Case Report
Copyright ©The Author(s) 2017. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Cardiol. Dec 26, 2017; 9(12): 848-852
Published online Dec 26, 2017. doi: 10.4330/wjc.v9.i12.848
Transposition of the great arteries - a phenotype associated with 16p11.2 duplications?
Zarmiga Karunanithi, Else Marie Vestergaard, Mette H Lauridsen
Zarmiga Karunanithi, Department of Cardiothoracic and Vascular Surgery, Aarhus University Hospital, Aarhus N 8200, Denmark
Else Marie Vestergaard, Department of Clinical Genetics, Aarhus University Hospital, Aarhus N 8200, Denmark
Mette H Lauridsen, Department of Pediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus N 8200, Denmark
Author contributions: Lauridsen MH conducted the primary research, selected the patients, obtained informed consent from the parents and children, retrieved the blood samples, and communicated the genetic results to the families; Vestergaard EM performed and interpreted the chromosomal microarray analyses; Karunanithi Z collected the patient information from medical records; Karunanithi Z, Vestergaard EM and Lauridsen MH collectively summarized the data and wrote the manuscript.
Supported by The Helga and Peter Kornings Fund.
Institutional review board statement: Permission and approval for this study were obtained from both the Central Denmark Region Committees on Health Ethics (1-10-72-290-13) and the Danish Data Protection Agency (journal number 2007-58-0010).
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: None.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Mette H Lauridsen, MD, Department of Pediatrics and Adolescent Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, Aarhus N 8200, Denmark. lauridsen.mette@auh.rm.dk
Telephone: +45-61716847 Fax: + 45-78451750
Received: March 23, 2017
Peer-review started: March 24, 2017
First decision: July 17, 2017
Revised: August 28, 2017
Accepted: September 12, 2017
Article in press: September 12, 2017
Published online: December 26, 2017
Processing time: 273 Days and 6.5 Hours
Core Tip

Core tip: Rare copy number variations may be of significance to the aetiology of transposition of the great arteries. This paper reports, for the first time, the finding of a 16p11.2 microduplication in a patient with transposition of the great arteries. Recognizing a possible genetic association to transposition of the great arteries will spur investigations into associated phenotypic effects such as developmental delays, thus allowing for earlier identification and treatment. We recommend that chromosomal microarray be considered part of the diagnostic work-up in patients with transposition of the great arteries.