Multiple Cardiac Rhabdomyomas as a Sole Symptom of Tuberous Sclerosis Complex

Abstract

We report a child in whom multiple cardiac rhabdomyomas were identified on routine fetal ultrasonography. Molecular genetic studies identified the TSC2 gene missense mutation (E36; 4672 G>A, 1558 E>K TSC2). Both general and neurodevelopment of the patient have been normal. When last examined at age 6 years, he had no skin manifestations of tuberous sclerosis complex. Computed tomography of the brain revealed two periventricular calcifications consistent with the molecular diagnosis. This is the first report of molecularly confirmed tuberous sclerosis complex in a child with multiple cardiac rhabdomyomas and no other clinical manifestations of the disease. We propose that all cases of multiple cardiac rhabdomyomas in an infant be given a tentative diagnosis of tuberous sclerosis complex. (J Child Neurol 2005;20:988—989).

Get full access to this article

View all access options for this article.

References

Jóźwiak S. , Kawalec W. , D⋖uźewska J. , et al: Cardiac tumors in tuberous sclerosis: Their incidence and course. Eur J Pediatr 1994;153:155—157.

Jóźwiak S. , Schwartz RA , Krysicka Janniger C. , Bielicka-Cymerman J. : Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients . J Child Neurol 2000;15:652—659.

Roach ES , Gomez MR , Northrup H. : Tuberous Sclerosis Complex Consensus Conference: Revised clinical diagnostic criteria. J Child Neurol 1998;13:624—628.

Bader R. , Chitayat D. , Kelly E. , et al: Fetal rhabdomyoma: Prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex. J Pediatr 2003;143:620—624.

Tworetzky W. , McElhinney DB , Margossian R. , et al: Association between cardiac tumors and tuberous sclerosis in the fetus and neonate. Am J Cardiol 2003;92:487—489.

Harding CO , Pagon RA : Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma. Am J Med Genet 1990;37:443—446.

Bosi G. , Lintermans JP , Pellegrino PA , et al: The natural history of cardiac rhabdomyoma with and without tuberous sclerosis . Acta Paediatr 1996;85:928—931.

Das BB , Sharma J. : Cardiac rhabdomyoma and tuberous sclerosis: Prenatal diagnosis and follow up. Indian J Pediatr 2003;70:87—89.

Pipitone S. , Mongiovi M. , Grillo R. , et al: Cardiac rhabdomyoma in intrauterine life: Clinical features and natural history. A case series and review of published reports. Ital Heart J 2002;3:48—52.

10.

Roach ES , DiMario FJ , Kandt RS , Northrup H. : Tuberous Sclerosis Complex Consensus Conference: Recommendations for diagnostic evaluation. J Child Neurol 1999;14:401—407.