Abstract Objective: To investigate the roles of aortic disease related genes in bicuspid aortopathy. Methods: 8 BAV patients without family history of aortic disesae who underwent Bentall surgery and found variants of reported aortic disease related genes in Anzhen hospital of Capital Medical University from April 2014 to June 2016 were included. General clinical parameters and laboratory examination results of the patients were recorded. Echocardiography was used to evaluate the BAV classification, valve function, ascending aortic diameter and other indicators. Genetic variations were searched in three major database to exclude the SNPs, and predicted by 3 online software: PROVEAN, Mutation Taster and PolyPhen-2. Results: We included 8 patients with average age of 50.25 years (28-71 years), and only one of which was female. All cases were identified with one target gene mutated. There were four cases of FBN1 gene mutation (c.2926C> Tp.arg976cys, c.2374T>Cp.Cys792Arg, c.2639G>Ap.Gly880Asp, c.6700G>ApVal2234Met), two cases of COL3A1 gene mutation (c.2190A>Tp.GLU730Asp，c.2181G>Ap.Met727Ile), one cases of MYLK gene mutation (c.1414C>Tp.Leu472Phe), and one case of TGFBR1 gene mutation (c.134A >Gp.Asn45Ser). Except for one case with FBN1 gene mutation had BAV of Sievers type 0, the remaining 7 were all Sievers type I, including 6 cases of RL fusion pattern and 1 case with RN fusion pattern. The widest part of the aorta was located in the tubular ascending aorta in 5 cases and the aorta sinus in 3 cases. Two cases were predominant aortic stenosis（AS）, while 5 were predominant aortic regurgitation（AR）, and one was comparable to aortic stenosis and regurgitation. The maximum diameter of thoracic aorta of 3 patients with FBN1 gene mutations (c.2926C> tp.arg976cys, c.2374T>Cp.Cys792Arg，c.2639G>Ap.Gly880Asp), which predicted by all 3 software to be disease causing mutations, were significantly higher than that of the patients with other gene mutations. Conclusion: Aortic disease related genes may be involved in the development of BAV related aortic disease. Hemodynamic changes associated with anatomic abnormalities resulted from genetic variations may ultimately lead to different BAV aortopathy phenotype.