Molecular Genetics of Hereditary Vascular Malformations

Aerts, Virginie;Boon, Laurence;Vikkula, Miikka
(2009) Encyclopedia of Life Sciences — p. 1-8 (2009)

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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.
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Aerts, V., Boon, L., & Vikkula, M. (2009). Molecular Genetics of Hereditary Vascular Malformations. Encyclopedia of Life Sciences, 1-8. https://doi.org/10.1002/9780470015902.a0021459 (Original work published 2009)