Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 170, Issue 3, Pages 665-669Publisher
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.37505
Keywords
Noonan syndrome (NS); coronary artery ectasia; SOS1
Categories
Ask authors/readers for more resources
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available