22q11 Deletion Syndrome with Vascular Anomalies

J Clin Imaging Sci. 2018 Jan 22;8:1. doi: 10.4103/jcis.JCIS_66_17. eCollection 2018.


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.

Keywords: 22q11 deletion syndrome; DiGeorge syndrome; proximal interruption of the left pulmonary artery; right aortic arch with mirror image branching.

Publication types

  • Case Reports