Tuberous Sclerosis and Cardiac Rhabdomyomas: A Case Report and Review of the Literature

Congenital Heart Disease

Volumn 6, Issue 2, 2011, Pages 183-187

  Madueme, Peace ^a   Hinton, Robert ^a  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Cardiac Tumor; Clinical Genetic Testing; Genetics; Therapy

Indexed keywords

HAMARTIN; TUBERIN;

ARTICLE; ASTROCYTOMA; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DIFFERENTIAL DIAGNOSIS; FIBROMA; FOLLOW UP; GENETIC SCREENING; HAMARTOMA; HEART RHABDOMYOMA; HEART TUMOR; HUMAN; INFANT; MALE; MUTATIONAL ANALYSIS; MYXOMA; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RHABDOMYOMA; SEIZURE; TERATOMA; TUBEROUS SCLEROSIS;

CODON, NONSENSE; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; GENETIC TESTING; HEART NEOPLASMS; HUMANS; INFANT; MALE; RHABDOMYOMA; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 79952995828     PISSN: 1747079X     EISSN: 17470803     Source Type: Journal    
DOI: 10.1111/j.1747-0803.2011.00502.x     Document Type: Article

References (13)

1. Beghetti M, Gow RM, Haney I, Mawson J, Williams WG, Freedom RM. Pediatric primary benign cardiac tumors: a 15-year review. Am Heart J. 1997;134:1107-1114.
2. Burke A, Virmani R. Pediatric heart tumors. Cardiovasc Pathol. 2008;17:193-198.
3. Jozwiak S, Kotulska K, Kasprzyk-Obara J, etal. Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex. Pediatrics. 2006;118:e1146-e1151.
4. Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol. 1998;13:624-628.
5. Crawford DC, Garrett C, Tynan M, Neville BG, Allan LD. Cardiac rhabdomyomata as a marker for the antenatal detection of tuberous sclerosis. J Med Genet. 1983;20:303-304.
6. DiMario FJ, Jr, Diana D, Leopold H, Chameides L. Evolution of cardiac rhabdomyoma in tuberous sclerosis complex. Clin Pediatr (Phila). 1996;35:615-619.
7. The European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell. 1993;75:1305-1315.
8. van Slegtenhorst M, de Hoogt R, Hermans C, etal. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science. 1997;277:805-808.
9. Kotulska K, Larysz-Brysz M, Grajkowska W, etal. Cardiac rhabdomyomas in tuberous sclerosis complex show apoptosis regulation and mTOR pathway abnormalities. Pediatr Dev Pathol. 2009;12:89-95.
10. Franz DN, Leonard J, Tudor C, etal. Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Ann Neurol. 2006;59:490-498.
11. Case CL, Gillette PC, Crawford FA. Cardiac rhabdomyomas causing supraventricular and lethal ventricular arrhythmias in an infant. Am Heart J. 1991;122:1484-1486.
12. Cina SJ, Smialek JE, Burke AP, Virmani R, Hutchins GM. Primary cardiac tumors causing sudden death: a review of the literature. Am J Forensic Med Pathol. 1996;17:271-281.
13. Myers KA, Wong KK, Tipple M, Sanatani S. Benign cardiac tumours, malignant arrhythmias. Can J Cardiol. 2010;26:e58-e61.