Arterial and Venous Tortuosity Syndrome: A Case Report

Arterial tortuosity syndrome (ATS) is a rare, autosomal, and recessive disorder. The genetic defect in this disease is caused by loss-of-function mutations in the SLC2A10 gene, which encodes facilitative glucose GLUT 10. ATS is characterized by the widespread elongation and tortuosity of the aorta and the mid-sized arteries and focal stenosis in segments of the pulmonary arteries and/or the aorta combined with findings of a generalized connective tissue disorder. About 12% of all affected individuals are admitted to the neonatal intensive care unit because of primary presentation with infant respiratory distress syndrome. Most affected patients are identified in early childhood with cardiac murmurs or cyanosis. Here, we describe a 6-year-old boy with repeat hospitalizations due to respiratory symptoms and a history of unilateral hernioplasty. Physical examinations showed an increased range of motion in the joints and a decreased lower limb pulse, raising the suspicion of aortic coarctation. Frontal chest radiography, echocardiography, and computed tomography angiography demonstrated elongation and tortuosity in most of the patient’s arteries and veins. (Iranian Heart Journal 2023; 24(4): 85-89)