Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-CardioFacial syndrome)

摘要

Deletion 22q11.2 syndrome (Del22) (DiGeorge/Velo-Cardio-Facial syndrome) isudcharacterized by congenital heart defect (CHD), palatal anomalies, facialuddysmorphisms, neonatal hypocalcemia, immune deficit, speech and learninguddisabilities. CHD is present in 75% of patients with Del22. The most frequently seenudcardiac malformations are “conotruncal” defects, including tetralogy of Fallot (TF),udpulmonary atresia with ventricular septal defect (PA-VSD), truncus arteriosus (TA),udinterrupted aortic arch (IAA), and ventricular septal defect (VSD). The study of theudspecific “cardiac phenotype” in patients with Del22 shows that a particular cardiacudanatomy can be identied in these subjects. In addition to CHD, various organudsystems can be involved, so that a multidisciplinary approach is needed in theudevaluation of patients with Del22.