| Coronary artery dilatation in LEOPARD syndrome. A child case and literature review. | |
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MedLine Citation:
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PMID: 19207402 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Yoko Iwasaki; Hitoshi Horigome; Miho Takahashi-Igari; Yoshiaki Kato; M Abdur Razzaque; Rumiko Matsuoka |
Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: Congenital heart disease Volume: 4 ISSN: 1747-0803 ISO Abbreviation: Congenit Heart Dis Publication Date: 2009 Jan-Feb |
Date Detail:
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Created Date: 2009-02-11 Completed Date: 2009-05-21 Revised Date: 2011-05-05 |
Medline Journal Info:
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Nlm Unique ID: 101256510 Medline TA: Congenit Heart Dis Country: United States |
Other Details:
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Languages: eng Pagination: 38-41 Citation Subset: IM |
Affiliation:
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Department of Child Health, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Japan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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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:
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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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