Abbreviations: BAV = Bicuspid Aortic Valve, TGFBR1 = transforming growth factor-beta receptorI gene; TGFBR2 = transforming growth factor-beta receptorII gene; PCR-RFLP = PCR-based restriction fragment length polymorphism; MAF = minor allele frequency; CoA = coarctation of the aorta; TGFβ = transforming growth factor beta; MRI = Magnetic Resonance Imaging; AscAA = ascending aortic aneurysm; LVOT = left ventricular outflow tract. The gene discussed is TGFB1; the disease is Ascending tubular aorta aneurysm.