Mutations in NOTCH1 cause aortic valve disease

A genetic basis for aortic valve calcification, a leading cause of heart disease in adults, has been discovered in a study of congenital heart disease in five generations of the same family. The disease was apparent in family members with a mutation in the transcriptional regulator NOTCH1. The mutant gene causes heart valve defects in transgenic mice. NOTCH1 mutations have previously been identified in human blood cancers, but this is the first indication that it has a role in the development of the heart.