Cardiology in the Young

Table of Contents - 2007 - Volume 17, Issue 01  


Brief Report

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

Sylvia Abadir a1c1, Thomas Edouard a2 and Sophie Julia a3
a1 Department of Pediatric Cardiology, Hôpital des Enfants, Toulouse, France
a2 Department of Pediatric Endocrinology, Hôpital des Enfants, Toulouse, France
a3 Department of Genetics, Hôpital des Enfants, Toulouse, France

Article author query
abadir s   [PubMed][Google Scholar] 
edouard t   [PubMed][Google Scholar] 
julia s   [PubMed][Google Scholar] 

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.

(Accepted March 8 2006)


Key Words: Congenital heart disease; genotype-phenotype correlation; myocardiopathy; pulmonary valvar stenosis.

Correspondence:
c1 Correspondence to: Dr Sylvia Abadir, Unité de Cardiologie Pédiatrique, Hôpital des Enfants, 330 avenue de Grande-Bretagne, B-P 3119, 31026 Toulouse Cedex 3, France. Tel: +33534 55 87 34, +33 624 86 84 91; Fax: +33 534 55 86 00; E-mail: abadir@club-internet.fr

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