Document Detail

PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome.
MedLine Citation:
PMID:  19795160     Owner:  NLM     Status:  MEDLINE    
Noonan syndrome is an autosomal dominant disease that manifests a wide variety of clinical characteristics. The syndrome is also associated with some cardiac defects. Half of all Noonan syndrome cases are caused by mutations in the PTPN11 gene, but only limited data are available regarding aortic involvement in these cases. No reports exist regarding PTPN11 mutations in association with both aortic dilation and hypertrophic cardiomyopathy. We describe an 8-year-old girl who had Noonan syndrome involving a PTPN11 mutation, hypertrophic cardiomyopathy, main pulmonary artery dilation, and aortic root dilation. To our knowledge, this is the first case in which all three of these cardiovascular features have been observed in a single patient with Noonan syndrome.
John L Jefferies; John W Belmont; Ricardo Pignatelli; Jeffrey A Towbin; William J Craigen
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2009-10-01
Journal Detail:
Title:  Pediatric cardiology     Volume:  31     ISSN:  1432-1971     ISO Abbreviation:  Pediatr Cardiol     Publication Date:  2010 Jan 
Date Detail:
Created Date:  2010-01-21     Completed Date:  2010-04-13     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8003849     Medline TA:  Pediatr Cardiol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  114-6     Citation Subset:  IM    
Section of Pediatric Cardiology, Texas Children's Hospital, 6621 Fannin, MC 19345-C, Houston, TX 77030, USA.
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MeSH Terms
Aorta / abnormalities*
Cardiomyopathy, Hypertrophic / genetics*
Dilatation, Pathologic
Noonan Syndrome / genetics*
Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics*
Pulmonary Artery / abnormalities*
Reg. No./Substance:
EC protein, human; EC Tyrosine Phosphatase, Non-Receptor Type 11

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