Ueki Yasuhito, Naylor Ryan M, Ghozy Sherief A, Thirupathi Kasthuri, Rinaldo Lorenzo, Kallmes David F, Kadirvel Ramanathan
Department of Neurologic Surgery, Mayo Clinic Rochester, MN, USA.
Department of Neurosurgery, Faculty of Medicine, The University of Juntendo, Tokyo, Japan.
J Cereb Blood Flow Metab. 2025 May;45(5):793-799. doi: 10.1177/0271678X251319913. Epub 2025 Feb 13.
Brain arteriovenous malformations (bAVMs) are a notable cause of intracranial hemorrhage, strongly associated with severe morbidity and mortality. Contemporary treatment options include surgery, stereotactic radiosurgery, and endovascular embolization, each of which has limitations. Hence, development of pharmacological interventions is urgently needed. The recent discovery of the presence of activating Kirsten rat sarcoma () viral oncogene homologue mutations in most sporadic bAVMs has opened the door for a more comprehensive understanding of the pathogenesis of bAVMs and has pointed to entirely novel possible therapeutic targets. Herein, we review the status quo of genetics, animal models, and therapeutic approaches in bAVMs.
脑动静脉畸形(bAVM)是颅内出血的一个显著原因,与严重的发病率和死亡率密切相关。当代的治疗选择包括手术、立体定向放射外科和血管内栓塞,每种方法都有其局限性。因此,迫切需要开发药物干预措施。最近发现大多数散发性bAVM中存在激活型Kirsten大鼠肉瘤()病毒癌基因同源物突变,这为更全面地了解bAVM的发病机制打开了大门,并指出了全新的可能治疗靶点。在此,我们综述了bAVM在遗传学、动物模型和治疗方法方面的现状。