Pattern of Congenital Heart Defects in 22q11 Microdeletion Syndrome in India – A Tertiary Care Cardiac Hospital Based Study

Background : To investigate pattern of Congenital Heart Defects in 22q11 microdeletion syndrome. Methods : A retrospective study from year 2006 to 2015 of children with 22q11 microdeletion and pattern of Congenital Heart Defects. Results : Ninety-Six children with Fluorescent in-situ Hybridisation positive for 22q11.2 microdeletion and Congenital Heart Defects were identified. Out of these 96, the most common Congenital Heart Defect variants were Tetralogy of Fallot (39.58%), Pulmonary Atresia with Ventricular Septal Defect (29.16%), and isolated Ventricular Septal Defect (10.4%). Conotruncal defects constituted majority (82%) followed by Ventricular Septal Defects. Two rare associations were: one child with mitral valve prolapse & another with left pulmonary vein stenosis. Conclusion : 22q11.2 microdeletion syndrome is commonly associated with Congenital Heart Defects. Among children with Congenital Heart Defects and 22q11.2 microdeletion, conotruncal malformations were the most common defects followed by Ventricular Septal Defect.