Genetic Vascular Disorders

Abstract

This review describes the clinical presentation, disease biology, and treatment (both medical and surgical) of genetically predisposed vascular diseases including Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome, neurofibromatosis, and pseudoxanthoma elasticum. This study briefly evaluates the progress in understanding the genetic causes of nonsyndromic thoracic aortic aneurysms and dissections and recommendations for working up these patients and their family members. This study then discusses the historical context, current efforts, and future direction of understanding the genetic underpinnings of peripheral arterial disease and abdominal aortic aneurysms through linkage gene studies, candidate gene studies, genome-wide association studies, and epigenetics. This review contains 4 figures, 6 tables, and 68 references.  Key Words: candidate genes, complex traits, Ehlers-Danlos syndrome (EDS), geneme-wide association studies (GWASs), inherited nonsyndromic arteriopathies, linkage studies, Loeys-Dietz syndrome (LDS), Marfan syndrome (MFS), syndromic arteriopathies