supravalvar aortic stenosis syndrome


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Related to supravalvar aortic stenosis syndrome: subvalvular aortic stenosis

su·pra·val·var a·or·tic ste·no·sis syn·drome

[MIM*185500]
supravalvar aortic stenosis (usually membranous) sometimes associated with pulmonary valvar or peripheral arterial stenosis but with normal facies and mentality; autosomal dominant inheritance, caused by mutation in the elastin gene (ELN) on chromosome 7q. Compare: Williams syndrome.

su·pra·val·var a·or·tic ste·no·sis syn·drome

[MIM*185500]
supravalvar aortic stenosis (usually membranous) sometimes associated with pulmonary valvar or peripheral arterial stenosis but with normal facies and mentality; autosomal dominant inheritance, caused by mutation in the elastin gene (ELN) on chromosome 7q. Compare: Williams syndrome.
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