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.
Keywords:
Noonan syndrome (NS); SOS1; coronary artery ectasia.
© 2015 Wiley Periodicals, Inc.
MeSH terms
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Adolescent
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Cardiomyopathy, Hypertrophic / complications
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Cardiomyopathy, Hypertrophic / diagnosis
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Cardiomyopathy, Hypertrophic / genetics*
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Cardiomyopathy, Hypertrophic / pathology
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Coronary Artery Disease / complications
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Coronary Artery Disease / diagnosis
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Coronary Artery Disease / genetics*
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Coronary Artery Disease / pathology
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Female
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Gene Expression
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Humans
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Mutation*
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Noonan Syndrome / complications
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Noonan Syndrome / diagnosis
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Noonan Syndrome / genetics*
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Noonan Syndrome / pathology
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Pulmonary Valve Stenosis / complications
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Pulmonary Valve Stenosis / diagnosis
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Pulmonary Valve Stenosis / genetics*
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Pulmonary Valve Stenosis / pathology
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SOS1 Protein / genetics*