Prenatal detection of a tetralogy of Fallot with origin of the left pulmonary artery from the ascending aorta in a familial 22q11 microdeletion.
Here we report a case of prenatal diagnosis of anomalous origin of the left pulmonary artery from the ascending aorta associated with a tetralogy of Fallot in a familial form of 22q11 deletion. The mother, who had a normal heart and a velo-cardio-facial syndrome, had a first child with a pulmonary atresia plus ventricular septal defect associated with a 22q11 deletion. Prenatal diagnosis during the second pregnancy identified the above-described cono-truncal anomaly and FISH study showed a recurrent 22q11 deletion. This case illustrates the intrafamilial variability of cardiac involvement in 22q11 deletion as well as the possibility of diagnosing complex cono-truncal malformations during fetal life.
Saliba
Z
Z
Service de Cardiologie Pédiatrique, Hôpital Necker-Enfants Malades, Paris, France.
Le Bidois
J
J
Sidi
D
D
Kachaner
J
J
Bonnet
D
D
D000328:Adult; D001011:Aorta / Q000002:abnormalities*; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004452:Echocardiography; D005260:Female; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D011651:Pulmonary Artery / Q000002:abnormalities*; D013771:Tetralogy of Fallot / Q000175:diagnosis*