Prenatal diagnosis of absent pulmonary valve syndrome by fetal echocardiography: retrospective analysis of 12 cases

Abstract

Objective To summarize the echocardiographic features of fetal absent pulmonary valve syndrome (APVS). Methods Clinical data and echocardiograms of 12 cases of fetal APVS prenatally diagnosed in the Department of Pediatric Cardiology, Guangdong Cardiovascular Institute from July 2015 to April 2017 were reviewed retrospectively and the echocardiographic features of APVS were summarized. Results Aneurysmal dilation of the main pulmonary artery and branches arteries were found in all cases, causing tracheal and esophageal compression in one case and lung compression in two cases. Color Doppler revealed systolic and diastolic turbulent blood flow with to-and-fro blood flow in pulmonary arteries and pulmonary regurgitation. All fetuses were situs solitus and atrioventricular concordance. Eleven cases were also identified with malposition of the great arteries accompanied with ventricular septal defect, while the other one with normally related great arteries and intact ventricular septum was diagnosed with dysplasia of distal left pulmonary artery and pericardial effusion. Absent ductus arteriosus, increased cardiothoracic ratio and myocardial hypertrophy were found in four, two and five cases, respectively. Fetal umbilical arterial systolic/diastolic ratio and resistance index of all cases were normal. Conclusions Typical APVS is characterized by absent or rudimentary pulmonary valve accompanied with prominant dilated pulmonary arteries, pulmonary valve stenosis and severe pulmonary regurgitation. It is usually accompanied by conotruncal defects, but attention should also be paid to other atypical cardiac abnormalities during screening. Key words: Pulmonary valve; Congenital abnormalities; Pulmonary valve insufficiency; Echocardiography; Ultrasonography, prenatal