Vaskulárna medicína 1/2024

Vascular malformations

Vascular malformations are caused by a developmental error during embryogenesis. They include a wide spectrum of diseases including venous, lymphatic, arterial, capillary, combined malformations and clinical syndromes associated with other vascular anomalies. They are present at birth, never regress and increase proportionally during growth. The clinical spectrum of these diseases is diverse, from minor almost invisible cosmetic defects to mutilating diseases with significant morbidity. Complete cure with conventional treatments such as surgery, endovascular treatment and laser treatment is often not possible, and recurrence of the malformation may occur from residual embryonic tissue. Many vascular malformations are associated with mutations in molecular pathways (RASopathies and PICopathies), which enabled the use of pharmacotherapy targeting these molecular pathways in severe vascular malformations.

Keywords: vascular malformations, capillary malformations, venous malformations, lymphatic malformations, arteriovenous malformations