Vascular malformations: localized defects in vascular morphogenesis.

P Brouillard; M Vikkula

doi:10.1034/j.1399-0004.2003.00092.x

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Vascular malformations: localized defects in vascular morphogenesis.

P Brouillard·M Vikkula

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Abstract

Vascular anomalies are localized defects of the vasculature, and usually affect a limited number of vessels in a restricted area of the body. They are subdivided into vascular malformations and vascular tumours. Most are sporadic, but Mendelian inheritance is observed in some families. By genetic analysis, several causative genes have been identified during the last 10 years. This has shed light into the pathophysiological pathways involved. Interestingly, in most cases, the primary defect seems to affect the characteristics of endothelial cells. Only mutations in the glomulin gene, responsible for hereditary glomuvenous malformations, are thought to directly affect vascular smooth-muscle cells.

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Adaptor Proteins, Signal Transducing Blood Vessels Capillaries Hematologic Diseases Humans Lymphatic Diseases Models, Biological Muscle, Smooth, Vascular Mutation Neovascularization, Pathologic Signal Transduction Tacrolimus Binding Proteins Vascular Diseases Journal Article Research Support, Non-U.S. Gov't Review

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P Brouillard, M Vikkula. 2003. Vascular malformations: localized defects in vascular morphogenesis.. https://doi.org/10.1034/j.1399-0004.2003.00092.x

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