To assess the proposal that NOTCH1-associated CHD and NOTCH1-associated AOS represent a continuous spectrum of clinical findings [6, 15], and to examine the interfamilial and intrafamilial variability, we present a cohort of individuals and their families who were ascertained through a proband with CHD and found to have a causative NOTCH1 variant. This evidence concerns the gene NOTCH1 and coronary artery disorder.