[Pseudo-inherited form of left heart obstructive defects revealing maternal phenylketonuria].
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.
Saliba
Z
Z
Service de cardiologie pédiatrique, hôpital Necker-Enfants malades, Paris.
Bah
G
G
Martin
D
D
Abadie
V
V
Azar
Z
Z
Fraisse
A
A
Sidi
D
D
Kachaner
J
J
Bonnet
D
D
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
D010649:Phenylalanine
Forme pseudo-héréditaire d'anomalies obstructives du coeur gauche révélatrice de phénylcétonurie maternelle.