Arterial tortuosity syndrome is a disorder that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body, including blood vessels, skin, joints, and the gastrointestinal tract.
Arterial tortuosity syndrome is caused by mutations in the SLC2A10 gene. This gene provides instructions for making a protein called GLUT10. The level of GLUT10 appears to be involved in the regulation of a process called the transforming growth factor-beta (TGF-β) signaling pathway. This pathway is involved in cell growth and division (proliferation) and the process by which cells mature to carry out special functions (differentiation). The TGF-β signaling pathway is also involved in bone and blood vessel development and the formation of the extracellular matrix, an intricate lattice of proteins and other molecules that forms in the spaces between cells and defines the structure and properties of connective tissues.
Arterial tortuosity syndrome is a rare disorder; its prevalence is unknown. About 100 cases have been reported in the medical literature.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Todd Gensler is a Vascular Surgeon in Newport News, Virginia. Dr. Gensler has been practicing medicine for over 31 years and is rated as a Distinguished doctor by MediFind in the treatment of Arterial Tortuosity Syndrome. He is also highly rated in 17 other conditions, according to our data. His top areas of expertise are Peripheral Artery Disease, Arterial Insufficiency, Thoracic Aortic Aneurysm, and Carotid Artery Disease. He is licensed to treat patients in Virginia. Dr. Gensler is currently accepting new patients.
Marco Ritelli is in Brescia, Italy. Ritelli is rated as a Distinguished expert by MediFind in the treatment of Arterial Tortuosity Syndrome. He is also highly rated in 20 other conditions, according to our data. His top areas of expertise are Occipital Horn Syndrome, Vascular Ehlers-Danlos Syndrome, Ehlers-Danlos Syndrome, and Arterial Tortuosity Syndrome.
Shaine Morris is a Pediatrics specialist and a Cardiologist in Houston, Texas. Dr. Morris has been practicing medicine for over 20 years and is rated as a Distinguished doctor by MediFind in the treatment of Arterial Tortuosity Syndrome. She is also highly rated in 28 other conditions, according to our data. Her top areas of expertise are Congenital Heart Disease, Pulmonary Atresia with Intact Ventricular Septum, Pulmonary Atresia, and Arterial Tortuosity Syndrome. She is licensed to treat patients in Massachusetts and Texas. Dr. Morris is currently accepting new patients.
Published Date:updated Last, November
Published By: National Institutes of Health