Absent pulmonary valve syndrome – Antenatal diagnosis

Abstract

Absent pulmonary valve syndrome (APVS) also known as congenital absence of pulmonary valve or pulmonary valve agenesis is a rare outflow tract anomaly of heart. It is defined as absent or rudimentary pulmonary valve. Variable degree of annular stenosis with dilatation of main pulmonary artery (MPA) is always present. However dilatation of pulmonary artery branches, ventricular septum defect (VSD) and tricuspid atresia may or may not be present. Most of the authors divide APVS in two categories: (a) Absent pulmonary valve with VSD – also known as Fallot type APVS (b) Absent pulmonary valve with intact ventricular septum and possible tricuspid atresia – also known as Non-Fallot type APVS. Most of cases belong to Fallot type APVS category. Overall Fallot type APVS occurs in 0.2–0.4% of live born infants with congenital heart disease.1 Non-Fallot type APVS is rare and its frequency is unknown. There are only a few case reports of its antenatal diagnosis. We report a case of Non-Fallot type of APVS which was diagnosed antenatally on the basis of characteristic ultrasound findings. APVS with these set of findings is extremely rare.