Mutations in NOTCH1 are known to cause familial BAV disease, whereas mutations in MYH11 cause hereditary thoracic aortic aneurysms (McKellar et al., 2007; Takeda et al., 2015; Kerstjens-Frederikse et al., 2016). This evidence concerns the gene NOTCH1 and thoracic aortic aneurysm.