title: Tetralogy of Fallot variant with pulmonary atresia (pseudotruncus arteriosus) in a case of maternal PKU syndrome.
abstract: The authors report on a child with a rare variant of the Tetralogy of Fallot with pulmonary atresia also known as Pseudotruncus arteriosus, who was born by a mother affected by classic phenylketonuria (PKU), diet free of phenylalanine until the age of seven years. According to the authors, this is the first example of such rare variant in an offspring of maternal PKU syndrome.
authors.affiliation: Vittorio Emanuele-Policlinico University Hospital, Catania, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Pavone
authors.forename: A D
authors.initials: AD
authors.lastname: Praticò
authors.forename: I
authors.initials: I
authors.lastname: Bianca
authors.forename: R
authors.initials: R
authors.lastname: Raffaele
authors.forename: I
authors.initials: I
authors.lastname: Vecchio
authors.forename: S
authors.initials: S
authors.lastname: Salafia
authors.forename: E R
authors.initials: ER
authors.lastname: Praticò
authors.forename: G
authors.initials: G
authors.lastname: Incorpora
mesh_terms: D000328:Adult; D017809:Fatal Outcome; D005260:Female; D006333:Heart Failure / Q000209:etiology; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D010166:Palliative Care; D017042:Phenylketonuria, Maternal / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D018633:Pulmonary Atresia / Q000175:diagnosis* / Q000601:surgery; D013771:Tetralogy of Fallot / Q000175:diagnosis* / Q000601:surgery; D016216:Ultrasonography, Prenatal