Arterial tortuosity syndrome (ATS), which is characterized by widespread elongation and tortuosity of the aorta and mid-sized arteries as well as focal stenosis of segments of the pulmonary arteries and/or aorta, has been found to be associated with mutations in the SLC2A10 gene, which encodes the facilitative glucose transporter GLUT10 [23, 24]. This evidence concerns the gene SLC2A10 and arterial tortuosity syndrome.