Introduction: Bicuspid aortic valve (BAV) is the most common congenital heart disease (CHD) with low manifestation in children and with serious heart complications are developing beyond the pediatric age. The immune cells play an important protective role against fibrotic processes in myocardium. Genes of nuclear factor activated T-cells family (NFATC) are regulates transcriptional reactions by activating the Ca-dependent calcineurin pathway and involves both in tumors and heart valves formation as well as in immune response. Polymorphic variants of NFATC1 gene has been revealed in some CHD including BAV.
Objective of the study: Determination of prognostic factors for the development of the aortic valve fibrosis based on the genetic, genealogical and immunological parameters in children with BAV.
Materials and methods. In 41 children with BAV and in 48 children of control group the peak aortic valve pressure gradient and velocity, the diameter of the aortic root (Ao), the ventricular septum depth (VSd) and the left ventricle posterior wall depth (LVPWd), genotyping of rs11665469 NFATC1 gene polymorphism, level of oncologic diseases in probands pedigrees, absolute and relative values of CD25+ activated interleukin-2 receptor-bearing subpopulation of lymphocytes by monoclonal antibodies and calcium level (Ca) were conducted.
Results and discussion. In children with BAV the valve leaflets fibrosis revealed in 41.5% of these patients that is was accompanied to significant dilation of aorta. In BAV patients the increased peak pressure gradient and velocity at valve, VSd and LVPWd thickening were marked. There is prevalence of TT genotype in rs11665469 NFATC1 gene, an increase in relative and absolute CD25+ values, decrease of Ca serum concentration and oncologic diseases accumulation in second generation of the probands relatives were detected.
Conclusion: By sequential logistic regression analysis the prognostic importance of serum Ca levels, peak pressure gradient at valve, and presence of TT genotype in rs11665469 polymorphism NFATC1 gene for the aortal valve fibrosis formation in children with BAV was detected.
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