Cardiovascular anomalies in patients with chromosome 22q11.2 deletion: A Korean multicenter study

Background and objectives The 22q11.2 deletion syndrome is reported with increasing frequency worldwide, and its clinical manifestations, including cardiovascular anomalies, appear to be more diverse than previously reported. The aim of this study was to determine the incidence and the pattern of cardiovascular anomalies in Korean patients with 22q11 deletion. Methods This study involved six Korean institutions. We reviewed the clinical records of patients and confirmed the presence of 22q11.2 deletion by fluorescent in situ hybridization (FISH). Results A total of 222 patients were examined and 190 (85.6%) patients had the cardiovascular abnormalities: 63.2% tetralogy of Fallot (TOF), 20.5% isolated ventricular septal defects (VSDs), 5.3% interrupted aortic arch type B (IAA B), 3.6% double outlet right ventricle (DORV), 3.6% atrial septal defects (ASDs) and 1.7% truncus arteriosus (TA). Of 168 patients with VSD, 69.6% had the perimembranous type, 11.9% the total conal defect type, 6.5% the subarterial type, 4.2% the muscular type and 1.2% the mixed type. A right aortic arch was observed in 50% of patients, and an aberrant subclavian artery was significantly more common with a right (30.9%) than a left (18.3%) aortic arch (p < 0.05). Conclusions A wide variety of cardiovascular anomalies were present in Korean patients with the 22q11.2 deletion.