title: Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.
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.
authors.affiliation: Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Giulio
authors.initials: G
authors.lastname: Calcagni
authors.affiliation: Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Anwar
authors.initials: A
authors.lastname: Baban
authors.affiliation: Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Enrica
authors.initials: E
authors.lastname: De Luca
authors.affiliation: Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Benedetta
authors.initials: B
authors.lastname: Leonardi
authors.affiliation: Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Giacomo
authors.initials: G
authors.lastname: Pongiglione
authors.affiliation: Department of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Digilio
mesh_terms: D000293:Adolescent; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D003324:Coronary Artery Disease / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D015870:Gene Expression; D006801:Humans; D009154:Mutation; D009634:Noonan Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D011666:Pulmonary Valve Stenosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D020837:SOS1 Protein / Q000235:genetics*
chemical_list: D020837:SOS1 Protein
keywords: Noonan syndrome (NS); SOS1; coronary artery ectasia