Congenital supravalvar aortic stenosis
Definition:
Congenital supravalvar aortic stenosis is a rare stenotic lesion of the left ventricular out flow tract. The malformation consists a supravalvar narrowing at the aortic sinotubular junction. The underlying cause of the disease is a loss-of function mutation of the elastin gene.
References:
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[1]. C Stamm, et al. Congenital supravalvar aortic stenosis: a simple lesion?. Eur J Cardiothorac Surg. 2001 Feb;19(2):195-202. [Content Brief]
[2]. Edward J Hickey, et al. Congenital supravalvular aortic stenosis: defining surgical and nonsurgical outcomes. Ann Thorac Surg. 2008 Dec;86(6):1919-27; discussion 1927. [Content Brief]
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