Arterial tortuosity syndrome

Arterial tortuosity syndrome is an extremely rare inherited connective tissue disorder in which the major and medium-sized arteries, including the aorta, become twisted and elongated, and may also narrow or bulge into aneurysms. Related cardiovascular findings include aortic valve regurgitation and high blood pressure, and some people also show long slender fingers, keratoconus, small clusters of dilated skin vessels, or a congenital diaphragmatic hernia. The condition follows autosomal recessive inheritance and is caused by mutations in the SLC2A10 gene, which encodes the GLUT10 protein found in the nuclear membrane and endoplasmic reticulum. Diagnosis rests on finding generalized arterial tortuosity together with a pathogenic SLC2A10 mutation, using examination, echocardiography, and CT or MRI angiography. No evidence-based clinical guidelines exist; care relies on a multidisciplinary team, regular echocardiograms, and surgery for aneurysms when needed.