Prenatal diagnosis of absent pulmonary valve syndrome

Abstract

Background. 'Absent pulmonary valve syndrome' is an uncommon combination of cardiac anomalies which can cause severe respiratory distress soon after birth. Methods. Prenatal echocardiographic examination was used to diagnose. Results. The findings which strongly suggested the diagnosis were the presence of a fibrous ridge at the level of the pulmonary annulus, an aneurysmal dilatation of the pulmonary arteries, and the turbulent flow with to-and-fro patterns recorded in the ventriculopulmonary junction. Conclusions. The echocardiographic features of absent pulmonary valve syndrome appear to be unique, and allow a prenatal diagnosis using ultrasonography. The association between agenesis of the ductus arteriosus and absence of the pulmonary valve is discussed.