22q11 Deletion Syndrome with Vascular Anomalies
نویسندگان
چکیده
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.
منابع مشابه
Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age.
OBJECTIVE Cardiovascular anomalies are present in 75% to 80% of patients with a chromosome 22q11 deletion. In the majority of cases, the cardiovascular defect becomes evident in the neonatal period and is often the initial manifestation of the chromosome 22q11 deletion syndrome. However, a 22q11 deletion may also be associated with cardiovascular defects that are less obvious, such as a vascula...
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