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 in | Pediatric and developmental pathology Vol. 19; no. 1; pp. 61 - 63 |
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Main Authors | , , , |
Format | Journal Article |
Language | English |
Published |
Los Angeles, CA
SAGE Publications
01.01.2016
SAGE PUBLICATIONS, INC |
Subjects | |
Online Access | Get full text |
ISSN | 1093-5266 1615-5742 |
DOI | 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. |
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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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BackLink | https://www.ncbi.nlm.nih.gov/pubmed/26230226$$D View this record in MEDLINE/PubMed |
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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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References | Anderson, Mohun, Spicer, Bamforth, Brown, Chaudhry, Henderson 2014; 1 Kramer 1942; 71 Boudjemline, Fermont, Le Bidois, Lyonnet, Sidi, Bonnet 2001; 138 Miyabara, Ando, Yoshida, Saito, Sugihara 1994; 9 Muneuchi, Kuraoka, Ochiai, Nishibatake, Sese, Joo 2011; 32 Bierman, Yeh, Swersky, Martin, Wigger, Fox 1984; 3 Toews, Lortscher, Kelminson 1975; 68 Lin, Chin 1990; 11 Krasemann, Kehl, Hammel, Asfour 2003; 24 Weintraub, Chow, Gow 1989; 23 McKay 2007; 2 Park, Ko, Kim 2007; 114 Momma 2007; 114 bibr7-15-03-1616-CR.1 bibr15-15-03-1616-CR.1 bibr4-15-03-1616-CR.1 bibr8-15-03-1616-CR.1 bibr1-15-03-1616-CR.1 bibr13-15-03-1616-CR.1 bibr2-15-03-1616-CR.1 bibr9-15-03-1616-CR.1 bibr10-15-03-1616-CR.1 bibr5-15-03-1616-CR.1 bibr14-15-03-1616-CR.1 bibr6-15-03-1616-CR.1 bibr12-15-03-1616-CR.1 bibr3-15-03-1616-CR.1 Langman J (bibr11-15-03-1616-CR.1) 1985 |
References_xml | – volume: 114 start-page: 230 year: 2007 end-page: 235 article-title: Cardiovascular anomalies in patients with chromosome 22q11.2 deletion: A Korean multicenter study publication-title: Int J Cardiol – volume: 32 start-page: 839 year: 2011 end-page: 841 article-title: Fatal systemic air embolism in a neonate with absent aortic valve publication-title: Pediatr Cardiol – volume: 2 start-page: 41 year: 2007 article-title: Aorto-ventricular tunnel publication-title: Orphanet J Rare Dis – volume: 138 start-page: 520 year: 2001 end-page: 524 article-title: Prevalence of 22q11 deletion in fetuses with conotruncal cardiac defects: A 6-year prospective study publication-title: J Pediatr – volume: 68 start-page: 381 year: 1975 end-page: 382 article-title: Double outlet right ventricle with absent aortic valve publication-title: Chest – volume: 9 start-page: 49 year: 1994 end-page: 55 article-title: Absent aortic and pulmonary valves: Investigation of three fetal cases with cystic hygroma and review of the literature publication-title: Heart Vessels – volume: 71 start-page: 343 year: 1942 end-page: 370 article-title: The partitioning of the truncus and conus and the formation of the membranous portion of the interventricular septum in the human heart publication-title: Am J Anat – volume: 23 start-page: 255 year: 1989 end-page: 257 article-title: Absence of the leaflets of the aortic valve in DiGeorge syndrome publication-title: Int J Cardiol – volume: 3 start-page: 833 year: 1984 end-page: 837 article-title: Absence of the aortic valve: Antenatal and postnatal two-dimensional and Doppler echocardiographic features publication-title: J Am Coll Cardiol – volume: 1 start-page: 177 year: 2014 end-page: 200 article-title: Myths and realities relating to development of the arterial valves publication-title: J Cardiovasc Dev Dis – volume: 24 start-page: 304 year: 2003 end-page: 306 article-title: Congenital aortic regurgitation due to absent aortic cusps and high-degree mitral stenosis publication-title: Pediatr Cardiol – volume: 11 start-page: 195 year: 1990 end-page: 198 article-title: Absent aortic valve: A complex anomaly publication-title: Pediatr Cardiol – volume: 114 start-page: 147 year: 2007 end-page: 149 article-title: Cardiovascular anomalies associated with chromosome 22q11.2 deletion publication-title: Int J Cardiol – volume-title: Langman's Medical Embryology year: 1985 ident: bibr11-15-03-1616-CR.1 – ident: bibr6-15-03-1616-CR.1 doi: 10.1378/chest.68.3.381 – ident: bibr3-15-03-1616-CR.1 doi: 10.1016/0167-5273(89)90256-8 – ident: bibr13-15-03-1616-CR.1 doi: 10.1186/1750-1172-2-41 – ident: bibr14-15-03-1616-CR.1 doi: 10.1016/j.ijcard.2005.12.029 – ident: bibr5-15-03-1616-CR.1 doi: 10.1007/BF01744495 – ident: bibr15-15-03-1616-CR.1 doi: 10.1067/mpd.2001.112174 – ident: bibr10-15-03-1616-CR.1 doi: 10.1016/S0735-1097(84)80261-2 – ident: bibr7-15-03-1616-CR.1 doi: 10.1007/s00246-011-9959-y – ident: bibr8-15-03-1616-CR.1 doi: 10.1007/BF02238366 – ident: bibr1-15-03-1616-CR.1 doi: 10.1159/000362386 – ident: bibr9-15-03-1616-CR.1 doi: 10.1007/s00246-002-0322-1 – ident: bibr2-15-03-1616-CR.1 doi: 10.3390/jcdd1030177 – ident: bibr12-15-03-1616-CR.1 doi: 10.1002/aja.1000710303 – ident: bibr4-15-03-1616-CR.1 doi: 10.1016/j.ijcard.2006.02.002 |
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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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