Arterial tortuosity syndrome is an extremely rare congenital connective tissue condition disorder characterized by tortuosity, elongation, stenosis, or aneurysms in major and medium-size arteries including the aorta.

[citation needed] Non-cardiac signs and symptoms demonstrated by this condition include:[1][5] Arterial tortuosity syndrome exhibits autosomal recessive inheritance, and the responsible gene is located at chromosome 20q13.

[6][2] The gene associated with arterial tortuosity syndrome is SLC2A10 and has at least 23 mutations in those individuals found to have the aforementioned condition.

[7] The molecular genetic pathogenesis finds that the SLC2A10 gene encodes the GLUT10 protein which is found in the nuclear membrane, or the endoplasmic reticulum, the latter of which GLUT10 transports DHA into.

[7] No evidence-based clinical practice guidelines for arterial tortuosity syndrome (ATS) have been published.