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

Cardiol Young. 2007 Feb;17(1):95-7. doi: 10.1017/S1047951106001144. Epub 2006 Dec 22.

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.

Publication types

  • Case Reports

MeSH terms

  • Aortic Valve Stenosis / diagnosis
  • Aortic Valve Stenosis / genetics*
  • Echocardiography
  • Fatal Outcome
  • Humans
  • Infant, Newborn
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Male
  • Mutation
  • Noonan Syndrome / diagnosis
  • Noonan Syndrome / genetics*
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11
  • Protein Tyrosine Phosphatases / genetics*

Substances

  • Intracellular Signaling Peptides and Proteins
  • PTPN11 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11
  • Protein Tyrosine Phosphatases