Absent pulmonary valve syndrome with tetralogy of Fallot detected at an early gestational age of 27 weeks-A case report

摘要

Objective: Absent pulmonary valve syndrome (APVS) is a rare congenital anomaly, usually seen in association with a ventricular septal defect. It has been reported to occur in 3-6% of cases of tetralogy of Fallot (TOF). In this case report we discuss a case of absent pulmonary valve syndrome with tetralogy of Fallot that was detected in utero by fetal echocardiog-raphy at 27 weeks of gestation.Case: A 20-year-old pregnant woman at 27 weeks of gestation referred to our Institute. She has no consanguineous history. We diagnosed the case as tetralogy of Fallot with absent pulmonary valves in fetal echocardiographic study.Conclusion: We conclude that when a paracardiac cystic, pulsatile lesion with dilated pulmonary arteries are seen in the fetus in utero then other features associated with the syndrome, such as TOF and the presence or absence of the ductus arteriosus should be looked for. In our case there was no ductus arteriosus.