Document Detail

Tuberous sclerosis and cardiac rhabdomyomas: a case report and review of the literature.
MedLine Citation:
PMID:  21418539     Owner:  NLM     Status:  MEDLINE    
Tuberous sclerosis (TS) is an autosomal dominant disorder characterized by benign hamartomas in multiple organ systems, including rhabdomyomas in the heart and subependymal giant cell astrocytomas in the brain. Mutations in the hamartin (TSC1) and tuberin (TSC2) genes have been identified as causative. We report an infant who presented with seizures and cardiac rhabdomyomas and whose diagnosis of TS was confirmed by a TSC2 C1605T nonsense mutation. In addition, we review the literature of cardiac tumors. Despite the typical natural history of tumor regression, lifelong follow-up is necessary for the appropriate management of these patients. Elucidation of the genetics and pathogenesis of cardiac tumors, as illustrated by the TS rhabdomyoma described in this case, may lead to novel therapies.
Peace Madueme; Robert Hinton
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Publication Detail:
Type:  Case Reports; Journal Article; Review     Date:  2011-03-21
Journal Detail:
Title:  Congenital heart disease     Volume:  6     ISSN:  1747-0803     ISO Abbreviation:  Congenit Heart Dis     Publication Date:    2011 Mar-Apr
Date Detail:
Created Date:  2011-03-23     Completed Date:  2011-07-18     Revised Date:  2013-08-23    
Medline Journal Info:
Nlm Unique ID:  101256510     Medline TA:  Congenit Heart Dis     Country:  United States    
Other Details:
Languages:  eng     Pagination:  183-7     Citation Subset:  IM    
Copyright Information:
© 2011 Copyright the Authors. Congenital Heart Disease © 2011 Wiley Periodicals, Inc.
The Heart Institute, Cincinnati Children's Hospital Medical Centerl, 3333 Burnet Avenue, Cincinnati, OH 45229-3039, USA.
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MeSH Terms
Codon, Nonsense*
DNA Mutational Analysis
Disease Progression
Genetic Testing / methods
Heart Neoplasms / diagnosis,  genetics*,  therapy
Rhabdomyoma / diagnosis,  genetics*,  therapy
Tuberous Sclerosis / diagnosis,  genetics*,  therapy
Tumor Suppressor Proteins / genetics*
Grant Support
Reg. No./Substance:
0/Codon, Nonsense; 0/Tumor Suppressor Proteins; 4JG2LF96VF/tuberous sclerosis complex 2 protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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