Eras Nazan, Çetinkaya Ayşegül, Giray Dilek, Hallıoglu Olgu, Aras Nurcan
Department of Medical Genetics, Faculty of Medicine, Mersin University School of Medicine, Mersin University, 33343, Mersin, Turkey.
Department of Medical Biology, Faculty of Medicine, Mersin University, Mersin, Turkey.
Pediatr Cardiol. 2025 Jan;46(1):207-212. doi: 10.1007/s00246-024-03733-0. Epub 2024 Dec 16.
Studies on the genetic basis of bicuspid aortic valve (BAV), characterized by a configuration of the aortic valve with two leaflets instead of three, are insufficient. This study aimed to elucidate the possible relationship between BAV and TGF-β1 gene expression levels. Forty-eight pediatric patients diagnosed with isolated BAV and 50 healthy children with innocent heart murmurs were included in the study. A comprehensive transthoracic echocardiographic examination was performed using the Vivid S5 Pro Ultrasound for all children. TGF-β1 gene expression levels were detected by RT-PCR method. The mean age of the patients was 8.54 ± 5.3 years, and the mean age of the children in the control group was 7.07 ± 5.34 years. It was noted that TGF-β1 gene expression level increased 2.91 times in the patient group compared to the control group (p = 0.03). TGF-β1 gene expression levels of patients with BAV decreased with age. This is the first study to show TGF-β1 gene expression levels in children with BAV. According to the results of our study, TGF-β1 gene expression levels in children with BAV decrease with age. Further studies are needed in all age groups to use TGF-β1 as a prognostic marker in patients with BAV.
关于二叶式主动脉瓣（BAV）遗传基础的研究尚不充分，二叶式主动脉瓣的特征是主动脉瓣结构为两个瓣叶而非三个瓣叶。本研究旨在阐明BAV与转化生长因子-β1（TGF-β1）基因表达水平之间可能存在的关系。该研究纳入了48例诊断为孤立性BAV的儿科患者和50例有单纯心脏杂音的健康儿童。所有儿童均使用Vivid S5 Pro超声进行了全面的经胸超声心动图检查。采用逆转录聚合酶链反应（RT-PCR）法检测TGF-β1基因表达水平。患者的平均年龄为8.54±5.3岁，对照组儿童的平均年龄为7.07±5.34岁。值得注意的是，与对照组相比，患者组中TGF-β1基因表达水平升高了2.91倍（p = 0.03）。BAV患者的TGF-β1基因表达水平随年龄增长而降低。这是第一项显示BAV患儿TGF-β1基因表达水平的研究。根据我们的研究结果，BAV患儿的TGF-β1基因表达水平随年龄增长而降低。需要在所有年龄组中进行进一步研究，以便将TGF-β1用作BAV患者的预后标志物。
