Aortic Arch Laterality in Chromosome 22q11.2 Deletion Syndrome: Male-Female Difference

Author:

Evans William N.12,Acherman Ruben J.12,Restrepo Humberto12ORCID

Affiliation:

1. Children’s Heart Center Nevada, Las Vegas, NV, USA

2. Division of Pediatric Cardiology, Department of Pediatrics, Kirk Kerkorian School of Medicine, University of Nevada, Las Vegas, Las Vegas, NV, USA

Abstract

We reviewed patients with chromosome 22q11.2 deletion syndrome. We analyzed cardiovascular findings in patients with confirmed chromosome 22q11.2 deletion syndrome live-born in Nevada between March 2007 and September 2020. We identified 60 patients. Of the 60 patients, 32 (53%) were female. Of the 60, 48 (80%) had a conotruncal abnormality (including isolated vascular rings): 23 of 32 (72%) for females versus 25 of 28 (89%) for males, P = .41. However, 11 (34%) of 32 females had a right aortic arch; whereas, 21 (75%) of 28 males had a right aortic arch, P = .007. In conclusion, in our patient cohort, we found conotruncal malformations were common. However, we noted males were statistically more likely to have a right aortic arch than females. To the best of our knowledge, this male-female aortic arch laterality difference in patients with chromosome 22q11.2 deletion syndrome has not been previously noted.

Publisher

SAGE Publications

Subject

Pediatrics, Perinatology and Child Health

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