Novel ELN mutation in a Japanese family with a severe form of supravalvular aortic stenosis

Novel mutations in the human elastin gene (ELN) causing isolated supravalvular aortic stenosis.

Supravalvular aortic stenosis (SVAS), an inherited vascular disease, is caused by mutations in the elastin gene (ELN). Our aim was to identify novel mutations of ELN and to determine the expression of ELN in patients with SVAS. For screening mutations in ELN, we performed PCR-directed sequence analysis with genomic DNA isolated from SVAS patients and control subjects. Expression of ELN at the m...

Supravalvular aortic stenosis.

The authors describe the case of an inborn supravalvular aortal stenosis in an adult patient who was successfully treated by a plastic operation of the stenotic portion of the ascendent aorta by means of a synthetic patch. At the same time also a plastic operation of an incompetent mitral valve was made.

Supravalvular Aortic Stenosis

In 3 patients obstruction to left ventricular outflow was shown to be due to a localized narrowing of the aortic root at the point of insertion of the aortic leaflets. The site of obstruction was localized by left heart catheterization and selective angiography. The pathologic findings in 2 patients are described and the problem of the surgical management of this unusual form of aortic stenosis...

Supravalvular Aortic Stenosis

BEFORE Denie and Verheugt (1958)' drew attention to the possibility of diagnosing supravalvular aortic stenosis from the characteristics of the pressure tracings across the aortic valve region, there had been only autopsy reports of 17 cases with supravalvular obstruction. Fourteen of these earlier accounts concern bands or membranes stretching across the aortic lumen2-'0 and only three previou...

Supravalvular aortic stenosis