title: Absent Aortic Valve in DiGeorge Syndrome.
abstract: A 20-week-old fetus with the 22q11.2 deletion characteristic of DiGeorge syndrome is described with vertebral segmentation abnormalities and complex cardiovascular anomalies including an absent aortic valve. This is only the second known case of absent aortic valve in association with DiGeorge syndrome. We discuss the association of absent aortic valve with other conotruncal defects and the utility of fetal echocardiography in the diagnosis of DiGeorge syndrome.
authors.affiliation: 1 Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
authors.forename: Elizabeth C
authors.initials: EC
authors.lastname: Bertsch
authors.affiliation: 1 Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
authors.forename: Lucy
authors.initials: L
authors.lastname: Minturn
authors.affiliation: 2 Department of Pediatrics, Division of Cardiology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.
authors.forename: Nina L
authors.initials: NL
authors.lastname: Gotteiner
authors.affiliation: 1 Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
authors.forename: Linda M
authors.initials: LM
authors.lastname: Ernst
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D001021:Aortic Valve / Q000002:abnormalities* / Q000000981:diagnostic imaging; D001344:Autopsy; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000175:diagnosis* / Q000235:genetics; D018618:Echocardiography, Doppler, Color; D005260:Female; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005865:Gestational Age; D006801:Humans; D010641:Phenotype; D011237:Predictive Value of Tests; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
keywords: 22q deletion syndrome; DiGeorge syndrome; absent aortic valve; aortic valve anomalies