Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review

Am J Med Genet A. 2016 Mar;170(3):665-9. doi: 10.1002/ajmg.a.37505. Epub 2015 Dec 21.

Abstract

Noonan syndrome (NS) is the second most frequent hereditary syndrome with cardiac involvement. Pulmonary valve stenosis and hypertrophic cardiomyopathy are the most prevalent cardiovascular abnormalities. We report on a 14-year-old girl with NS due to SOS1 mutation with pulmonary stenosis and idiopathic coronary ectasia. To the best of our knowledge, this is the first report describing coronary ectasia in a patient with NS secondary to a SOS1 mutation. We include a literature review of this rare association.

Keywords: Noonan syndrome (NS); SOS1; coronary artery ectasia.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Cardiomyopathy, Hypertrophic / complications
  • Cardiomyopathy, Hypertrophic / diagnosis
  • Cardiomyopathy, Hypertrophic / genetics*
  • Cardiomyopathy, Hypertrophic / pathology
  • Coronary Artery Disease / complications
  • Coronary Artery Disease / diagnosis
  • Coronary Artery Disease / genetics*
  • Coronary Artery Disease / pathology
  • Female
  • Gene Expression
  • Humans
  • Mutation*
  • Noonan Syndrome / complications
  • Noonan Syndrome / diagnosis
  • Noonan Syndrome / genetics*
  • Noonan Syndrome / pathology
  • Pulmonary Valve Stenosis / complications
  • Pulmonary Valve Stenosis / diagnosis
  • Pulmonary Valve Stenosis / genetics*
  • Pulmonary Valve Stenosis / pathology
  • SOS1 Protein / genetics*

Substances

  • SOS1 Protein