NT5E mutation in sisters who underwent aortic valve replacements for aortic stenosis

Mutations of the NT5E gene encoding the cluster of differentiation 73 (CD73) protein have been found in patients with characteristic calcification of joints and arteries (CALJA). CD73 plays a protective role against aortic valve calcification; therefore, its deletion results in aortic valve calcification. However, to date, there are no reports of a patient with CALJA with aortic stenosis. In this study, we describe 2 extremely rare cases of...