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Interruption of the aortic arch associated with deletion of chromosome 22q11 is associated with a subarterial and doubly committed ventricular septal defect in Japanese patients

Published online by Cambridge University Press:  19 August 2008

Kazuo Momma ,
Masahiko Ando ,
Rumiko Matsuoka  and
Kunitaka Joo
Kazuo Momma*
Affiliation:
Department of Pediatric Cardiology, Heart Institute of Japan, Tokyo Women's Medical University, Tokyo, Japan;
Masahiko Ando
Affiliation:
Department of Pediatric Cardiology, Heart Institute of Japan, Tokyo Women's Medical University, Tokyo, Japan;
Rumiko Matsuoka
Affiliation:
Department of Pediatric Cardiology, Heart Institute of Japan, Tokyo Women's Medical University, Tokyo, Japan;
Kunitaka Joo
Affiliation:
Department of Pediatric Cardiology, Kyuushuu Koseinenkin Hospital, Kitakyuushuusi, Japan
*
Dr. Kazuo Momma, Department of Pediatric Cardiology, The Heart Institute of Japan, Tokyo Women's Medical University, Kawadacho, Shinjukuku, Tokyo 162-8666, Japan. Tel: 0081-3-3353-811; Fax: 0081-3-3356-0441.
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Abstract

Objectives

The purpose of this study was to clarify the clinical characteristics of interruption of the aortic arch associated with chromosome 22q11 deletion.

Background

About half of patients with interruption of the aortic arch between the left common carotid and the left subclavian artery have deletion of chromosome 22q11.

Methods

In total, 20 patients with interruption of the aortic arch were studied with fluorescence in situ hybridization using peripheral lymphocytes and a DiGeorge syndrome chromosomal probe (Oncor N25). Cardiovascular anomalies in these patients were diagnosed by cross-sectional echocardiography and angiocardiography, and were confirmed at intracardiac repair.

Results

Of 13 patients with interruption between the left common carotid artery and the left subclavian artery, seven had the deletion. All 7 also showed thymic hypoplasia and hypocalcemia, together with a nasal voice and peculiar facies. Six of the seven patients had complete deficiency of the muscular outlet septum, with the defect extending to the perimembranous area. Such complete absence of the muscular outlet septum was not present in any of the patients without the deletion.

Conclusions

Interruption of the aortic arch between the left common carotid and the left subclavian artery, absence of the thymus, and complete absence of the muscular outlet septum, were characteristic in Japanese patients with interruption of the aortic arch associated with deletion of chromosome 22q11.

Keywords

Interruption of aortic archchromosome 22q11 deletionDiGeorge syndromeabsent muscular outlet septum
Type
Original Articles
Information
Cardiology in the Young , Volume 9 , Issue 5 , September 1999 , pp. 463 - 467
Copyright
Copyright © Cambridge University Press 1999

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