Objective To evaluate the application value of transthoracic echocardiography(TTE) in diagnosis the congenial aortic valve disease.Methods A total of 43 patients with congenial aortic valve diseases were enrdled,male 25,female 18,aged 4-46 years old,mean age 23.4 years old.Among these cases there were 7 homozygous familial hypercholesterolemia(HoFH),35 bicuspid aortic valve(BAV) malformation and 1 aortic valve downward displacement malformation.The results of transthoracic echocardiography were retrospective analyzed,and compared with color Doppler.Results Seven HoFH were characterized essentially with supravalvular aortic stenosis,calcified plaque involved aortic valve and aortic root,all patients had aortic regurgitation.Fourteen patients had aortic regurgitation(8 with moderate regurgitation and 6 with mild regurgitation) in 35 BAV patients,9 cases only showed aortic stenosis,12 patients had aortic stenosis and regurgitation together.Other 5 patients were accompanied by dilatation of ascending aorta.One patient of rare aortic valve downward displacement malformation only showed aortic valve regurgitation.Conclusion It is demonstrated that TTE could noninvasive diagnose congenial aortic valve diseases,and precise evaluation of the secondary changes.