Inherited diseases of the vasculature.
This review focuses on a spectrum of inherited disorders in which recent genetic advances have made a significant contribution to our understanding of vascular pathology and homeostasis. They are discussed according to the type of blood vessel affected and the compounded physiological processes that include angiogenesis, vascular development, and defects in the structure and regulation of the mature vessel. Vascular malformations, arterial aneurysms and dissection, telangiectasia, infiltrative vascular disease, and inherited tumors and disorders of neovascularization are discussed in a variety of settings. Disease roles for endoglin, tissue inhibitor of metalloproteinases 3 (TIMP3), and vascular endothelial growth factor (VEGF) dysregulation are highlighted (175 references).
Shovlin
C L
CL
Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.
Scott
J
J
D000818:Animals; D006801:Humans; D014652:Vascular Diseases / Q000235:genetics* / Q000503:physiopathology