Cardiac Evaluation of Patients With 22Q11.2 Duplications

Background: The 22q11.2 duplication syndrome (22q11.2DupS) has been diagnosed more frequently with the advent of microarray technology. Given that it disrupts the same region as the more familiar 22q11.2 deletion syndrome (22q11.2DS), patients with the duplication have been referred for similar organ system involvement but appear to display a distinct variable phenotype. To better describe the cardiac manifestations of the 22q11.2DupS, we performed a detailed review of a large 22q11.2DupS cohort in order to: (1) detail the cardiac phenotype, (2) estimate the prevalence of aortic arch anomalies, and (3) …