title: Ebstein's anomaly of the tricuspid valve in association with tetralogy of fallot and absent pulmonary valve syndrome.
abstract: Ebstein's anomaly and absent pulmonary valve syndrome belong to the rarest congenital heart defects. Their association has never been reported so far. We present the unusual case of a fetus at 23 weeks of gestation with Ebstein's anomaly, tetralogy of Fallot, absent pulmonary valve and agenesis of the arterial duct. The main diagnostic features were apical displacement of the septal leaflet of the tricuspid valve with an offset from the mitral valve of 8 mm, a pronounced atrialization of the right ventricle, a large malalignment ventricular septal defect with overriding aorta in combination with absence of the pulmonary valve leaflets, to and fro flow pattern over the stenotic pulmonary valve annulus, turbulent flow in the pulmonary trunk, massive dilatation of the pulmonary trunk plus the pulmonary arteries and a right aortic arch with retroesophageal course of an aberrant left subclavian artery. The arterial duct and the thymus were absent. The remaining fetal anatomy was unremarkable. Amniocentesis revealed a normal male karyotype; 22q11 microdeletion was ruled out. After being counseled on the unfavorable prognosis, the parents opted for termination of pregnancy. The prenatal cardiac findings were confirmed at autopsy; however, a severely hypoplastic thymus was found instead of the suspected aplasia.
authors.affiliation: Department of Obstetrics and Prenatal Medicine, University of Bonn, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Abramian
authors.forename: U
authors.initials: U
authors.lastname: Gembruch
authors.forename: A
authors.initials: A
authors.lastname: Geipel
authors.forename: A M
authors.initials: AM
authors.lastname: Müller
authors.forename: B
authors.initials: B
authors.lastname: Baier
authors.forename: C
authors.initials: C
authors.lastname: Berg
mesh_terms: D000328:Adult; D004437:Ebstein Anomaly / Q000150:complications / Q000000981:diagnostic imaging* / Q000473:pathology; D005260:Female; D006349:Heart Valve Diseases / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D059785:Karyotype; D008297:Male; D011247:Pregnancy; D011664:Pulmonary Valve / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D013771:Tetralogy of Fallot / Q000150:complications / Q000000981:diagnostic imaging* / Q000473:pathology; D016216:Ultrasonography, Prenatal