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

Citation
R. Becker et al., Prenatal diagnosis of familial absent pulmonary valve syndrome: case report and review of the literature, ULTRASOUN O, 17(3), 2001, pp. 263-267
Citations number
23
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Reproductive Medicine
Journal title
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
ISSN journal
0960-7692 → ACNP
Volume
17
Issue
3
Year of publication
2001
Pages
263 - 267
Database
ISI
SICI code
0960-7692(200103)17:3<263:PDOFAP>2.0.ZU;2-4
Abstract
We report on a case of absent pulmonary value syndrome in a woman with a hi story of one healthy child and one child with tetralogy of Fallot with abse nt pulmonary value. The diagnosis was missed at the first ultrasound examin ation performed at 13 + 5 weeks of gestation and correctly diagnosed at 21 + 5 weeks. Re-evaluation of the ultrasound examination recorded at 13 + 5 w eeks exhibited severe insufficiency of the pulmonary valve at this rime. Ho wever, neither dilatation of the right and left pulmonary arteries nor asym metry of the ventricles were present at that time. The pregnancy was termin ated at 22 + 1 weeks of gestation when autopsy confirmed the diagnosis of a bsent pulmonary valve syndrome. Karyotyping of the fetus after termination of pregnancy revealed normal chromosomes. Echocardiography of the parents a nd the healthy sibling revealed normal results.