Absent Aortic Valve in DiGeorge Syndrome

Bertsch, E. C.; Minturn, L.; Gotteiner, N. L.; Ernst, L. M.

Pediatr Dev Pathol. 2015 Aug 1; 19(1):61-3


A 20-week-old fetus with the 22q11.2 deletion characteristic of DiGeorge syndrome is described with vertebral segmentation abnormalities and complex cardiovascular anomalies including an absent aortic valve. This is only the second known case of absent aortic valve in association with DiGeorge syndrome. We discuss the association of absent aortic valve with other conotruncal defects and the utility of fetal echocardiography in the diagnosis of DiGeorge syndrome.

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