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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: [email protected]
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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 

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