Key result
SOS1-mutated Noonan syndrome presents with rare idiopathic coronary ectasia in a pediatric patient.
Case Report (n=1)
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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.
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Calcagni et al. (2015) conducted a case report in Noonan syndrome with SOS1 mutation and coronary artery ectasia (n=1). SOS1 mutation was evaluated. A 14-year-old girl with Noonan syndrome due to an SOS1 mutation presented with the rare cardiovascular abnormality of idiopathic coronary ectasia.
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