NOTCH1 and aortic valve stenosis: Of the 21 affected subjects, 19 (90%) had an unequivocal diagnosis of BAV and 2 (9.5%) subjects (figure 1, pedigree B) had a diagnosis of aortic stenosis (AS) but were counted as affected due to the autosomal dominant transmission of a pathogenic NOTCH1 mutation.23 In all pedigrees, the inheritance pattern was consistent with an autosomal dominant transmission.