4.2 Article

Coronary Artery Ectasia in Noonan Syndrome: Report of an Individual with SOS1 Mutation and Literature Review

Journal

AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 170, Issue 3, Pages 665-669

Publisher

WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.37505

Keywords

Noonan syndrome (NS); coronary artery ectasia; SOS1

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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. (c) 2015 Wiley Periodicals, Inc.

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