title: Functional pulmonary atresia in a patient with neonatal Marfan syndrome caused by a c.3602G>A mutation in exon 29 of the FBN1 gene.
abstract: Neonatal Marfan syndrome is a severe form of the syndrome mostly caused by de-novo mutations in the fibrillin-1 gene. We report a newborn with neonatal Marfan syndrome and functional pulmonary atresia who died from congestive heart failure on postnatal day 22 despite treatment. He had a mutation in exon 29 of the fibrillin-1 gene at position c.3602G>A. Functional pulmonary atresia may be a life-threatening cardiovascular manifestation of neonatal Marfan syndrome.
authors.affiliation: Departments of Pediatrics Pediatric Cardiology, Baskent University Faculty of Medicine, Ankara, Turkey.
authors.forename: Murat
authors.initials: M
authors.lastname: Derbent
authors.forename: Deniz
authors.initials: D
authors.lastname: Anuk
authors.forename: Aylin
authors.initials: A
authors.lastname: Tarcan
authors.forename: Birgül
authors.initials: B
authors.lastname: Varan
authors.forename: Berkan
authors.initials: B
authors.lastname: Gurakan
authors.forename: Kursad
authors.initials: K
authors.lastname: Tokel
mesh_terms: D017809:Fatal Outcome; D000071838:Fibrillin-1; D000071837:Fibrillins; D006321:Heart / Q000503:physiopathology; D006333:Heart Failure / Q000209:etiology / Q000503:physiopathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008382:Marfan Syndrome / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008840:Microfilament Proteins / Q000235:genetics*; D020125:Mutation, Missense; D018633:Pulmonary Atresia / Q000150:complications* / Q000503:physiopathology; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines