Cervical Aortic Arch with Aberrant Left Subclavian Artery in DiGeorge Syndrome
Imaging findings
A chest radiograph shows a smooth, well-defined apical mass abutting the spine suggestive of a neurogenic tumor, with the trachea displaced to the left. CT reveals that the apparent apical mass is actually part of a markedly high, contrast-enhancing aortic arch extending into the neck and displacing the trachea, arching leftward, joining an aberrant left subclavian artery, and descending on the left side as a circumflex right cervical aortic arch; there is also rib deformity from a prior thoracotomy at age two for PDA ligation and a bicuspid aortic valve with a significant gradient.
Key takeaways
A markedly high cervical aortic arch can convincingly mimic an apical neurogenic tumor on chest radiograph, and tracheal deviation is the most reliable radiographic clue pointing to a right-sided arch when the arch itself is outside the imaged field of view. This constellation, right cervical aortic arch with aberrant left subclavian artery, prior PDA, and bicuspid aortic valve, is consistent with DiGeorge (22q11 deletion) syndrome.
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