Microdeletion Study in Children with Selective Congenital Heart Disease; an Iranian Multicenter Study

Objective: determining the frequency of chromosome 22q11.2 microdeletion in children with congenital cardiac conotruncal abnormalities using fluorescence in‐situ hybridization (fish) technique and estimating relation between digeorge syndrome and cardiac conotruncal abnormalities. methods: one-hundred and eighty cases (106 males, 74 females) with selective congenital heart disease (conotruncal abnormalities) referred to the hospitals affiliated to tehran university during 2004-2007 were evaluated by pediatric cardiologists. all patients were assessed for chromosome 22q11.2 microdeletion using fish technique. consequently, patients with 22q microdeletion were studied for t cell abnormalities. findings: median age of the patients at the time of study was 18 months (3d‐16y). the microdeletion of chromosome 22q11.2 was detected in 17 (9.5%) patients with conotruncalabnormalities, including 5 (29.4%) tetralogy of fallot plus supravalvular pulmonary stenosis, 4(23%) truncus arteriosus, 5 (29.4%) pulmonary artesia with ventricular septal defect, 2 (11.8%)co ao+intrrupted aortic arch and one case of valvular pulmonary stenosis. five of uncorrelatedcases had crananiofacial dysmorphism. conclusion: chromosome 22q11.2 microdeletion fish study should be considered in patients with cardiac lesions particularly conotruncal abnormality with or without syndromic problems (craniofacial dysmorphism and developmental delay) to provide an appropriate genetic counseling with more accurate estimation of recurrence risk and ultimately prenatal diagnosis in affected families.