上主动脉瓣狭窄(SVAS)是先天性心脏结构缺陷,其特征是动脉窦上缘的升主动脉局限或瀰漫性狭窄。SVAS可做为偶发缺陷而发生,或做为常染色体显性遗传性状而传递下来。在某些Williams综合征(WS)患者中也发现有SVAS。曾推测降钙素/α-CGRP基因突变与SVAS或WS的发生相关。然而Bennett等报 Upper aortic stenosis (SVAS) is a congenital structural defect of the heart that is characterized by limited or diffuse stenosis of the ascending aorta on the superior margin of the sinus. SVAS can occur as an incidental defect or as an autosomal dominant inheritance. SVAS is also found in some Williams syndrome (WS) patients. It has been speculated that calcitonin / α-CGRP gene mutations associated with the occurrence of SVAS or WS. However Bennett et al