Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene.

Abstract excerpt

Supravalvular aortic stenosis (SVAS) is an inherited vascular disease that can cause heart failure and death. SVAS can be inherited as an autosomal dominant trait or as part of a developmental disorder, Williams syndrome (WS). In recent studies we presented evidence suggesting that a translocatio...

Topics

• Aortic Stenosis, Subvalvular
• Base Sequence
• Elastin
• Electrophoresis, Gel, Pulsed-Field
• Female
• Gene Deletion
• Humans
• Male
• Molecular Sequence Data
• Mutation