CNVs в нозологической структуре врожденных пороков сердца

Abstract

Copy number variations (CNVs) are one of the genetic causes of congenital heart disease. Existing views on CNVs in the etiology of the congenital heart disease (CHD) does not fully explain the formation of a specific heart defect. The obtained knowledge will be directed to the development of new approaches for improving the diagnosis of genomic imbalance in patients with CHD. This study aim at investigating the presence of pathogenetically significant CNVs in the nosological structure of CHD. Materials and methods. 31 children with CHD, combined with extracardiac pathology were included in the study. Samples of DNA were analyzed using high-density DNA microarrays SurePrint G3 Human Genome CGH + SNP Microarray Kit, 8 х 60K (Agilent Technologies, USA). ICD-11 was used to describe the nosological structure. Results. Pathogenic and likely pathogenic CNVs were detected in 32% (10/31) of patients with CHD and extracardiac pathology. CNVs were identified in the categories of CHD: anomaly of a ventricle or the ventricular septum; anomaly of atrial septum; anomaly of a ventriculo-arterial valve or adjacent regions; anomaly of the mediastinal vein. Conclusions. The detection of pathogenic or likely pathogenic CNVs is more often associated with conotruncal, septal or complex heart defects.