Calcific bicuspid aortic valve disease in a patient with Cornelia de Lange syndrome: linking altered Notch signaling to aortic valve disease

Abstract

We describe a patient with Cornelia de Lange syndrome (CdLS) and a severely calcified bicuspid aortic valve. Cornelia de Lange syndrome is characterized by altered Notch signaling, and recent studies have provided a link between Notch signaling and heart valve development and calcific bicuspid aortic valve disease. In this case report, we propose that altered Notch signaling in CdLS may be causally linked to the calcific bicuspid aortic valve disease in these patients. Patients with CdLS should undergo routine echocardiographic examination for possible congenital cardiac defects including bicuspid aortic valve.