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

Giulio Calcagni, Anwar Baban, Enrica De Luca, Benedetta Leonardi, Giacomo Pongiglione, Maria Cristina Digilio

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)665-669
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume170
Issue number3
DOIs
Publication statusPublished - Mar 1 2016

Keywords

  • Coronary artery ectasia
  • Noonan syndrome (NS)
  • SOS1

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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