University of Arkansas for Medical Sciences, Arkansas Children's Hospital, 1 Children's Way, Slot 836, Little Rock, AR 72202, United States.
University of Arkansas for Medical Sciences, Arkansas Children's Hospital, 1 Children's Way, Slot 836, Little Rock, AR 72202, United States.
Semin Pediatr Surg. 2020 Oct;29(5):150965. doi: 10.1016/j.sempedsurg.2020.150965. Epub 2020 Sep 16.
Arteriovenous malformations (AVMs) are vascular lesions that are thought to arise from congenital errors during development of vessels resulting in abnormal connections between arteries and veins. Though most AVMs develop in the brain or spinal cord, they can occur anywhere in the body. These extracranial or peripheral AVMs have a predilection for the head, neck, and limbs. Since these malformations infiltrate normal soft tissue, management requires selective treatment with preservation of normal surrounding architecture. Therefore, they are best addressed through a staged multimodal and multidisciplinary approach, using a combination of different laser, interstitial, intravascular and surgical techniques to specifically target anomalous vessels. The goal of treatment is overall disease improvement and symptom control with interventions that do not result in outcomes worse than the disease itself. Recently, the discovery of somatic and germline mutations in peripheral AVMs have contributed to a better understanding of the pathophysiology, resulting in promising new pharmacologic treatments. Recent evidence suggests that adjuvant medical therapy can enhance and sustain interventional and/or surgical outcomes. Herein we describe how a new understanding of the etiology and physiology of extracranial AVM provides guidance to current treatment approaches.
动静脉畸形（AVM）是一种血管病变，据认为是在血管发育过程中出现先天性错误导致的，从而导致动脉和静脉之间出现异常连接。尽管大多数 AVM 发生在大脑或脊髓中，但它们也可能发生在身体的任何部位。这些颅外或周围的 AVM 倾向于发生在头部、颈部和四肢。由于这些畸形会浸润正常的软组织，因此需要通过选择性治疗来保留正常的周围结构。因此，通过分期多模式和多学科方法，结合使用不同的激光、介入、血管内和手术技术来专门针对异常血管，是最佳的治疗方法。治疗的目标是整体改善疾病并控制症状，同时避免治疗结果比疾病本身更差。最近，在周围 AVM 中发现了体细胞和种系突变，这有助于更好地理解病理生理学，从而带来了有前途的新药物治疗方法。最近的证据表明，辅助药物治疗可以增强和维持介入和/或手术的效果。本文描述了对颅外 AVM 的病因和生理学的新认识如何为当前的治疗方法提供指导。
