Severe aortic valvar stenosis in familial Noonan syndrome with mutation of the PTPN11 gene
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.
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: firstname.lastname@example.org