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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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References

1.Kirklin, JW, Barratt-Boyes, BC. Cardiac Surgery. Second edition. Churchill Livingstone, New York, 1993. pp 1263–1326Google ScholarPubMed
2.Castaneda, AR, Jonas, RA, Mayer, JE, Hanley, FL. Cardiac Surgery of the Neonate and Infant. Saunders, Philadelphia, 1994. pp 353–362Google Scholar
3.Van Mierop, LHS, Kutsche, LO. Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor. Am J Cardiol 1986;58: 33–37CrossRefGoogle ScholarPubMed
4.Driscoll, DA, Budarf, ML, Emanuel, BS. A genetic etiology for DiGeorge syndrome: Consistent deletions and micro deletions of 22q11. Am J Hum Genet 1992;50: 924–933.Google Scholar
5.Scott, MA, McLean, MC, Saal, HUM, Spinner, NUB, Emanuel, BS, Driscoll, DA. Velo-cardio-facial syndrome. Am J Dis Child 1993;147: 1212–1216.Google Scholar
6.Levin, MB, Lindsay, EA, Jurecic, V, Goytia, V, Towbin, JA, Baldini, A. A genetic etiology forinterruption of the aortic arch type B. Am J Cardiol 1997;80: 493–497.Google Scholar
7.Momma, K, Kondo, C, Ando, M, Matsuoka, R, Takao, A. Tetralogy of Fallot associated with chromosome 22q11 deletion. Am J Cardiol 1995;76: 618–621.CrossRefGoogle ScholarPubMed
8.Momma, K, Kondo, C, Matsuoka, R. Tetralogy of Fallot associated with pulmonary atresia with chromosome 22q11 deletion. J Am Coll Cardiol 1996;27: 198–202.CrossRefGoogle ScholarPubMed
9.Momma, K, Ando, M, Matsuoka, R. Truncus arteriosus communis associated with chromosome 22q11 deletion. J Am Coll Cardiol 1997; 30: 1067–1071CrossRefGoogle ScholarPubMed
10.Celoria, GC, Patton, RB. Congenital absence of the aortic arch. Am Heart J 1959;58: 407–413CrossRefGoogle ScholarPubMed
11.Takao, A, Ando, M, Cho, K, Kinouchi, A, Murakami, Y. Etiologic categorization of common heart disease. In Van Praagh, R, Takao, A (Eds.). Etiology and Morphogenesis of Congenital Heart Disease. Futura, Mount Kisco, New York, 1980. 253–269.Google Scholar
12.Kinouchi, A, Takao, A. Facies of conotruncal anomaly facies syndrome. Japanese Pediatrics;1976;17: 84 (Japanese).Google Scholar
13.Bockman, DE, Kirby, ML. Dependence of thymus development on derivatives of the neural crest. Science 1984: 223: 498–500.CrossRefGoogle ScholarPubMed
14.Bockman, DE, Redmond, ME, Kirby, ML. Alteration of early vascular development after ablation of neural crest. Anat Rec 1989: 225: 209–217CrossRefGoogle ScholarPubMed
15.Edwards, JE. Congenital malformations of the heart and great vessels. In Gould, SE (ed.). Pathology of the Heart. Second edition, Charles C Thomas Springfield, 1960. pp 260–495Google Scholar
16.Kirby, ML, Waldo, AL. Role of neural crest in congenital heart disease. Circulation 1990; 82: 332–340.CrossRefGoogle ScholarPubMed
17.Phillips, MT, Kirby, ML, Forbes, G. Analysis of cranial neural crest distribution in the developing heart using quail-chick chimeras. Circ Res 1987;60: 27–30CrossRefGoogle ScholarPubMed
18.Waldo, K, Miyagawa-Tomita, S, Kumiski, D, Kirby, ML. Cardiac neural crest cells provide new insight into septation of the cardiac outflow tract: Aortic sac to ventricular septal closure. Dev Biol 1998;196: 129–144CrossRefGoogle ScholarPubMed
19.Bergwerff, M, Verberne, ME, DeRuiter, MC, Poelmann, RE, Gittenberger-de, Groot AC. Neural crest cell contribution to the developing circulatory system. Implications for vascular morphology? Circ Res 1998;82: 221–231CrossRefGoogle Scholar
20.Waldo, KL, Kumiski, D, Kirby, M. Cardiac neural crest is essential for the persistence rather than the formation of an arch artery. Dev Dyn 1996; 205: 281–2923.0.CO;2-E>CrossRefGoogle Scholar
21.Momma, K, Toyama, K, Takao, A, Ando, M, Nakazawa, M, Hirosawa, K, Imai, Y.. Natural history of subarterial infundibular ventricular septal defect. Am Heart J 1984;108: 1312–1317.CrossRefGoogle ScholarPubMed
22.McElhinney, DB, Silverman, NH, Brook, MM, Reddy, VM, Hanley, FL. Rare forms of isolation of the subclavian artery: Echocardiographic diagnosis and surgical considerations. Cardiol Young 1998;8: 344–351CrossRefGoogle ScholarPubMed