Double aortic arch with double aneuploidy--rare anomaly in combined Down and Klinefelter syndrome.
A 14-month-old boy with double aneuploidy and a double aortic arch suffered from frequently recurrent severe feeding and respiratory problems. Chromosomal analysis showed a 48,XXY + 21 karyotype: a double aneuploidy of Down syndrome (DS) and Klinefelter syndrome (KS). Only four cases of double aneuploidy (DS + KS) associated with congenital heart defects have been published of which none had a double aortic arch. Our case report should draw attention to the possibility of a double aortic arch in patients with severe feeding and respiratory problems and a double aneuploidy.
Gerretsen
Maaike F
MF
Department of Pediatric Cardiology, VU University Medical Center, Amsterdam, The Netherlands.
Peelen
Willem
W
Rammeloo
Lukas A J
LA
Koolbergen
David R
DR
Hruda
Jaroslav
J
D000015:Abnormalities, Multiple; D000782:Aneuploidy; D001013:Aorta, Thoracic / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000601:surgery; D004314:Down Syndrome / Q000150:complications*; D006344:Heart Septal Defects, Atrial / Q000150:complications; D006801:Humans; D007223:Infant; D007713:Klinefelter Syndrome / Q000150:complications*; D008297:Male; D012131:Respiratory Insufficiency / Q000150:complications; D012141:Respiratory Tract Infections / Q000150:complications; D014057:Tomography, X-Ray Computed