Absent Aortic Valve in DiGeorge Syndrome

• Published in: Pediatric and developmental pathology Vol. 19; no. 1; pp. 61 - 63
• Main Authors: Bertsch, Elizabeth C., Minturn, Lucy, Gotteiner, Nina L., Ernst, Linda M.
• Format: Journal Article
• Language: English
• Published: Los Angeles, CA SAGE Publications 01.01.2016; SAGE PUBLICATIONS, INC
• Subjects: Abortion, Induced; Adult; Aortic Valve - abnormalities; Aortic Valve - diagnostic imaging; Autopsy; Chromosome Deletion; Chromosomes, Human, Pair 22; DiGeorge Syndrome - diagnosis; DiGeorge Syndrome - genetics; Echocardiography, Doppler, Color; Female; Genetic Counseling; Genetic Predisposition to Disease; Genetic Testing; Gestational Age; Humans; Phenotype; Predictive Value of Tests; Pregnancy; Ultrasonography, Prenatal; 22q deletion syndrome; aortic valve anomalies; DiGeorge syndrome; absent aortic valve
• ISSN: 1093-5266; 1615-5742
• DOI: 10.2350/15-03-1616-CR.1

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.