Arterial Tortuosity SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Arterial Tortuosity Syndrome
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.
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Shaine Morris is a Pediatrics provider in Houston,, Texas. Dr. Morris is rated as an Elite provider by MediFind in the treatment of Arterial Tortuosity Syndrome. Her top areas of expertise are Arterial Tortuosity Syndrome, Hypoplastic Left Heart Syndrome (HLHS), Marfan Syndrome, Heart Transplant, and Septoplasty.
Texas Health Vascular Surgical Specialists
Charles West, M.D., is a vascular surgeon with nearly two decades of medical experience. His work includes research in thoracic oncology, teaching and practicing vascular surgery. Dr. West currently serves as Associate Professor of the Michael E. DeBakey Department of Surgery – Division of Vascular Surgery and Endovascular Therapy at Baylor College of Medicine in Houston and as Professor of Surgery at the Burnett School of Medicine at Texas Christian University in Fort Worth.While at Baylor College of Medicine, West was dedicated to providing a full spectrum of diagnostic evaluations and interventional treatments for problems with arterial and venous blood flow in the lower extremities, including problems with walking and wound healing related to reduced blood flow. He is skilled in the use of the latest operative and minimally invasive endovascular therapies, taking a conservative approach to treatment whenever possible.West is board certified by the American Board of Surgery and the American Board of Vascular Surgery. He is a Fellow of the American College of Surgeons. West earned his medical degree from Louisiana State University's School of Medicine in New Orleans and completed a National Institute of Health research fellowship at Brigham and Women's Hospital in Boston, Mass. He received his general surgery training at the University of Alabama Hospital in Birmingham before completing a vascular surgery fellowship at Mayo Clinic in Rochester, Minn.West specializes in diseases of the aorta, aortic aneurysms and aortic graft infections, aortic reconstruction/repair, deep vein thrombosis and varicose vein treatments, endovascular procedures for aneurysms and occlusive diseases, carotid artery disease and peripheral artery disease. Additionally, he has a particular interest in the treatment of patients with thoracic outlet syndrome and celiac compression syndrome. Dr. West is rated as an Advanced provider by MediFind in the treatment of Arterial Tortuosity Syndrome. His top areas of expertise are Arterial Insufficiency, Median Arcuate Ligament Syndrome (MALS), Brachial Plexopathy, Thoracic Outlet Syndrome, and Carotid Artery Surgery.
Atrium Health Sanger Heart & Vascular Institute Kenilworth
Frank Arko is a General Surgeon and a Vascular Surgeon in Charlotte, North Carolina. Dr. Arko is rated as an Advanced provider by MediFind in the treatment of Arterial Tortuosity Syndrome. His top areas of expertise are Thoracic Aortic Aneurysm, Abdominal Aortic Aneurysm (AAA), Aortic Dissection, Carotid Artery Surgery, and Hernia Surgery. Dr. Arko is currently accepting new patients.
Summary: The main purpose of this study is to define the complex genetic and pathogenic basis of thoracic aortic aneurysm (TAA) and other forms of aortopathy and/or aortic valve disease by identifying novel disease-causing genes and by identifying important genetic modifiers for aortic and aortic valve disease severity.
Published Date: November 01, 2015
Published By: National Institutes of Health