Mechanisms of vascular stability and the relationship to human disease

Purpose of review—The genetic basis for a variety of vascular malformation syndromes have been described, with an increasing functional understanding of the associated genes. Recent findings—Genes responsible for familial vascular malformation syndromes have increasingly been shown to be involved in the control of vascular stability. Summary Genes involved in vascular stability pathways are good candidates for causing vascular malformation syndromes. Although these findings confirm the biologic importance of the involved pathways, further explanations are required to describe the focal nature of disease.