Objective To investigate the correlation of aortic disease related genes in bicuspid aortopathy.Methods Eight bicuspid aortic valve（BAV） patients who underwent Bentall surgery and found variants of reported aortic disease related genes were included.Echocardiography was used to evaluate the BAV classification

valve function

ascending aortic diameter.Blood index was collected and aortic disease-related genes were screened to predict the pathogenicity of the mutations.General clinical parameters and laboratory examination results of the patients were recorded.Results Among8 included patients

the widest part of the aorta was located in the tubular ascending aorta in 5 cases and the aorta sinus in 3 cases.2 cases were predominant aortic stenosis

while 5 were predominant aortic regurgitation

and 1 was comparable to aortic stenosis and regurgitation.There were 4 cases of FBN1 gene mutation（c.2926C> Tp.Arg976Cys

c.2374T>Cp.Cys792Arg

c.2639G>Ap.Gly880Asp

c.6700G>Ap.Val2234 Met）

2 cases of COL3 A1 gene mutation（c.2190A>Tp.GLU730Asp

c.2181G>Ap.Met727 Ile）

1 case of MYLK gene mutation（c.1414 C>Tp.Leu472 Phe）

and 1 case of TGFBR1 gene mutation（c.134A>Gp.Asn45Ser）.Except1 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 maximum diameters 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 possible pathogenic mutations

were significantly higher than those of the patients with other gene mutations.Conclusion Genetic variation related anatomic abnormalities and hemodynamic changes associated with aortic valve dysfunction may jointly lead to different types of bicuspid aortopathy.