EP04.06: Prenatal diagnosis of absent pulmonary valve syndrome

Abstract

To analyse the echocardiographic features of absent pulmonary valve syndrome (APVS). The echocardiographic findings were retrospectively analysed in seven fetuses with APVS and the echocardiographic features of APVS were summarised. Of all seven fetuses with APVS, all of which demonstrated cardiac enlargement, the axis of the heart was to the left and the main pulmonary artery or branches were significantly dilated. The pulmonary valve was absent or rudimentary. Colour Doppler flow imaging demonstrated severe pulmonary regurgitation. Spectral Doppler imaging showed stenosis of the pulmonary annulus. Four fetuses associated with tetralogy of Fallot, one case of which associated with small foci in the left ventricle and one case associated with single umbilical artery. Two fetuses associated with right aortic arch. Two fetuses associated with double outlet of right ventricle. One fetus associated with atresia of mitral valve, right-ventricle typed single ventricle. One fetus associated with double outlet of right ventricle. One fetus associated with ventricular septal defect. Three fetuses associated with absent ductus arteriosus. The fetal echocardiographic findings of the APVS are characteristic and the APVS should be considered when markedly dilated right ventricle and dilated pulmonary arteries in combine with the stenosis and severe regurgitation of the pulmonary annulus. Identifying whether or not the ductus arteriosus is present can help in evaluating the prognosis.