Arterial tortuosity syndrome (ATS)

Arterial tortuosity syndrome

Arterial tortuosity syndrome (ATS; MIM 208050) is an autosomal recessive disorder characterized by tortuosity, elongation, and aneuryms of major arteries and the aorta. Additional cardiovascular findings may include aberrant origin of aortic branches, aortic stenosis, pulmonary artery or pulmonary valve stenosis or stenosis of additional arteries, and vasomotor instability. Craniofacial findings include a long face with a beaked nose in most patients, hypertelorism, short downslanting palpebral fissures, malar hypoplasia, sagging cheeks, large ears, and an aged appearance. Less frequently patients may display a high arched palate and micrognathia. Most individuals have joint laxity. Skeletal findings can include a pectus deformity, arachnodactyly, scoliosis and, less frequently contractures. Many patients are reported to have either inguinal or diaphragmatic hernia. The skin may be thin, velvety, and hyperextensible. The differential diagnosis includes Loeys-Dietz syndrome and some types of Ehlers-Danlos syndrome. Arterial tortuosity syndrome is caused by mutations in the solute carrier family 2, member 10 gene (SLC2A10). This gene encodes the glucose transporter GLUT10.