Arterial Tortuosity Syndrome (ATS) is a rare disorder of the connective tissue, characterized by elongation and tortuosity of arteries and associated complications that include aneurysm, dilatation, stenosis, ventricular hypertrophy, and elevated blood pressures, including pulmonary and systemic hypertensions. Apart form these cardiovascular defects, patients also show skin hyperextensibility and cutis laxa, joint laxity, and inguinal hernia. Affected patients have also been noted to have peculiar facial features, including epicanthic folds, flat saggy cheeks, elongated facies, and micrognathia.
Histologically, elastic fibers of the tunica media show disruption, and internal plastic membranes are fragmented. Therapeutic options are limited in most patients, and usually death results at a young age.
ATS is transmitted in an autosomal recessive manner. Recently, mutations in the GLUT10 (Glucose Transporter 10) gene have been found to be responsible for causing the condition. The GLUT10, also known as SLC2A10, gene codes for a facilitative glucose transporter protein that plays a major role in maintaining glucose homeostatsis.