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The great vessels are a part of the vascular system that first appears in the mid-third week of development from mesoderm/ectoderm-derived angiogenic cells. The arteries arise from the combination of the ectoderm (cells from the neural crests) and the mesoderm (pharyngeal mesoderm). The first arteries that develop are the right and left primitive aortae, which are a continuation of endocardial cardiac tubes. These primitive aortae curve posteriorly in the first pharyngeal arch, around the anterior part of foregut and then continue posteriorly as two dorsal aortae. These two aortae also fuse cranially close to the heart, forming the aortic sac. The aortic sac continues caudally as truncus arteriosus and lies ventral to the pharynx. The two dorsal aortae lie dorsal to the primitive gut and pass caudally and fuse at the distal end to form a common aorta while the cranial part remains separate.

Notch pathway is essential for the construction of the aorta and aortic arch. We know several receptors like Notch1–4, and the related ligands (Jagged1–2, Delta-like1-4); these molecules are found on the surface of the cell and are defined as transmembrane proteins. The activation of these molecules produces a cascade of metabolic reactions that come to influence DNA. Alagille syndrome is a complex pathology, which carries links to an alteration of Jagged's response1; the disease alters, among other pathological signs, the function and morphology of large vessels. A new protein-coding, the HECTD1 ubiquitin ligase, has been shown to be essential in the development of the aortic arch, influencing the function of retinoic acid. Its functional alteration causes hypoplasia or pathological changes of the aortic arch. Inosine 5 'monophosphate dehydrogenase (IMPDH) of type 2, deriving from the neural crests is fundamental for the development of large vessels. Its importance derives from its ability to influence the guanine nucleotide synthesis correctly; its dysfunction causes aberrations of the large vessels. In the Human Gene Mutation Database, it is possible to find all the mutations known about humans and large vessels.