Heritable diseases of the blood vessels.
Four inherited disorders known to effect major arteries will be discussed, including Marfan syndrome (MS), Ehlers-Danlos syndrome (EDS), bicuspid aortic valve (BAV) and nonsyndromic familial aortic dissection. Recent advances in understanding their pathophysiology are presented, and how this knowledge impacts on diagnosis, prevention and treatment is discussed.
Baxter
B Timothy
BT
University of Nebraska Medical Center, Omaha, NE 68132, USA. btbaxter@unmc.edu
D000784:Aortic Dissection / Q000235:genetics*; D000818:Animals; D001014:Aortic Aneurysm / Q000235:genetics*; D017545:Aortic Aneurysm, Thoracic / Q000235:genetics; D001018:Aortic Diseases / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D001022:Aortic Valve Insufficiency / Q000235:genetics; D003094:Collagen / Q000235:genetics / Q000378:metabolism; D004535:Ehlers-Danlos Syndrome / Q000235:genetics* / Q000628:therapy; D000071837:Fibrillins; D020022:Genetic Predisposition to Disease; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics* / Q000628:therapy; D008840:Microfilament Proteins / Q000235:genetics / Q000378:metabolism; D010641:Phenotype
D000071837:Fibrillins; D008840:Microfilament Proteins; D003094:Collagen