Expression Profile of TGFB1 Gene in Pediatric Patients with Isolated Bicuspid Aortic Valve

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.