Skip to main content
Archives of Disease in Childhood logoLink to Archives of Disease in Childhood
. 1993 Mar;68(3):367–370. doi: 10.1136/adc.68.3.367

Cardiac rhabdomyomas and their association with tuberous sclerosis.

D W Webb 1, R D Thomas 1, J P Osborne 1
PMCID: PMC1793857  PMID: 8466239

Abstract

A search for children presenting with signs or symptoms of cardiac rhabdomyomas was made through members of the paediatric section of the British Cardiac Society in order to establish their birth incidence, presenting features, clinical course, and the frequency of a concurrent diagnosis of tuberous sclerosis. Fifteen children were identified and 12 had tuberous sclerosis (80%). Heart failure was the presentation in six, five of whom died; six presented because of a murmur and three because of arrhythmias. The prevalence of echocardiographic evidence of cardiac rhabdomyomas in a population of patients with tuberous sclerosis was established. Twenty individuals had echocardiography and eight had echodensities consistent with cardiac rhabdomyomas. It is concluded that the minimum birth incidence for children presenting because of the effects of cardiac rhabdomyomas is 1/326,000 and a minimum of 80% have tuberous sclerosis. In a population of patients with tuberous sclerosis a minimum of 60% under 18 years have cardiac rhabdomyomas.

Full text

PDF

Images in this article

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Alkalay A. L., Ferry D. A., Lin B., Fink B. W., Pomerance J. J. Spontaneous regression of cardiac rhabdomyoma in tuberous sclerosis. Clin Pediatr (Phila) 1987 Oct;26(10):532–535. doi: 10.1177/000992288702601008. [DOI] [PubMed] [Google Scholar]
  2. Allan L. D., Joseph M. C., Tynan M. Clinical value of echocardiographic colour image processing in two cases of primary cardiac tumour. Br Heart J. 1983 Feb;49(2):154–156. doi: 10.1136/hrt.49.2.154. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Bass J. L., Breningstall G. N., Swaiman K. F. Echocardiographic incidence of cardiac rhabdomyoma in tuberous sclerosis. Am J Cardiol. 1985 May 1;55(11):1379–1382. doi: 10.1016/0002-9149(85)90508-9. [DOI] [PubMed] [Google Scholar]
  4. Chan H. S., Sonley M. J., Moës C. A., Daneman A., Smith C. R., Martin D. J. Primary and secondary tumors of childhood involving the heart, pericardium, and great vessels. A report of 75 cases and review of the literature. Cancer. 1985 Aug 15;56(4):825–836. doi: 10.1002/1097-0142(19850815)56:4<825::aid-cncr2820560421>3.0.co;2-7. [DOI] [PubMed] [Google Scholar]
  5. Gibbs J. L. The heart and tuberous sclerosis. An echocardiographic and electrocardiographic study. Br Heart J. 1985 Dec;54(6):596–599. doi: 10.1136/hrt.54.6.596. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Harding C. O., Pagon R. A. Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma. Am J Med Genet. 1990 Dec;37(4):443–446. doi: 10.1002/ajmg.1320370402. [DOI] [PubMed] [Google Scholar]
  7. Manetti A., De Simone L., Favilli S., Lini M., Buti D., Borgheresi S., Dolara A. Studio ecocardiografico del rabdomioma cardiaco nella sclerosi tuberosa. G Ital Cardiol. 1989 Apr;19(4):319–323. [PubMed] [Google Scholar]
  8. McAllister H. A., Jr Primary tumors of the heart and pericardium. Pathol Annu. 1979;14(Pt 2):325–355. [PubMed] [Google Scholar]
  9. Osborne J. P. Diagnosis of tuberous sclerosis. Arch Dis Child. 1988 Dec;63(12):1423–1425. doi: 10.1136/adc.63.12.1423. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Osborne J. P., Fryer A., Webb D. Epidemiology of tuberous sclerosis. Ann N Y Acad Sci. 1991;615:125–127. doi: 10.1111/j.1749-6632.1991.tb37754.x. [DOI] [PubMed] [Google Scholar]
  11. Simcha A., Wells B. G., Tynan M. J., Waterston D. J. Primary cardiac tumours in childhood. Arch Dis Child. 1971 Aug;46(248):508–514. doi: 10.1136/adc.46.248.508. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Smith H. C., Watson G. H., Patel R. G., Super M. Cardiac rhabdomyomata in tuberous sclerosis: their course and diagnostic value. Arch Dis Child. 1989 Feb;64(2):196–200. doi: 10.1136/adc.64.2.196. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Smythe J. F., Dyck J. D., Smallhorn J. F., Freedom R. M. Natural history of cardiac rhabdomyoma in infancy and childhood. Am J Cardiol. 1990 Nov 15;66(17):1247–1249. doi: 10.1016/0002-9149(90)91109-j. [DOI] [PubMed] [Google Scholar]
  14. Thomson N., Read K. Multiple rhabdomyoma in a neonate: case report. Radiography. 1987 Mar-Apr;53(608):75–77. [PubMed] [Google Scholar]
  15. Van der Hauwaert L. G. Cardiac tumours in infancy and childhood. Br Heart J. 1971 Jan;33(1):125–132. doi: 10.1136/hrt.33.1.125. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Wallace G., Smith H. C., Watson G. H., Rimmer S., D'Souza S. W. Tuberous sclerosis presenting with fetal and neonatal cardiac tumours. Arch Dis Child. 1990 Apr;65(4 Spec No):377–379. doi: 10.1136/adc.65.4_spec_no.377. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Webb D. W., Fryer A. E., Osborne J. P. On the incidence of fits and mental retardation in tuberous sclerosis. J Med Genet. 1991 Jun;28(6):395–397. doi: 10.1136/jmg.28.6.395. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Webb D. W., Osborne J. P. Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma. Am J Med Genet. 1992 Mar 1;42(5):754–755. doi: 10.1002/ajmg.1320420527. [DOI] [PubMed] [Google Scholar]
  19. Webb D. W., Thomas R. D., Osborne J. P. Echocardiography and genetic counselling in tuberous sclerosis. J Med Genet. 1992 Jul;29(7):487–489. [PMC free article] [PubMed] [Google Scholar]

Articles from Archives of Disease in Childhood are provided here courtesy of BMJ Publishing Group

RESOURCES