Arterial tortuosity syndrome

Arterial tortuosity syndrome is a disorder that affects connective tissue (a tissue that provides strength and flexibility to structures throughout the body). It is characterized by blood vessel abnormalities, particularly abnormal twists and turns (tortuosity) of the blood vessels that carry blood from the heart to the rest of the body (the arteries). Other blood vessel abnormalities that may occur in this disorder include constriction (stenosis) and abnormal bulging (aneurysm) of vessels, as well as small clusters of enlarged blood vessels just under the skin (telangiectasia). Other features include:

• Joints that are either loose and very flexible (hypermobile) or that have deformities limiting movement (contractures)
• Soft and stretchable skin
• Long, slender fingers and toes (arachnodactyly)
• Curvature of the spine (scoliosis)
• Sunken chest (pectus excavatum) or protruding chest (pectus carinatum)
• Protrusion of organs through gaps in muscles (hernias)
• Elongation of the intestines or pouches called diverticula in the intestinal walls

People with arterial tortuosity syndrome often look older than their age and have distinctive facial features. The cornea, which is the clear front covering of the eye, may be cone-shaped and abnormally thin (keratoconus). Arterial tortuosity syndrome is caused by alterations (mutations) in the SLC2A10 gene and is inherited in an autosomal recessive fashion. Aneurysms and focal stenoses are corrected with surgery. Many specialists may be needed for the best management of the disorder.