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Aberrant subclavian artery origin in tetralogy of Fallot with pulmonary stenosis is associated with chromosomal or genetic abnormality

Published online by Cambridge University Press:  04 June 2013

Nilesh Oswal ,
Georgi Christov ,
Shankar Sridharan ,
Sachin Khambadkone ,
Catherine Bull  and
Ian Sullivan
Nilesh Oswal
Affiliation:
Department of Paediatric Cardiology, Cardiothoracic Unit, Great Ormond Street Hospital NHS Trust, London, United Kingdom
Georgi Christov
Affiliation:
Department of Paediatric Cardiology, Cardiothoracic Unit, Great Ormond Street Hospital NHS Trust, London, United Kingdom
Shankar Sridharan
Affiliation:
Department of Paediatric Cardiology, Cardiothoracic Unit, Great Ormond Street Hospital NHS Trust, London, United Kingdom
Sachin Khambadkone
Affiliation:
Department of Paediatric Cardiology, Cardiothoracic Unit, Great Ormond Street Hospital NHS Trust, London, United Kingdom
Catherine Bull
Affiliation:
Department of Paediatric Cardiology, Cardiothoracic Unit, Great Ormond Street Hospital NHS Trust, London, United Kingdom
Ian Sullivan*
Affiliation:
Department of Paediatric Cardiology, Cardiothoracic Unit, Great Ormond Street Hospital NHS Trust, London, United Kingdom
*
Correspondence to: Dr Ian Sullivan, FRACP, Cardiothoracic Unit, Great Ormond Street Hospital NHS Trust, London WC1N 3JH, United Kingdom. Tel: +44 (0)20 7405 9200, ext 8845; Fax: +44 (0)20 7829 8673; E-mail: [email protected]
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Abstract

We determined the relationship between aortic arch anatomy in tetralogy of Fallot with pulmonary stenosis and chromosomal or genetic abnormality, by performing analysis of 257 consecutive patients undergoing surgical repair from January, 2003 to March, 2011. Chromosomal or genetic abnormality was identified in 49 of the 257 (19%) patients. These included trisomy 21 (n = 14); chromosome 22q11.2 deletion (n = 16); other chromosomal abnormalities (n = 9); CHARGE (n = 2); Pierre Robin (n = 2); and Kabuki, Alagille, Holt–Oram, Kaufman McKusick, Goldenhar, and PHACE (n = 1 each). Aortic anatomy was classified as left arch with normal branching, right arch with mirror image branching, left arch with aberrant right subclavian artery, or right arch with aberrant left subclavian artery. Associated syndromes occurred in 33 of 203 (16%) patients with left arch and normal branching (odds ratio 1); three of 36 (8%) patients with right arch and mirror image branching (odds ratio 0.4, 95% confidence interval 0.1–1.6); seven of eight (88%) patients with left arch and aberrant right subclavian artery (odds ratio 36, 95% confidence interval 4–302); and six of 10 (60%) patients with right arch and aberrant left subclavian artery (odds ratio 8, 95% confidence interval 2–26). Syndromes were present in 13 of 18 (72%) patients with either right or left aberrant subclavian artery (odds ratio 15, 95% confidence interval 4–45). Syndromes in patients with an aberrant subclavian artery included trisomy 21 (n = 4); chromosome 22q11.2 deletion (n = 5); and Holt–Oram, PHACE, CHARGE, and chromosome 18p deletion (n = 1 each). Aberrant right or left subclavian artery in tetralogy of Fallot with pulmonary stenosis is associated with an increased incidence of chromosomal or genetic abnormality, whereas right aortic arch with mirror image branching is not. The assessment of aortic arch anatomy at prenatal diagnosis can assist counselling.

Keywords

TetralogyFallotaberrant subclavianchromosomegenetic
Type
Original Articles
Information
Cardiology in the Young , Volume 24 , Issue 3 , June 2014 , pp. 478 - 484
Copyright
Copyright © Cambridge University Press 2013 

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References

1. Rauch, R, Hofbeck, M, Zweier, C, et al. Comprehensive genotype–phenotype analysis in 230 patients with tetralogy of Fallot. J Med Genet 2010; 47: 321–331.CrossRefGoogle ScholarPubMed
2. Poon, LC, Huggon, IC, Zidere, V, Allan, LD. Tetralogy of Fallot in the fetus in the current era. Ultrasound Obstet Gynecol 2007; 29: 625–627.CrossRefGoogle ScholarPubMed
3. Bull, C, on behalf of the British Paediatric Cardiology Association. Current and potential impact of fetal diagnosis on prevalence and spectrum of serious congenital heart disease at term in the UK. Lancet 1999; 354: 1242–1247.Google Scholar
4. Bailliard, F, Anderson, RH. Tetralogy of Fallot. Orphanet J Rare Dis 2009; 4: 2, doi:10.1186/1750-1172-4-2.Google Scholar
5. Marino, B, Digilio, MC, Toscano, A, et al. Anatomic patterns of conotruncal defects associated with deletion 22q11. Genet Med 2001; 3: 45–48.Google Scholar
6. Samanek, M, Slavik, Z, Zborilova, B, Hrobonova, V, Voriskova, M, Skovranek, J. Prevalence, treatment, and outcome of heart disease in live-born children: a prospective analysis of 91,823 live-born children. Pediatr Cardiol 1989; 10: 205–211.Google Scholar
7. Chessa, M, Butera, G, Bonhoeffer, P, et al. Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in tetralogy of Fallot and pulmonary atresia-ventricular septal defect. Heart 1998; 79: 186–190.CrossRefGoogle ScholarPubMed
8. Lammer, EJ, Chak, JS, Iovannisci, DM, et al. Chromosomal abnormalities among children born with conotruncal cardiac defects. Birth Defects Res A Clin Mol Teratol 2009; 85: 30–35.Google Scholar
9. Zapata, H, Edwards, JE, Titus, JL. Aberrant right subclavian artery with left aortic arch: associated cardiac anomalies. Pediatr Cardiol 1993; 14: 159–161.Google Scholar
10. Hara, M, Satake, M, Itoh, M, et al. Radiographic findings of aberrant right subclavian artery initially depicted on CT. Radiat Med 2003; 21: 161–165.Google ScholarPubMed
11. Borenstein, M, Minekawa, R, Zidere, V, Nicolaides, KH, Allan, LD. Aberrant right subclavian artery at 16 to 23 + 6 weeks of gestation: a marker for chromosomal abnormality. Ultrasound Obstet Gynecol 2010; 36: 548–552.Google Scholar
12. Chaoui, R, Rake, A, Heling, KS. Aortic arch with four vessels: aberrant right subclavian artery. Ultrasound Obstet Gynecol 2008; 31: 115–117.CrossRefGoogle ScholarPubMed
13. Zalel, Y, Achiron, R, Yagel, S, Kivilevitch, Z. Fetal aberrant right subclavian artery in normal and Down syndrome fetuses. Ultrasound Obstet Gynecol 2008; 31: 25–29.CrossRefGoogle ScholarPubMed
14. Chaoui, R, Heling, KS, Sarioglu, N, Schwabe, M, Dankof, A, Bollmann, R. Aberrant right subclavian artery as a new cardiac sign in second- and third-trimester fetuses with Down syndrome. Am J Obstet Gynecol 2005; 192: 257–263.CrossRefGoogle ScholarPubMed
15. Borenstein, M, Cavoretto, P, Allan, L, Huggon, I, Nicolaides, KH. Aberrant right subclavian artery at 11 + 0 to 13 + 6 weeks of gestation in chromosomally normal and abnormal fetuses. Ultrasound Obstet Gynecol 2008; 31: 20–24.Google Scholar
16. McElhinney, DB, Clark, BJ III, 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.CrossRefGoogle ScholarPubMed
17. Zidere, V, Tsapakis, EG, Huggon, IC, Allan, LD. Right aortic arch in the fetus. Ultrasound Obstet Gynecol 2006; 28: 876–881.CrossRefGoogle ScholarPubMed
18. Momma, K. Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome. Am J Cardiol 2010; 105: 1617–1624.Google Scholar