Absent Aortic Valve in DiGeorge Syndrome

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 syndr...

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Published inPediatric 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
LanguageEnglish
Published Los Angeles, CA SAGE Publications 01.01.2016
SAGE PUBLICATIONS, INC
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ISSN1093-5266
1615-5742
DOI10.2350/15-03-1616-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.
AbstractList 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.
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.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.
Author Minturn, Lucy
Ernst, Linda M.
Gotteiner, Nina L.
Bertsch, Elizabeth C.
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  surname: Minturn
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  givenname: Nina L.
  surname: Gotteiner
  fullname: Gotteiner, Nina L.
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  surname: Ernst
  fullname: Ernst, Linda M.
  email: linda-ernst@northwestern.edu
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Cites_doi 10.1378/chest.68.3.381
10.1016/0167-5273(89)90256-8
10.1186/1750-1172-2-41
10.1016/j.ijcard.2005.12.029
10.1007/BF01744495
10.1067/mpd.2001.112174
10.1016/S0735-1097(84)80261-2
10.1007/s00246-011-9959-y
10.1007/BF02238366
10.1159/000362386
10.1007/s00246-002-0322-1
10.3390/jcdd1030177
10.1002/aja.1000710303
10.1016/j.ijcard.2006.02.002
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Keywords 22q deletion syndrome
aortic valve anomalies
DiGeorge syndrome
absent aortic valve
Language English
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Snippet A 20-week-old fetus with the 22q11.2 deletion characteristic of DiGeorge syndrome is described with vertebral segmentation abnormalities and complex...
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SubjectTerms 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
Title Absent Aortic Valve in DiGeorge Syndrome
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