Prenatal diagnosis and postnatal outcome in patients with absent pulmonary valve syndrome not associated with tetralogy of Fallot: report of one case and review of the literature.

Echocardiographic diagnosis of absent pulmonary valve syndrome and muscular ventricular septal defect was made in a fetus of gestational age 25 weeks referred for marked dilation of the right ventricle at obstetric ultrasound examination. Delivery was planned in a tertiary-level center. The neonate became severely symptomatic for respiratory distress and heart failure during the second day of life. His clinical condition dramatically improved after surgical closure of a large ductus arteriosus. The child is still asymptomatic 30 months later. In the minority of cases with absent pulmonary valve not associated with tetralogy of Fallot, irrespective of the presence of muscular ventricular septal defect, early closure of the ductus may be crucial to improve hemodynamic conditions and postpone surgical correction.