主动脉瓣上狭窄威廉姆斯综合症.pptxVIP

Supravalvar Aortic StenosisPF chen2017-11-29Supravalvar is the least common form of left ventricular outflow tract (LVOT) obstruction , accounting for 8 to 14 percent of all cases of aortic stenosisSupravalvar AS is one of the characteristic findings of Williams syndrome along with unusual elfin facies, intellectual disability, and hypercalcemiaWilliams syndrome is caused by a deletion of the elastin gene on chromosome 7q11.23.Other forms of supravalvar AS are also associated with mutations of the elastin geneAnatomyAnatomyHourglass deformity （60-75%）(Discrete)Discrete membranous stenosisDiffu