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.
Abadir
Sylvia
S
Department of Pediatric Cardiology, Hôpital des Enfants, Toulouse, France. abadir@club-internet.fr
Edouard
Thomas
T
Julia
Sophie
S
D001024:Aortic Valve Stenosis / Q000175:diagnosis / Q000235:genetics*; D004452:Echocardiography; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D009154:Mutation; D009634:Noonan Syndrome / Q000175:diagnosis / Q000235:genetics*; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*
D047908:Intracellular Signaling Peptides and Proteins; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases