FIG. 1.

Mutation of Notch signaling components can cause different congenital pathologies, especially within the cardiovascular system. Notch3 mutations lead to CADASIL, which mainly affects the brain vasculature. Notch1 mutations cause heart diseases as they are associated with both calcific AoVD and AOS, with the latter also caused by Dll4 mutations. Finally, mutations of Jag1 or Notch2 can lead to ALGS that presents vascular defects throughout the body and heart defects. ALGS, Alagille syndrome; AOS, Adams–Oliver syndrome; AoVD, aortic valve disease; CADASIL, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.