Inherited diseases of the vasculature

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C L Shovlin1, J Scott

  • 1Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.

Annual Review of Physiology
|January 1, 1996
PubMed

Insights

Recent genetic discoveries illuminate inherited vascular diseases affecting blood vessels. This review details genetic insights into vascular development, homeostasis, and malformations, including key protein roles.

Area of Science:

  • Cardiovascular Biology
  • Genetics
  • Pathology

Background:

  • Inherited disorders significantly impact vascular pathology and homeostasis.
  • Recent genetic advances have greatly enhanced understanding of these conditions.
  • Vascular health is complex, involving development, structure, and regulation.

Purpose of the Study:

  • To review inherited vascular disorders through the lens of recent genetic discoveries.
  • To explore the physiological processes involved in vascular diseases, including angiogenesis and development.
  • To highlight the roles of specific genes and proteins in vascular pathology.

Main Methods:

  • Literature review of recent genetic advances in inherited vascular diseases.
  • Categorization of disorders by affected blood vessel type and physiological process.
  • Discussion of specific disease entities and molecular mechanisms.

Main Results:

  • Genetic insights have transformed the understanding of vascular pathology.
  • Key roles identified for endoglin, TIMP3, and VEGF dysregulation.
  • Spectrum of disorders discussed: malformations, aneurysms, dissection, telangiectasia, tumors, and neovascularization defects.

Conclusions:

  • Genetic advancements are crucial for understanding inherited vascular diseases.
  • Dysregulation of specific proteins like VEGF significantly contributes to disease.
  • A comprehensive genetic approach is vital for diagnosing and potentially treating these conditions.

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