Vascular Malformations: Clinical Features, Molecular Genetics, and Modeling

Vascular malformations encompass a broad spectrum of vascular disorders that occur due to abnormal development, growth, or maintenance of vessel types. Their clinical presentation ranges from a single localized asymptomatic lesion to multifocal or diffuse life-threatening condition. Because of the great variability of lesion morphology and clinical features, diagnosis and treatment are compelling. A multidisciplinary team approach and a high level of expertise are required for the clinical management of complex vascular malformations. In recent years, genetic etiologies of vascular malformations have begun to be identified followed by improvements in terminology and classification. These developments have facilitated accurate diagnosis, provided insight into the clinicopathological mechanisms, and paved the way for the creation of disease models as well as therapeutic advances. However, there is still a need to clearly elucidate underlying cellular and molecular mechanisms to unravel a holistic overview of the disease initiation and progression, which would enable the development of more effective targeted therapeutics. This chapter aims to help researchers understand the problems in current clinical practice, create a perspective on what they need to focus on toward solutions and provide current advances in molecular genetic research and in-vitro and in-vivo disease models of vascular malformations.