Basic Knowledge and Overview of Brain AVMs

抄録

Brain arteriovenous malformations (AVMs) are intricate networks of blood vessels in which arteries connect directly to veins, bypassing the capillary system. This aberration can lead to serious neurological manifestations, including seizures, headaches, and hemorrhagic strokes. The embryonic development of AVMs implicates possible disruptions in arteriovenous differentiation during angiogenesis, improper regression of the primary capillary plexus, or the retention of fetal vasculature as contributing factors. Additionally, genetic mutations and environmental influences during pregnancy may facilitate AVM formation, with identified mutations in genes such as endoglin, activin receptor-like kinase 1, SMAD family member 4, and RAS p21 protein activator 1 disrupting vascular development. Such mutations are associated with conditions like hereditary hemorrhagic telangiectasia and capillary malformation-arteriovenous malformation syndrome, thus highlighting the essential role of genetic counseling in AVM management. This review underscores the importance of a deep comprehension of the embryological and genetic foundations of AVMs to refine diagnostic, therapeutic, and prognostic approaches. The paper advocates for advanced research on intervention strategies and emphasizes the significance of a genetics-focused approach in the clinical management of AVMs.