主动脉瓣上狭窄,威廉姆斯综合症的研究的报告.pptVIP

Supravalvar aortic Stenosis PF chen 2017-11-29 Supravalvar is the least common form of left ventricular outflow tract (LVOT)obstruction, accounting for 8 to 14 percent of all cases of aortic stenosi Supravalvar as is one of the characteristic findings of Williams syndrome along with unusual elfin facies intellectual disability, and hypercalcemia Williams syndrome is caused by a deletion of the elastin gene on chromosome 7qll 23 Other forms of supravalvar AS are also associated with mutations of the elastin gene Anatomy Anatomy Hourglass deformity (60-75%)(Discrete Discrete membranous steno