Absent aortic valve in DiGeorge syndrome

Elizabeth C. Bertsch; Lucy Minturn; Nina L. Gotteiner; Linda M. Ernst

doi:10.2350/15-03-1616-CR.1

Absent aortic valve in DiGeorge syndrome

Elizabeth C. Bertsch, Lucy Minturn, Nina L. Gotteiner, Linda M. Ernst^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

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.

Original language	English (US)
Pages (from-to)	61-63
Number of pages	3
Journal	Pediatric and Developmental Pathology
Volume	19
Issue number	1
DOIs	https://doi.org/10.2350/15-03-1616-CR.1
State	Published - Jan 1 2016

Keywords

22q deletion syndrome
Absent aortic valve
Aortic valve anomalies
DiGeorge syndrome

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Pathology and Forensic Medicine

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10.2350/15-03-1616-CR.1

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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.",

keywords = "22q deletion syndrome, Absent aortic valve, Aortic valve anomalies, DiGeorge syndrome",

author = "Bertsch, {Elizabeth C.} and Lucy Minturn and Gotteiner, {Nina L.} and Ernst, {Linda M.}",

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AU - Bertsch, Elizabeth C.

AU - Minturn, Lucy

AU - Gotteiner, Nina L.

AU - Ernst, Linda M.

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Y1 - 2016/1/1

N2 - 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.

AB - 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.

KW - 22q deletion syndrome

KW - Absent aortic valve

KW - Aortic valve anomalies

KW - DiGeorge syndrome

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Absent aortic valve in DiGeorge syndrome

Abstract

Keywords

ASJC Scopus subject areas

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