Fetus with agenesis of ductus venosus complicated with aortic valve dysplasia subsequently diagnosed with sinus of valsalva aneurysm after birth

Abstract

Agenesis of ductus venosus (ADV) is a rare condition with a variable prognosis depending on the venous connection and accompanying complications. Congenital sinus of valsalva aneurysm (SVA) is an extremely rare condition that may induce rupture, thrombosis, or compression of the coronary artery. This report describes the case of a 26-year-old primipara woman who presented a dilated umbilical vein going directly into the right atrium, which was diagnosed as extrahepatic drainage of ADV and aortic valve abnormality at 26 weeks of gestation. There was no sign of cardiomegaly or cardiac dysfunction during gestation. The dilation of the umbilical vein got better at 36 weeks of gestation. A male weighing 1,972 g was delivered by cesarean section due to non-reassuring fetal status at 39 weeks of gestation. After birth, SVA, double outlet right ventricle, atrial septal defect, and tricuspid dysplasia were confirmed. With esophageal atresia and imperforate anus, the baby was diagnosed as VACTERL association. In this case, although the umbilical vein ran directly into the right atrium, there was no cardiomegaly due to the kink in the umbilical vein right after the insertion to the abdomen, which would reduce the direct load to the heart. Since ultrasound findings of SVA during the fetal stage are very rare, the images presented here may be of interest to readers.