Analysis of molecular genetic causes of congenital heart defects in children

Abstract

In 10–20% of cases, congenital heart defects are caused by chromosomal abnormalities and gene mutation. Purpose. The purpose of the study: analysis of the genetic causes of congenital heart defects in children.Materials and Methods. The analysis of the medical history and the results of Genetics and Molecular Research (GMR) in 15 children with congenital heart defects were carried out.Results. Genome-wide DNA sequencing in patients with congenital heart defects revealed deletion 21q22.3 with duplication 4q31.1 ->qter and pathogenic variants in the genes PPP1CB, FN1, PHF6, CITIED2, ARID2, KMT2A, CIT, JAG1, MED13L, ELN, CHRNA3, KCNK9. Conclusion. In the vast majority of cases in the examined children, congenital heart defects were caused by pathogenic gene variants or chromosomal abnormalities. Congenital heart defects are an absolute indication for cytogenetic and molecular genetic examination.