WES of eight extended pedigrees recruited by our group identified a single NOTCH1 pathogenic variant.23 There was a significant phenotypic heterogeneity within the carriers of the mutation with the phenotypes including BAV, AS of a trileaflet valve, TAA and VSD.23 We did not identify any pathogenic or likely pathogenic NOTCH1 genetic variants in 381 participants with sporadic BAV. This evidence concerns the gene NOTCH1 and aortic valve stenosis.