Karunanithi Z, Vestergaard EM, Lauridsen MH. Transposition of the great arteries - a phenotype associated with 16p11.2 duplications? World J Cardiol 2017; 9(12): 848-852 [PMID: 29317992 DOI: 10.4330/wjc.v9.i12.848]
Corresponding Author of This Article
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
Research Domain of This Article
Cardiac & Cardiovascular Systems
Article-Type of This Article
Case Report
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Karunanithi Z, Vestergaard EM, Lauridsen MH. Transposition of the great arteries - a phenotype associated with 16p11.2 duplications? World J Cardiol 2017; 9(12): 848-852 [PMID: 29317992 DOI: 10.4330/wjc.v9.i12.848]
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.
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
ARTICLE HIGHLIGHTS
Case characteristics
Young patient diagnosed with transposition of the great arteries and a 16p11.2 microduplication.
Clinical diagnosis
The child deteriorated after birth, when the arterial duct closed. Echocardiography revealed transposition of the great arteries, pulmonary valve stenosis and ventricular and atrial septal defects. Around school age the child was diagnosed with attention deficit disorder.
Differential diagnosis
Regarding deterioration after birth, differential diagnoses are: Neonatal sepsis, metabolic disease, and other cyanotic heart defects. Neonatal surgery is a risk factor for attention deficit disorder.
Laboratory diagnosis
Chromosomal microarray revealed the 0.5 Mb chromosomal duplication at chromosome 16p11.2.
Imaging diagnosis
The congenital heart diseases were diagnosed using echocardiography.
Treatment
The transposition of the great arteries was treated with an arterial switch operation at birth and the Nikaidoh procedure at the age of 7 years.
Related reports
Transposition of the great arteries is rarely associated with genetic variations. Transposition of the great arteries have once before been associated with a 16p13.11 duplication (Ref. [19]). The authors are the first to report the 16p11.2 microduplication in association with transposition of the great arteries.
Term explanation
Copy number variation: A structural variation in the DNA that results in the cell having an abnormal number of copies of one or more sections of the DNA.
Experiences and lessons
The case document that copy number variations may be of significance in transposition of the great arteries and chromosomal microarray should be considered part of the diagnostic work-up in these patients.
