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CASE REPORT
Year : 2018  |  Volume : 8  |  Issue : 1  |  Page : 1

22q11 Deletion Syndrome with Vascular Anomalies


Department of Radiology, Rutgers New Jersey Medical School, Newark, NJ, USA

Correspondence Address:
Miss. Alison Esteva Sanders
11 Old Lane, Montville, NJ 07045
USA
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2156-7514.223733

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DiGeorge syndrome, also termed 22q11.2 deletion syndrome, represents a spectrum of disorders that include thymic aplasia/hypoplasia, parathyroid aplasia/hypoplasia, conotruncal vascular anomalies, and velocardiofacial (Shprintzen) syndrome. This case report describes a novel constellation of cardiovascular anomalies in a 31-year-old patient with 22q11.2 deletion confirmed by fluorescence in situ hybridization at the age of 24. CT angiogram of the thorax revealed a right aortic arch with mirror image branching and unilateral absence of the left pulmonary artery with collateral flow through left intercostal arteries and hypertrophied left bronchial artery. This particular cluster of vascular findings has not been previously described in the imaging literature in a patient with known 22q11.2 deletion.


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