancy
  • Prenatal Diagnosis
  • Rhabdomyoma / complications*
  • Rhabdomyoma / epidemiology
  • Tuberous Sclerosis / complications*