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Inherited diseases of the vasculature
1Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.
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.
Abstract:
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).