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

• Published in: Ultrasound in obstetrics & gynecology 2001-03, Vol.17 (3), p.263-267
• Main Authors: Becker, R., Schmitz, L., Guschmann, M., Wegner, R.‐D., Stiemer, B., Entezami, M.
• Format: Article
• Language: English
• Subjects: absent pulmonary valve syndrome; Adult; Biological and medical sciences; double outlet right ventricle; Female; Fetal Diseases - diagnostic imaging; first trimester; Gynecology. Andrology. Obstetrics; Humans; Management. Prenatal diagnosis; Medical sciences; Pregnancy; Pregnancy. Fetus. Placenta; prenatal diagnosis; Pulmonary Atresia - diagnostic imaging; Pulmonary Atresia - genetics; tetralogy of Fallot with absent pulmonary valve; Ultrasonography, Doppler, Color; Ultrasonography, Doppler, Pulsed; Ultrasonography, Prenatal; ultrasound
• ISSN: 0960-7692; 1469-0705
• DOI: 10.1046/j.1469-0705.2001.00242.x

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. Copyright © 2001 International Society of Ultrasound in Obstetrics and Gynecology