Document Detail


Coronary artery dilatation in LEOPARD syndrome. A child case and literature review.
MedLine Citation:
PMID:  19207402     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
LEOPARD syndrome (LS) is a rare inherited disease with multiple somatic abnormalities. LS and Noonan syndrome (NS) share many features, including cardiovascular disorders, and PTPN11 gene mutation is commonly reported in both syndromes. We report a 10-year-old male patient who was diagnosed as LS based on typical phenotypes including multiple lentigines, electrocardiographic abnormalities, ocular hypertelorism and deafness. Although the most prevalent cardiovascular abnormalities in LS are pulmonary stenosis and hypertrophic cardiomyopathy, diffuse bilateral dilatation of the coronary arteries was found on angiography in addition to apical hypertrophic cardiomyopathy in the present case. The vessels showed slight increases in diameter on angiography conducted at an interval of 6 years. A literature review identified several case reports describing coronary ectasia in patients with NS as well as LS. Considering both syndromes share the mutation of PTPN11 gene, coronary arterial involvement could be related to the gene aberration and should be screened even if the patient shows no symptoms of ischemic heart disease.
Authors:
Yoko Iwasaki; Hitoshi Horigome; Miho Takahashi-Igari; Yoshiaki Kato; M Abdur Razzaque; Rumiko Matsuoka
Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Congenital heart disease     Volume:  4     ISSN:  1747-0803     ISO Abbreviation:  Congenit Heart Dis     Publication Date:    2009 Jan-Feb
Date Detail:
Created Date:  2009-02-11     Completed Date:  2009-05-21     Revised Date:  2011-05-05    
Medline Journal Info:
Nlm Unique ID:  101256510     Medline TA:  Congenit Heart Dis     Country:  United States    
Other Details:
Languages:  eng     Pagination:  38-41     Citation Subset:  IM    
Affiliation:
Department of Child Health, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Japan.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / diagnosis
Child
Coronary Angiography
Coronary Artery Disease / genetics*,  radiography
Dilatation, Pathologic / genetics,  radiography
Humans
LEOPARD Syndrome / diagnosis*,  genetics
Male
Mutation
Noonan Syndrome / diagnosis,  genetics*
Prognosis
Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics*
Severity of Illness Index
Chemical
Reg. No./Substance:
EC 3.1.3.48/PTPN11 protein, human; EC 3.1.3.48/Protein Tyrosine Phosphatase, Non-Receptor Type 11

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


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