Rapid progression of aortic stenosis in a 3-month-old infant with bicuspid aortic valve and DeSanto-Shinawi syndrome

Abstract

A 3-month-old female was diagnosed at 1 month of age with DeSanto-Shinawi syndrome (DSS) and bicuspid aortic valve with trivial stenosis. The aortic valve stenosis progressed to severe within 2 months and required balloon aortic valvuloplasty. This is the first case of aortic stenosis (AS) associated with DSS, and the syndrome may be the reason for the rapid worsening of AS in this case.

Keywords

• aortic stenosis
• chromosome 10p12-p11
• desanto-shinawi syndrome