The pathobiology of vascular malformations: insights from human and model organism genetics

Abstract

Vascular malformations may arise in any of the vascular beds present in the human body. These lesions vary in location, type, and clinical severity of the phenotype. In recent years, the genetic basis of several vascular malformations has been elucidated. This review will consider how the identification of the genetic factors contributing to different vascular malformations, with subsequent functional studies in animal models, has provided a better understanding of these factors that maintain vascular integrity in vascular beds, as well as their role in the pathogenesis of vascular malformations. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

Keywords: CADASIL/CARASIL; Klippel-Trenaunay syndrome; Loeys-Dietz syndrome; Parkes Weber syndrome; Sturge-Weber syndrome; arterial tortuosity syndrome; blue rubber bleb naevus syndrome; capillary malformation-arteriovenous malformation; cerebral cavernous malformation; glomuvenous malformations; hereditary haemorrhagic telangiectasia; moyamoya disease; venous malformations.