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Abstract
Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. An extreme variant of TOF, pulmonary atresia (PA) occurs with ventricular septal defect (VSD). 22q11.2 deletion is the most frequent associated genetic anomaly in TOF specially PA-VSD variant. Determining the genetic etiology of TOF will not only help in understanding the mechanism of this disease but also in identifying genotype-phenotype correlations. The aim of the present study was to assess the prevalence of 22q11.2 microdeletion among a cohort of 25 non-operated Egyptian patients with the extreme variant of the anatomic spectrum of TOF by fluorescence in situ hybridization (FISH), and to evaluate its effect on cardiac morphology as measured by echocardiography. Clinical examination of the studied patients revealed no congenital anomalies, behavioural or learning disabilities. 22q11.2 microdeletion was detected in 2/25 (8%) of studied patients, both had negative family history of similar disease and negative consanguinity. Both 22q11.2-deleted patients had right-sided aortic arch and patent ductus arteriosus (PDA). Only one 22q11.2-deleted patient had major aortopulmonary collateral arteries (MAPCAs). Nakata index of the two 22q11-deleted patients was 49.51 and 78.51 mm2/m2. Knowledge of the frequency and echocardiographic findings of 22q11.2 deletions might be helpful for prenatal genetic counseling, planning surgical procedures, and determining post-operative management strategies in TOF.