Persistent fifth aortic arch associated with 22q11.2 deletion syndrome

Journal of the Formosan Medical Association = Taiwan Yi Zhi
Meng-Luen LeeIng-Sh Chiu

Abstract

Chromosome 22q11.2 deletion is frequently associated with conotruncal malformations and aortic arch anomalies. This study investigated the association of chromosome 22q11.2 deletion with clinical manifestations in four pediatric patients with persistent fifth aortic arch. Four patients with persistent fifth aortic arch treated between July 1997 and June 2004 were included in this retrospective study. There were two girls and two boys, aged 2 days to 11.3 years, with persistent fifth aortic arch and cardiac conotruncal malformations. Chart recordings, plain chest films, two-dimensional and Doppler echocardiograms, cardiac catheterization with angiograms, surgical findings, and cytogenetic study were analyzed. Clinically, all four patients had the cardinal phenotypic features of 22q11.2 deletion syndrome, including cardiovascular malformations (conotruncal malformations and aortic arch anomalies), abnormal facies, thymic hypoplasia, canopy anomaly of the palate (high-arched palate, rather than cleft palate), and hypocalcemia (or hypoparathyroidism). All four patients were confirmed to have chromosome 22q11.2 deletion. Congenital conotruncal malformations, including tetralogy of Fallot with pulmonary atresia or stenosis, and aorti...Continue Reading

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Citations

Oct 30, 2014·Cardiology in the Young·Saurabh K GuptaRobert H Anderson
Aug 31, 2017·Cardiology in the Young·David F A LloydAlan G Magee

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