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Severe aortic valvar stenosis in familial Noonan syndrome with mutation of the PTPN11 gene

Published online by Cambridge University Press:  22 December 2006

Sylvia Abadir ,
Thomas Edouard  and
Sophie Julia
Sylvia Abadir
Affiliation:
Department of Pediatric Cardiology, Hôpital des Enfants, Toulouse, France
Thomas Edouard
Affiliation:
Department of Pediatric Endocrinology, Hôpital des Enfants, Toulouse, France
Sophie Julia
Affiliation:
Department of Genetics, Hôpital des Enfants, Toulouse, France
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Abstract

Noonan's syndrome is an autosomal dominant genetic disease, in which mutation of the PTPN11 gene is found in from one-third to half of all cases. Pulmonary valvar stenosis and myocardiopathy are frequently associated cardiac malformations, whereas aortic valvar stenosis is rarely described. We report, as far as we know, the first case of familial Noonan syndrome with severe aortic valvar stenosis, demonstrating mutation of the PTPN11 gene in the father of the patient.

Keywords

Congenital heart diseasegenotype-phenotype correlationmyocardiopathypulmonary valvar stenosis
Type
Brief Report
Information
Cardiology in the Young , Volume 17 , Issue 1 , February 2007 , pp. 95 - 97
Copyright
2007 Cambridge University Press

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