Prenatal diagnosis of familial absent pulmonary valve syndrome: case report and review of the literature

Abstract

We report on a case of absent pulmonary valve syndrome in a woman with a history of one healthy child and one child with tetralogy of Fallot with absent pulmonary valve. The diagnosis was missed at the first ultrasound examination performed at 13 + 5 weeks of gestation and correctly diagnosed at 21 + 5 weeks. Re-evaluation of the ultrasound examination recorded at 13 + 5 weeks exhibited severe insufficiency of the pulmonary valve at this time. However, neither dilatation of the right and left pulmonary arteries nor asymmetry of the ventricles were present at that time. The pregnancy was terminated at 22 + 1 weeks of gestation when autopsy confirmed the diagnosis of absent pulmonary valve syndrome. Karyotyping of the fetus after termination of pregnancy revealed normal chromosomes. Echocardiography of the parents and the healthy sibling revealed normal results.

Absent Pulmonary Valve Syndrome with Left Hemitruncus

“…Prenatal diagnosis of APVS has been reported as early as 22 weeks of gestation 5. Nearly one-fourth of the cases TOF/APVS are associated with other CHD such as dextrocardia,2 atrioventricular septal defects,3 and others.…”

Prenatal and Postnatal Survival of Fetal Tetralogy of Fallot

“…The reason for the high prevalence rate of an absent ductus arteriosus in tetralogy of Fallot with an absent pulmonary valve is still controversial. One hypothesis is that the ductus arteriosus is present at the early stage of embryogenesis and becomes obliterated later secondary to reduced pulmonary diastolic pressure caused by severe pulmonary valve insufficiency 12 , 53 . Another hypothesis is that fetuses with a present ductus arteriosus have an extreme right ventricular volume overload, which may not be compatible with life in utero 54 .…”

Photoelectrochemical Energy Conversion

“…It is almost always associated with a massive enlargement of the pulmonary trunk and its branches1, 2. APVS has been described as an isolated anomaly3–5, but it is usually associated with tetralogy of Fallot (TOF)4–8. The absence of the ductus arteriosus is also a common but not a consistent feature of this syndrome9, 10.…”

“…Prenatal diagnosis of APVS is feasible and has been reported in three case series4, 5, 11 and in several case reports6–8. Prenatal detection of the defect is usually made in the second half of pregnancy.…”