title: [Pseudo-inherited form of left heart obstructive defects revealing maternal phenylketonuria].
abstract: If an adequate diet is not given to mothers with phenylketonuria, their offsprings often exhibit intra-uterine growth retardation with associated microcephaly and various malformations. Here, we report two families in whom we observed recurrent left heart malformations associated with microcephaly masquerading as a mendelian condition and revealing a maternal phenylketonuria. These observations suggest that when confronted to recurrent heart malformations with extra-cardiac defects that are not due either to an inherited chromosomal anomaly or to a well characterized mendelian disease, a maternal teratogen should be identified and more particularly maternal hyperphenylalaninemia if an intra-uterine growth retardation or a microcephaly is part of the syndrome.
authors.affiliation: Service de cardiologie pédiatrique, hôpital Necker-Enfants malades, Paris.
authors.forename: Z
authors.initials: Z
authors.lastname: Saliba
authors.forename: G
authors.initials: G
authors.lastname: Bah
authors.forename: D
authors.initials: D
authors.lastname: Martin
authors.forename: V
authors.initials: V
authors.lastname: Abadie
authors.forename: Z
authors.initials: Z
authors.lastname: Azar
authors.forename: A
authors.initials: A
authors.lastname: Fraisse
authors.forename: D
authors.initials: D
authors.lastname: Sidi
authors.forename: J
authors.initials: J
authors.lastname: Kachaner
authors.forename: D
authors.initials: D
authors.lastname: Bonnet
mesh_terms: D005260:Female; D006330:Heart Defects, Congenital / Q000209:etiology* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000209:etiology; D009679:Nuclear Family; D010375:Pedigree; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias; D011247:Pregnancy; D011248:Pregnancy Complications
chemical_list: D010649:Phenylalanine
vernacular_title: Forme pseudo-héréditaire d'anomalies obstructives du coeur gauche révélatrice de phénylcétonurie maternelle.