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
Classical absent pulmonary valve syndrome (APVS) with tetralogy of
Fallot (TOF) is a rare congenital cardiac anomaly commonly associated
with absent 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 dilated obviously. 15 days later, the PDA narrowed
down with the discovery of pulmonary artery ectasia at the same time.
This progress indicated that the absent of PDA is not necessary for the
survival of APVS with TOF in utero, in contrast, the absent 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.