Genetic testing for coarctation of aorta

Open access


Coarctation of the aorta (CoA) is an inherited narrowing of the proximal descending thoracic aorta. Histological features include localized medial thickening and infolding with superimposed neointimal tissue. CoA is diagnosed by detection of a murmur or hypertension during routine examination. Typical clinical features are delayed or absent femoral pulses and difference in blood pressure between the arm and legs. These symptoms may appear in the first weeks of life or after the neonatal period. CoA accounts for 4-6% of all congenital heart defects and has a reported prevalence of about 4 per 10,000 live births. It is more common in males than females (59% vs 41%). This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

1. LaDisa JF, Bozdag S, Olson J, Ramchandran R, Kersten JR, Eddinger TJ. Gene Expression in Experimental Aortic Coarctation and Repair: Candidate Genes for Therapeutic Intervention. Esteban FJ, ed. PLoS ONE 2015; 10(7): e0133356.

2. Usman MH, Rengifo-Moreno P, Janzer SF, Inglessis-Azuaje I, Witzke-Sanz C. Coarctation of the aorta: management, indications for intervention, and advances in care. Curr Treat Options Cardiovasc Med 2014; 16(10): 341.

3. Folger GM Jr, Stein PD. Bicuspid aortic valve morphology when associated with coarctation of the aorta. Cathet Cardiovasc Diagn 1984; 10(1): 17-25.

4. Shone JD, Sellers RD, Anderson RC, Adams P Jr, Lillehei CW, Edwards JE. The developmental complex of “parachute mitral valve,” supravalvular ring of left atrium, subaortic stenosis, and coarctation of aorta. Am J Cardiol 1963; 11: 714-25.

5. Machii M, Becker AE. Nature of coarctation in hypoplastic left heart syndrome. Ann Thorac Surg 1995; 59(6): 1491-94.

6. Rao PS. Coarctation of the aorta. Curr Cardiol Rep 2005; 7(6): 425-34.

7. Rao PS. Balloon angioplasty of native aortic coarctation. J Am Coll Cardiol 1992; 20(3): 750-51.

8. Salahuddin N, Wilson AD, Rao PS. An unusual presentation of coarctation of the aorta in infancy: role of balloon angioplasty in the critically ill infant. Am Heart J 1991; 122(6): 1772-75.

9. Boon AR, Roberts DF. A family study of coarctation of the aorta. Journal of Medical Genetics 1976; 13(6): 420-33.

10. Reller MD, Strickland MJ, Riehle-Colarusso T, Mahle WT, Correa A. Prevalence of congenital heart defects in metropolitan Atlanta, 1998-2005. J Pediatr 2008; 153(6): 807-13.

11. Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol 2002; 39(12): 1890-00.

12. Fyler DC, Buckley LP, Hellenbrand WE, Cohn, H.E., Kirklin, J.W., Nadas, A.S. Report of the New England Regional Infant Cardiac Program. Pediatrics 1980; 65(2 Pt 2): 375-61.

13. Moosmann J, Uebe S, Dittrich S, Rüffer A, Ekici AB, Toka O. Novel loci for non-syndromic coarctation of the aorta in sporadic and familial cases. PLoS One 2015; 10(5): e0126873

14. Beekman RH, Robinow M. Coarctation of the aorta inherited as an autosomal dominant trait. Am J Cardiol 1985; 56(12): 818-19.

15. Freylikhman O, Tatarinova T, Smolina N, Zhuk S, Klyushina A, Kiselev A, Moiseeva O, Sjoberg G, Malashicheva A, Kostareva A. Variants in the NOTCH1 gene in patients with aortic coarctation. Congenit Heart Dis 2014; 9(5): 391-96.

16. Lalani SR, Ware SM, Wang X, Zapata G, Tian Q, Franco LM, Jiang Z, Bucasas K, Scott DA, Campeau PM, Hanchard N, Umaña L, Cast A, Patel A, Cheung SW, McBride KL, Bray M, Craig Chinault A, Boggs BA, Huang M, Baker MR, Hamilton S, Towbin J, Jefferies JL, Fernbach SD, Potocki L, Belmont JW. MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development. Hum Mol Genet 2013; 22(21): 4339-48.

17. Chen B, Gagnon M, Shahangian S, Anderson NL, Howerton DA, Boone JD; Centers for Disease Control and Prevention (CDC). Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions. MMWR Recomm Rep 2009; 58(RR-6): 1-37.

Journal Information


All Time Past Year Past 30 Days
Abstract Views 0 0 0
Full Text Views 69 69 20
PDF Downloads 29 29 10