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
Yan Song, Yu-fen Zou, Yan-hui Ru, Jing Qiu, Hong Yin1.
Department of Ultrasound, Shandong Provincial Maternal and Child Health
Hospital, Jinan, China
1, Corresponding Author
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.
KEYWORDS congenital heart disease, fetal echocardiography,
pulmonary valve, Tetralogy of Fallot