Absent pulmonary valve syndrome with tetralogy of fallot and patent ductus arteriosus at 14 weeks of gestation and follow-up 2 weeks later: Case report and review of literature

Abstract

Classical absent pulmonary valve syndrome (APVS) with tetralogy of fallot (TOF) is a rare congenital cardiac anomaly commonly associated with the absence of patent ductus arteriosus (PDA), which is mostly diagnosed after 20 weeks of gestation by fetal echocardiography. This case of APVS with TOF was suspected at 13 weeks of gestation and diagnosed at 14 weeks of gestation with an obvious PDA. The pulmonary arterial trunk and the branches did not dilate obviously. Fifteen days later, the PDA narrowed down with the discovery of pulmonary artery ectasia at the same time. This progress indicated that the absence of PDA is not necessary for the survival of APVS with TOF in utero, in contrast, the absence or restriction of PDA may be nothing less than adaptation to the disease. Fetal autopsy confirmed the accuracy of fetal echocardiography. Chromosome microarray analysis (CMA) showed 20p12 deletion in this fetus, which is rare among TOF cases.