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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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References

Sarkozy A, Conti E, Seripa D, et al. Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. J Med Genet 2003; 40: 704–708.Google Scholar
Tartaglia M, Kalidas K, Shaw A, et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 2002; 70: 1555–1563.Google Scholar
Tartaglia M, Mehler EL, Goldberg R, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001; 29: 465–468.Google Scholar
Digilio MC, Marino B. Clinical manifestations of Noonan Syndrome. Images Paediatr Cardiol 2001; 7: 19–30.Google Scholar
Keren B, Hadchouel A, Saba S, et al. PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. J Med Genet 2004; 41: e117.Google Scholar
Zenker M, Buheitel G, Rauch R, et al. Genotype-phenotype correlations in Noonan syndrome. J Pediatr 2004; 144: 368–374.Google Scholar
Marino B, Digilio MC, Toscano A, Giannotti A, Dallapiccola B. Congenital heart diseases in children with Noonan syndrome: an expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr 1999; 135: 703–706.Google Scholar
Danetz JS, Donofrio MT, Embrey RP. Multiple left-sided cardiac lesions. Cardiol Young 1999; 9: 610–612.Google Scholar
Mollica N, Antoncecchi S, Antoncecchi Jr E, Bellantuono R, Castellaneta G, De Luca I. Combined aortic and pulmonary valve stenosis, changes in primary hemostasis and partial deficiency of factor XII in Noonan's syndrome. Minerva Cardioangiol 1987; 35: 311–315.Google Scholar
Chen B, Bronson RT, Klaman LD, et al. Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis. Nat Genet 2000; 24: 296–299.Google Scholar