Arterial Tortuosity Syndrome Overview
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.
Tallahassee Memorial Healthcare Inc
Robert Heidepriem is a Vascular Surgeon and a General Surgeon in Tallahassee, Florida. Dr. Heidepriem and is rated as an Advanced provider by MediFind in the treatment of Arterial Tortuosity Syndrome. His top areas of expertise are Renovascular Hypertension, Arterial Tortuosity Syndrome, Gangrene, Carotid Artery Surgery, and Endoscopy. Dr. Heidepriem is currently accepting new patients.
Tallahassee Memorial Healthcare Inc
Christopher Griggs is a Vascular Surgeon in Tallahassee, Florida. Dr. Griggs and is rated as an Experienced provider by MediFind in the treatment of Arterial Tortuosity Syndrome. His top areas of expertise are Peptic Ulcer, Cellulitis, Abdominal Aortic Aneurysm (AAA), Thoracic Aortic Aneurysm, and Carotid Artery Surgery. Dr. Griggs is currently accepting new patients.
Capital Regional Healthcare LLC
Jeffrey Kirk is a Vascular Surgeon in Tallahassee, Florida. Dr. Kirk and is rated as an Experienced provider by MediFind in the treatment of Arterial Tortuosity Syndrome. His top areas of expertise are Gangrene, Peripheral Artery Disease, Arterial Insufficiency, Carotid Artery Surgery, and Myringotomy. Dr. Kirk 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