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

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.

Automated summary

We reviewed patients with chromosome 22q11.2 deletion syndrome and analyzed cardiovascular findings in live-born patients in Nevada between March 2007 and September 2020. Out of 60 identified patients, 53% were female and 80% had conotruncal abnormalities. Males were statistically more likely to have a right aortic arch than females.