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Down syndrome and transposition of the great arteries

Published online by Cambridge University Press:  15 June 2017

Brian McCrossan  and
Nicola McCay
Brian McCrossan
Affiliation:
Paediatric Cardiology Clark Clinic, Royal Belfast Hospital for Sick Children, Belfast, BT12 6BE, Northern Ireland
Nicola McCay*
Affiliation:
Paediatric Cardiology Clark Clinic, Royal Belfast Hospital for Sick Children, Belfast, BT12 6BE, Northern Ireland
*
Correspondence to: N. McCay, MD, MRCPCH, Paediatric Cardiology Clark Clinic, Royal Belfast Hospital for Sick Children, 180-184 Falls Road, Belfast, BT6 0HT, Northern Ireland. Tel: 07793028447; Fax: 02890632816; E-mail: nicmcc29@aol.com
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Abstract

There is an old adage in paediatric cardiology that, despite the high prevalence and wide spectrum of CHD, transposition of the great arteries does not occur in trisomy 21. We present a case of transposition of the great arteries, ventricular septal defect, and pulmonary stenosis in a patient with trisomy 21.

Keywords

Transposition great arteriesDown syndromegenetics
Type
Brief Report
Information
Cardiology in the Young , Volume 27 , Issue 8 , October 2017 , pp. 1630 - 1632
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Copyright
© Cambridge University Press 2017 

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References

1. Ferencz, C, Boughman, JA, Neill, CA, Brenner, JI. Congenital cardiovascular malformations: questions on inheritance. Baltimore-Washington Infant Study Group. J Am Coll Cardiol 1989; 14: 756–763.Google Scholar
2. Unolt, M, Pututto, C, Silvestri, LM. Transposition of great arteries: new insights into the pathogenesis. Front Pediatr 2013; 1: 11.CrossRefGoogle ScholarPubMed
3. Marino, B. Patterns of congenital heart disease and associated cardiac anomalies in children with Down syndrome. In: Marino B, Pueschel SM, (eds). Heart Disease in Persons with Down Syndrome. Baltimore, MD: Paul H Brookes Publishing; 1996: 133–140.Google Scholar
4. Irving, CA, Chaudhari, MP. Cardiovascular abnormalities in Down’s syndrome: spectrum, management and survival over 22 years. Arch Dis Child 2012; 97: 326.Google Scholar
5. Freeman, SB, Bean, LH, Allen, EG, et al. Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project. Genet Med 2008; 10: 173–180.Google Scholar
6. Harris, JA, Francannet, C, Pradat, P, Robert, E. The epidemiology of cardiovascular defects, Part 2: a study based on data from three large registries of congenital malformations. Pediatr Cardiol 2003; 24: 222–235.CrossRefGoogle ScholarPubMed
7. Freeman, S, Taft, LF, Dooley, KJ, et al. Population-based study of congenital heart defects in Down syndrome. Am J Med Genet 1998; 80: 213–217.Google Scholar
8. Patel, A, Costello, JM, Backer, CL, Pasquali, CK. Prevalence of non-cardiac and genetic abnormalities in neonates undergoing cardiac operations: analysis of The Society of Thoracic Surgeons Congenital Heart Surgery database. Ann Thorac Surg 2016; 102: 1607–1614.CrossRefGoogle Scholar
9. Barlow, GM, Chen, XN, Shi, ZY, et al. Down syndrome congenital heart disease: a narrowed region and a candidate gene. Genet Med 2001; 3: 91–101.CrossRefGoogle Scholar
10. Costain, G, Lionel, AC, Ogura, L, et al. Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries. Int J Cardiol 2016; 204: 115–121.Google Scholar