Determination of microdeletions in region 22q11 in patients affected with Tetralogy of Fallot attended in the Infantile Cardio Foundation.

The aim of this study is to determine the frequency of 22q11.2 microdeletions in patients diagnosed with tetralogy of Fallot receiving care at Fundación Cardioinfantil. Molecular cytogenetic analyses will be performed using fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA), and/or chromosomal microarray analysis (CMA) to identify pathogenic structural variants associated with this congenital heart defect. In addition, the study will evaluate the association between 22q11.2 microdeletions and patients' clinical presentation, phenotypic characteristics, and surgical outcomes. The findings are expected to improve the molecular diagnosis of tetralogy of Fallot, enhance genetic counseling, and support the implementation of precision medicine strategies for the comprehensive management of patients with 22q11.2 deletion syndrome and related congenital heart diseases.