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

Authors :
Calcagni G
Baban A
De Luca E
Leonardi B
Pongiglione G
Digilio MC
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.)

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