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DiGeorge Syndrome with Right Cervical Aortic Arch and Patent Ductus Arteriosus

Imaging findings

Cardiac MRI in an infant shows absence of normal thymic tissue along with a high-riding right aortic arch that crosses over and descends on the left, consistent with a right cervical aortic arch. A patent foramen ovale results in disproportionate flow to the descending relative to the ascending aorta, and a patent ductus arteriosus is identified connecting the arch to the pulmonary arteries. Four-dimensional flow imaging confirms a small amount of antegrade flow through the arch and demonstrates flow into the pulmonary arteries through the ductus. Chest radiograph shows a high-riding aortic contour, a prominent descending aorta, and absence of the normal thymic silhouette.

Key takeaways

The combination of a right cervical aortic arch, patent ductus arteriosus, and absent thymus is characteristic of DiGeorge syndrome, and four-dimensional flow MRI can be used to characterize the hemodynamics of these associated vascular shunts non-invasively.

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