Practical Genetic and Biologic Therapeutic Considerations in Vascular Anomalies

Abstract

Vascular anomalies are classified as either tumors or malformations based on clinical findings rendered through radiologic evaluation, physical exam, and histologic interpretation. These findings comprise the phenotype of the disorder. Recently, advances in the molecular genetics of vascular anomalies have shed light on the genotype of these disorders. These phenotype/genotype characterizations will provide a more precise classification of vascular anomalies and identify potential therapeutic targets for expanded treatment options in the future. In this chapter, we will review the phenotype/genotype characterizations and the possible therapeutic pathways for targeted pharmacologic therapy.