Hostname: page-component-78c5997874-4rdpn Total loading time: 0 Render date: 2024-11-11T07:37:47.287Z Has data issue: false hasContentIssue false
  • English
  • Français

The role of modern imaging techniques in the diagnosis of malposition of the branch pulmonary arteries and possible association with microdeletion 22q11.2

Published online by Cambridge University Press:  26 April 2012

Goran Cuturilo ,
Danijela Drakulic ,
Aleksandar Krstic ,
Marija Gradinac ,
Tamara Ilisic ,
Vojislav Parezanovic ,
Milena Milivojevic ,
Milena Stevanovic  and
Ida Jovanovic
Goran Cuturilo*
Affiliation:
Faculty of Medicine, University of Belgrade, Belgrade, Serbia Department of Clinical Genetics, University Children's Hospital, Belgrade, Serbia
Danijela Drakulic
Affiliation:
Laboratory for Human Molecular Genetics, Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia
Aleksandar Krstic
Affiliation:
Laboratory for Human Molecular Genetics, Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia
Marija Gradinac
Affiliation:
Department of Cardiology, University Children's Hospital, Belgrade, Serbia
Tamara Ilisic
Affiliation:
Department of Cardiology, University Children's Hospital, Belgrade, Serbia
Vojislav Parezanovic
Affiliation:
Faculty of Medicine, University of Belgrade, Belgrade, Serbia Department of Cardiology, University Children's Hospital, Belgrade, Serbia
Milena Milivojevic
Affiliation:
Laboratory for Human Molecular Genetics, Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia
Milena Stevanovic
Affiliation:
Laboratory for Human Molecular Genetics, Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia
Ida Jovanovic
Affiliation:
Faculty of Medicine, University of Belgrade, Belgrade, Serbia Department of Cardiology, University Children's Hospital, Belgrade, Serbia
*
Correspondence to: Assistant Professor G. Cuturilo, MD, PhD, Pediatrician, Clinical Geneticist, Department of Clinical Genetics, University Children's Hospital, Tirsova 10, 11 000 Belgrade, Serbia. Tel: +381 11 20 60 772; Fax: +381 11 2 684 672; E-mail: udkgenetika@udk.bg.ac.rs
Get access Rights & Permissions [Opens in a new window]

Abstract

Malposition of the branch pulmonary arteries is a rare malformation with two forms. In the typical form, pulmonary arteries cross each other as they proceed to their respective lungs. The “lesser form” is characterised by the left pulmonary artery ostium lying directly superior to the ostium of the right pulmonary artery, without crossing of the branch pulmonary arteries. Malposition of the branch pulmonary arteries is often associated with other congenital heart defects and extracardiac anomalies, as well as with 22q11.2 microdeletion. We report three infants with crossed pulmonary arteries and one adolescent with “lesser form” of the malformation. The results suggest that diagnosis of malposition of the branch pulmonary arteries could be challenging if based solely on echocardiography, whereas modern imaging technologies such as contrast computed tomography and magnetic resonance angiography provide reliable establishment of diagnosis. In addition, we performed the first molecular characterisation of the 22q11.2 region among patients with malposition of the branch pulmonary arteries and revealed a 3-megabase deletion in two out of four patients.

Keywords

Cardiaccontrast computed tomographymagnetic resonance angiographymolecular
Type
Original Article
Information
Cardiology in the Young , Volume 23 , Issue 2 , April 2013 , pp. 181 - 188
Copyright
Copyright © Cambridge University Press 2012 

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

1. Jue, KL, Lockman, IA, Edwards, JE. Anomalous origins of pulmonary arteries from pulmonary trunk (crossed pulmonary arteries). Am Heart J 1966; 71: 807–812.Google Scholar
2. Becker, AE, Becker, MJ, Edwards, JE. Malposition of pulmonary arteries (crossed pulmonary arteries) in persistent truncus arteriosus. Am J Roentgenol Radium Ther Nucl Med 1970; 110: 509–514.CrossRefGoogle ScholarPubMed
3. Recto, MR, Parness, IA, Gelb, BD, Lopez, L, Lai, WW. Clinical implications and possible association of malposition of the branch pulmonary arteries with DiGeorge syndrome and microdeletion of chromosomal region 22q11. Am J Cardiol 1997; 80: 1624–1627.Google Scholar
4. Wolf, WJ, Casta, A, Nichols, M. Anomalous origin and malposition of the pulmonary arteries (crisscross pulmonary arteries) associated with complex congenital heart disease. Pediatr Cardiol 1986; 6: 287–291.Google Scholar
5. Wells, TR, Takahashi, M, Landing, BH, et al. Branching patterns of right pulmonary artery in cardiovascular anomalies. Pediatr Pathol 1993; 13: 213–223.Google Scholar
6. Momma, K, Ando, M, Matsuoka, R. Truncus arteriosus communis associated with chromosome 22q11 deletion. J Am Coll Cardiol 1997; 30: 1067–1071.Google Scholar
7. Zimmerman, FJ, Berdusis, K, Wright, KL, Alboliras, ET. Echocardiographic diagnosis of anomalous origins of the pulmonary arteries from the pulmonary trunk (crossed pulmonary arteries). Am Heart J 1997; 133: 257–260.Google Scholar
8. Kim, S, Park, DS. A case of crossed branch pulmonary arteries in Dandy-Walker malformation. Korean Pediatr Soc 2001; 44: 827–831.Google Scholar
9. Siwik, ES, Everman, D, Morrison, S. Images in cardiology: crossed pulmonary arteries, ventricular septal defect, and chromosome 22q11 deletion. Heart 2002; 88: 88.Google Scholar
10. Chaturvedi, R, Mikailian, H, Freedom, RM. Crossed pulmonary arteries in tetralogy of Fallot. Cardiol Young 2005; 15: 537.Google Scholar
11. Park, IS, Ko, JK, Kim, YH, et al. Cardiovascular anomalies in patients with chromosome 22q11.2 deletion: a Korean multicenter study. Int J Cardiol 2007; 114: 230–235.Google Scholar
12. Sivakumar, K, Prasad, R, Francis, E. Crossed pulmonary arteries. Cardiol Young 2007; 17: 572–573.Google Scholar
13. Chen, BB, Hsieh, HJ, Chiu, IS, Chen, SJ, Wu, MH. Crossed pulmonary arteries: report of two cases with emphasis on three-dimensional helical computed tomographic imaging. J Formos Med Assoc 2008; 107: 265–269.Google Scholar
14. Babaoglu, K, Binnetoglu, FK, Altun, G, Donmez, M, Anik, Y. Echocardiographic and three-dimensional computed tomographic diagnosis of crossed pulmonary arteries: report of three cases. Pediatr Cardiol 2010; 31: 720–722.Google Scholar
15. Xiong, Y, Gan, HJ, Liu, T, Tao, F, Wang, HF, Wu, Y. Prenatal diagnosis of crossed pulmonary arteries. Ultrasound Obstet Gynecol 2010; 36: 776–777.Google Scholar
16. Miyahara, Y, Kataoka, K, Kawada, M. Crossed pulmonary arteries associated with interruption of aortic arch on three-dimensional computed tomographic imaging. Ann Thorac Surg 2011; 91: 929.Google Scholar
17. Botto, LD, May, K, Fernhoff, PM, et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 2003; 112: 101–107.Google Scholar
18. Bassett, AS, Chow, EW, Husted, J, et al. Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet A 2005; 138: 307–313.Google Scholar
19. Driscoll, DA. Molecular and genetic aspects of DiGeorge/velocardiofacial syndrome. Methods Mol Med 2006; 126: 43–55.Google Scholar
20. Fernandez, L, Lapunzina, P, Arjona, D, et al. Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome. Clin Genet 2005; 68: 373–378.Google Scholar
21. Lee, ML, Chen, HN, Chen, M, et al. Persistent fifth aortic arch associated with 22q11.2 deletion syndrome. J Formos Med Assoc 2006; 105: 284–289.CrossRefGoogle ScholarPubMed
22. Hu, Y, Zhu, X, Yang, Y, et al. Incidences of micro-deletion/duplication 22q11.2 detected by multiplex ligation-dependent probe amplification in patients with congenital cardiac disease who are scheduled for cardiac surgery. Cardiol Young 2009; 19: 179–184.Google Scholar
23. Greenberg, F, Courtney, KB, Wessels, RA, et al. Prenatal diagnosis of deletion 17p13 associated with DiGeorge anomaly. Am J Med Genet 1988; 31: 1–4.Google Scholar
24. van Essen, AJ, Schoots, CJ, van Lingen, RA, Mourits, MJ, Tuerlings, JH, Leegte, B. Isochromosome 18q in a girl with holoprosencephaly, DiGeorge anomaly, and streak ovaries. Am J Med Genet 1993; 47: 85–88.Google Scholar
25. Daw, SC, Taylor, C, Kraman, M, et al. A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. Nat Genet 1996; 13: 458–460.Google Scholar
26. Lichtner, P, Konig, R, Hasegawa, T, Van Esch, H, Meitinger, T, Schuffenhauer, S. An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. J Med Genet 2000; 37: 33–37.Google Scholar
Supplementary material: File

Cuturilo supplementary material

Appendix

Download Cuturilo supplementary material(File)
File 12.2 KB