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Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2016 Mar; Vol. 170 (3), pp. 665-9. Date of Electronic Publication: 2015 Dec 21. - Publication Year :
- 2016
-
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.<br /> (© 2015 Wiley Periodicals, Inc.)
- Subjects :
- Adolescent
Cardiomyopathy, Hypertrophic complications
Cardiomyopathy, Hypertrophic diagnosis
Cardiomyopathy, Hypertrophic pathology
Coronary Artery Disease complications
Coronary Artery Disease diagnosis
Coronary Artery Disease pathology
Female
Gene Expression
Humans
Noonan Syndrome complications
Noonan Syndrome diagnosis
Noonan Syndrome pathology
Pulmonary Valve Stenosis complications
Pulmonary Valve Stenosis diagnosis
Pulmonary Valve Stenosis pathology
Cardiomyopathy, Hypertrophic genetics
Coronary Artery Disease genetics
Mutation
Noonan Syndrome genetics
Pulmonary Valve Stenosis genetics
SOS1 Protein genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 170
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 26686981
- Full Text :
- https://doi.org/10.1002/ajmg.a.37505