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Tetralogy of Fallot with coarctation of the aorta: a newly recognised developmental and anatomic syndrome

Published online by Cambridge University Press:  26 March 2014

Elodie Perdreau ,
Lucile Houyel  and
Alban-Elouen Baruteau
Elodie Perdreau*
Affiliation:
Service des Cardiopathies Congénitales, Hôpital du Haut-Lévêque, CHU de Bordeaux, Pessac, France
Lucile Houyel
Affiliation:
Service de Chirurgie des Cardiopathies Congénitales, Centre Chirurgical Marie-Lannelongue-M3C, Université Paris-Sud, Le Plessis-Robinson, France
Alban-Elouen Baruteau
Affiliation:
Service de Chirurgie des Cardiopathies Congénitales, Centre Chirurgical Marie-Lannelongue-M3C, Université Paris-Sud, Le Plessis-Robinson, France
*
Correspondence: Dr E. Perdreau, Secrétariat du Pr Thambo, Hôpital du Haut-Lévêque, Avenue de Magellan, 33604 Pessac, France. Tel: +00 33 6 01 49 00 88; Fax: +00 33 1 40 94 88 67; E-mail: elop85@yahoo.fr
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Abstract

Tetralogy of Fallot and coarctation of the aorta is an exceptional association. We report here four cases of infants referred for tetralogy of Fallot with or without pulmonary atresia associated with aortic coarctation from 1974 to 2013. All had a right aortic arch, and the coarctation was abnormally situated between the right common carotid and the right subclavian arteries. In all, two infants had an abnormal left subclavian artery and one child had DiGeorge syndrome. All underwent staged surgical repair of the left and right-sided obstructions. A review of the literature shows two types of coarctation in this context. In left aortic arch, coarctation is situated distal to the left subclavian artery. In right aortic arch, coarctation is distal to the right common carotid artery, mirror-image of interrupted left aortic arch type B, associated with anomalies of the branches of the aorta, and should be considered a complex anomaly of aortic arches in the setting of an outflow tract defect due to abnormal migration of cardiac neural crest cells. Screening for this unusual association is critical in the initial assessment of all patients with tetralogy of Fallot.

Keywords

Tetralogy of Fallotcoarctation of the aortaright aortic archcardiac neural crest cells migration
Type
Original Articles
Information
Cardiology in the Young , Volume 24 , Issue 4 , August 2014 , pp. 714 - 720
Copyright
© Cambridge University Press 2014 

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References

1. Rey, C, Coeurderoy, A, Dupuis, C. Coarctation of the aorta and Fallot’s tetralogy. A propos of 2 cases. Arch Mal Cœur 1984; 77: 526–533.Google Scholar
2. Changela, V, John, C, Maheshwari, S. Unusual cardiac associations with tetralogy of Fallot – a descriptive study. Pediatr Cardiol 2010; 31: 785–791.Google Scholar
3. Iannucci, G, Mahle, W, Clabby, M. Coarctation of the aorta in the setting of tetralogy of Fallot: an uncommon cause of myocardial dysfunction. Cardiol Young 2013; 23: 617–619.Google Scholar
4. Freedom, R, Benson, L, Mikailian, H. Aortic coarctation in an infant with tetralogy and pulmonary atresia. Cardiol Young 2005; 15: 667–668.Google Scholar
5. Yip, RCW, Deekollu, D, Arnold, R. Coarctation co-existing with tetralogy of Fallot and pulmonary atresia. Cardiol Young 2000; 11: 88–90.Google Scholar
6. Bullaboy, CA, Derkac, WM, Johnson, DH, Jennings, RB Jr. Tetralogy of Fallot and coarctation of the aorta: successful repair in an infant. Ann Thorac Surg 1984; 38: 400–401.Google Scholar
7. Günthard, J, Murdison, KA, Wagner, HR, Norwood, WI Jr. Tetralogy of Fallot and coarctation of the aorta: a rare combination and its clinical implications. Pediatr Cardiol 1992; 13: 37–40.Google Scholar
8. Momma, K. Coarctation with tetralogy and pulmonary atresia. Cardiol Young 2001; 11: 478.Google Scholar
9. Elami, A, AJJT, Reinb, Premingerb, TJ, Milgalter, E. Tetralogy of Fallot, absent pulmonary valve, partial anomalous pulmonary venous return and coarctation of the aorta. Int J Cardiol 1995; 52: 203–206.Google Scholar
10. Morales, D, Dibardino, DJ, Vick, W, Fraser, CD, McKenzie, ED. Tetralogy of Fallot and hypoplastic aortic arch: a novel perspective. J Thorac Cardiovasc Surg 2005; 129: 1448–1449.CrossRefGoogle ScholarPubMed
11. Phillips, HM, Mahendran, P, Singh, E, Anderson, RH, Chaudhry, B, Henderson, DJ. Neural crest cells are required for correct positioning of the developing outflow cushions and pattern the arterial valve leaflets. Cardiovasc Res 2013; 99: 452–460.Google Scholar
12. Anderson, RH, Chaudhry, B, Mohun, TJ, et al. Normal and abnormal development of the intrapericardial arterial trunks in humans and mice. Cardiovasc Res 2012; 95: 108–115.Google Scholar
13. Rauch, R, Rauch, A, Koch, A, et al. Laterality of the aortic arch and anomalies of the subclavian artery – reliable indicators for 22q11.2 deletion syndromes? Eur J Pediatr 2004; 163: 642–645.Google ScholarPubMed
14. McElhinney, DB, Clark, BJ, Weinberg, PM, et al. Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching. J Am Coll Cardiol 2001; 37: 2114–2119.Google Scholar
15. McElhinney, DB, Tworetzky, W, Hanley, FL, Rudolph, AM. Congenital obstructive lesions of the right aortic arch. Ann Thorac Surg 1999; 67: 1194–1202.Google Scholar
16. Celoria, GC, Patton, RB. Congenital absence of the aortic arch. Am Heart J 1959; 58: 407–413.Google Scholar
17. Van Mierop, LHS, Kutsche, LM. Interruption of the aortic arch and coarctation of the aorta: pathogenic relations. Am J Cardiol 1984; 54: 829–834.CrossRefGoogle Scholar
18. Rudolph, AM, Heymann, MA, Spitznas, U. Hemodynamic considerations in development of narrowing of the aorta. Am J Cardiol 1972; 30: 514–515.CrossRefGoogle ScholarPubMed
19. Yashiro, K, Shiratori, H, Hamada, H. Hemodynamics determined by a genetic programme govern asymmetric development of the aortic arch. Nature 2007; 450: 285–289.CrossRefGoogle ScholarPubMed
20. Hutson, MR, Kirby, ML. Seminars in cell developmental biology model systems for the study of heart development and disease cardiac neural crest and conotroncal malformations. Semin Cell Dev Biol 2007; 18: 101–110.Google Scholar
21. Makki, N, Capecchi, MR. Cardiovascular defects in a mouse model of HOXA 1 syndrome. Hum Mol Genet 2012; 21: 26–31.Google Scholar