Kamenshchyk Andrii, Gonchar Margaryta, Oksenych Valentyn, Kamyshnyi Aleksandr
Department of Hospital Pediatrics, Zaporizhzhya State Medical and Pharmaceutical University, 69035 Zaporizhzhya, Ukraine.
First Department of Pediatrics and Neonatology, Kharkiv National Medical University, 61000 Kharkiv, Ukraine.
Children (Basel). 2023 Aug 23;10(9):1434. doi: 10.3390/children10091434.
The role of NFATC gene expression in bicuspid aortic valve (BAV) progression is not fully understood. The aim of this study is to determine the significance of NFATC1 and NFATC4 gene expression for myocardial changes in children with BAV.
In 47 children with BAV, the standard Doppler echocardiographic characteristics were detected, and the expression of the NFATC1 and NFATC4 genes was studied.
Posterior wall thickness in diastole (PWTd) and aortic valve peak pressure gradient (AoPPG) in BAV patients were significantly higher compared to healthy controls (PWTd median (min-max), 9 (7-10) mm vs. 7 (6-8) mm; and AoPPG median (min-max), 7.79 (2.98-15.09) mm Hg vs. 2.94 (2.42-3.72) mm Hg). The expression of the NFATC1 gene in BAV children was significantly higher compared to NFATC4 (NFATC1 median (min-max); 70.88 (8.79-106.51) e.u. vs. 7.72 (1.74-22.67) e.u., respectively < 0.05). A significant correlation of NFATC1 expression with Ao found (R = +0.53, < 0.05). In BAV patients with PWTd > 8 mm and Ao > 21 mm the NFATC1 expression was significantly higher compared to those with PWTd ≤ 8 mm and Ao ≤ 21 mm (NFATC1 median (min-max); 45.49 (5.01-101.52) e.u. vs. 15.53 (2.36-44.40) e.u., < 0.05 and 81.11 (20.27-101.10) e.u. mm vs. 12.16 (2.40-45.49) e.u., < 0.05, respectively).
In children with BAV the high expression of the NFATC1 calcineurin signaling pathway gene is associated with elevated PWTd and Ao.
NFATC基因表达在二叶式主动脉瓣（BAV）进展中的作用尚未完全明确。本研究旨在确定NFATC1和NFATC4基因表达对于BAV患儿心肌变化的意义。
对47例BAV患儿检测标准多普勒超声心动图特征，并研究NFATC1和NFATC4基因的表达。
与健康对照组相比，BAV患者的舒张末期后壁厚度（PWTd）和主动脉瓣峰值压力梯度（AoPPG）显著更高（PWTd中位数（最小值 - 最大值），9（7 - 10）mm对7（6 - 8）mm；AoPPG中位数（最小值 - 最大值），7.79（2.98 - 15.09）mmHg对2.94（2.42 - 3.72）mmHg）。BAV患儿中NFATC1基因的表达显著高于NFATC4（NFATC1中位数（最小值 - 最大值）；分别为70.88（8.79 - 106.51）e.u.对7.72（1.74 - 22.67）e.u.，P < 0.05）。发现NFATC1表达与Ao存在显著相关性（R = +0.53，P < 0.05）。在PWTd > 8 mm且Ao > 21 mm的BAV患者中，NFATC1表达显著高于PWTd≤8 mm且Ao≤21 mm的患者（NFATC1中位数（最小值 - 最大值）；45.49（5.01 - 101.52）e.u.对15.53（2.36 - 44.40）e.u.，P < 0.05以及81.11（20.27 - 101.10）e.u.对12.16（2.40 - 45.49）e.u.，P < 0.05）。
在BAV患儿中，NFATC1钙调神经磷酸酶信号通路基因的高表达与PWTd和Ao升高有关。
