The molecular pathophysiology of vascular anomalies: Genomic research

Abstract

Vascular anomalies are congenital localized abnormalities that result from improper develop-ment and maintenance of the vasculature. The lesions of vascular anomalies vary in location, type, and clinical severity of the phenotype, and the current treatment options are often un-satisfactory. Most vascular anomalies are sporadic, but patterns of inheritance have been noted in some cases, making genetic analysis relevant. Developments in the field of genom-ics, including next-generation sequencing, have provided novel insights into the genetic and molecular pathophysiological mechanisms underlying vascular anomalies. These insights may pave the way for new approaches to molecular diagnosis and potential disease-specific ther-apies. This article provides an introduction to genetic testing for vascular anomalies and pres-ents a brief summary of the etiology and genetics of vascular anomalies.