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Interruption of the aortic arch at the isthmus with DiGeorge syndrome and 22q11.2 deletion

Published online by Cambridge University Press:  19 August 2008

Kazuhiro Takahashi ,
Takashi Kuwahara  and
Masayoshi Nagatsu
Kazuhiro Takahashi*
Affiliation:
Division of Pediatric Cardiology; Gifu Prefecture Hospital, Gifu, Japan
Takashi Kuwahara
Affiliation:
Division of Pediatric Cardiology; Gifu Prefecture Hospital, Gifu, Japan
Masayoshi Nagatsu
Affiliation:
Cardiac Surgery, Gifu Prefecture Hospital, Gifu, Japan
*
Kazuhiro Takahashi MD. Division of Pediatric Cardiology, Gifu Prefecture Hospital 4–6–1 Noishiki, Gifu 500–8717, Japan. Tel: + 81–58–246–1111; Fax: +81–58–248–3805; E-mail: mailto: [email protected]
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Abstract

A 6-day-old male with interruption of the aortic arch at the isthmus (type A) had the typical phenotype of DiGeorge syndrome. There was also a doubly committed juxta-arterial ventricular septal defect and an unobstructed left ventricular outflow tract. Hypoplasia of the thymus was confirmed during a modified Blalock-Park operation. He had persistent hypocalcemia, and was susceptible to infection. He was subsequently revealed by the use of fluorescence in situ hybridization analysis to have 22q11.2 deletion. Interruption of the aortic arch at the isthmus is presumed to reflect abnormal fetal hemodynamics, and is considered a distinct pathogenetic entity from interruption between the left common carotid and subclavian arteries, the latter being the variant more frequently associated with DiGeorge syndrome. In our case, the 22q11.2 deletion likely played a major role in the etiology of the interrupted aortic arch.

Keywords

DiGeorge syndrome22q11.2 deletioninterruption of the aortic arch type A
Type
Brief Reports
Information
Cardiology in the Young , Volume 9 , Issue 5 , September 1999 , pp. 516 - 518
Copyright
Copyright © Cambridge University Press 1999

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References

1.Rauch, A, Hofbeck, M, Leipold, G, Klinge, J, Ttautmann, U, Kirsch, M, Singer, H, and Peiffer, RA. Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch. Am J Med Genet 1998; 78: 322–331.Google Scholar
2.Lewin, MB, Lindsay, EA, Jurecic, V, Goytia, V, Towbin, JA and Baldini, A. A genetic etiology for interruption of the aortic arch type B. Am J Cardiol 1997; 80: 493–497.CrossRefGoogle ScholarPubMed
3.Lindsay, EA, Goldberg, R, Jurecic, V, Morrow, B, Carlson, C, Kucherlapati, RS, Shprintzen, RJ, Baldini, A. Velo-cardio-facial syndrome: Frequency and extent of 22q11 deletions. Am J Med Genet 1995; 57: 514–522.Google Scholar
4.Van Mierop, LHS and Kutsche, LM. Interruption of the aortic arch and coarctation of the aorta: pathogenetic relations. Am J Cardiol 1984; 54: 829–834.CrossRefGoogle ScholarPubMed
5.Clark, EB. Mechanisms in the pathogenesis of congenital cardiac malformarions. In: Pierpont, ME, Moller, JH (eds): Genetics of Cardiovascular Disease. Martinus Nijhoff, Boston, 1986, 3–11.Google Scholar