Molecular Genetics of Hereditary Vascular Malformations

Abstract Vascular anomalies are divided into vascular tumours (mainly infantile haemangiomas) and vascular malformations. Vascular malformations are subdivided following the type of vessel affected: venous, capillary, arteriovenous and lymphatic. In addition to the pure forms, combined lesions are frequently encountered. Most of these malformations are sporadic, i.e. there is no family history, but familial cases, transmitted as an autosomal dominant or recessive trait, exist. During the last 10 years, the identification of disease‐causing genes implicated in the familial forms have resulted in a better classification of vascular anomalies, which has helped in assessment of treatment efficacy. These data have also unravelled the physiological role of the identified proteins during human vascular development. Key concepts Classification of vascular tumours and vascular malformations. Vascular malformations are developmental anomalies. Vascular malformations are classified depending on the affected vessels to capillary, venous, arterial, lymphatic or combined. Sporadic and familial forms exist. Familial cases are often transmitted as an autosomal dominant disorder. Several causative genes have been identified.