Published online Dec 26, 2017. doi: 10.4330/wjc.v9.i12.848
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
Young patient diagnosed with transposition of the great arteries and a 16p11.2 microduplication.
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.
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.
Chromosomal microarray revealed the 0.5 Mb chromosomal duplication at chromosome 16p11.2.
The congenital heart diseases were diagnosed using echocardiography.
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.
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.
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.
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.