Department of Neurosurgery, Tokyo Women's Medical University, Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
Department of Neurosurgery, Tokyo Women's Medical University, Tokyo, Japan.
J Stroke Cerebrovasc Dis. 2022 Sep;31(9):106402. doi: 10.1016/j.jstrokecerebrovasdis.2022.106402. Epub 2022 Mar 2.
Missense mutations in the smooth muscle-specific isoform of the alpha-actin (ACTA2) gene, which encodes smooth muscle actin, congenitally cause systemic smooth muscle dysfunction, leading to multiple systemic smooth muscle dysfunction syndrome. This disease is often diagnosed through the development of congenital mydriasis, patent ductus arteriosus, or thoracic aortic aneurysm at a young age. Some patients develop cerebrovascular lesions, also known as ACTA2 cerebral arteriopathy, which cause ischemic stroke and require surgical revascularization. However, an effective and safe treatment has not yet been established owing to the rarity of the disease. Furthermore, most reports of this disease involve children, with only a few reports on adults and few detailed reports on treatment outcomes published to date. We report a 46-year-old woman with ACTA2 cerebral arteriopathy caused by Arg179His, the most common mutation in this disease; she is the oldest patient reported with this disease to the best of our knowledge. The patient was diagnosed with multiple systemic smooth muscle dysfunction syndrome and ACTA2 cerebral arteriopathy after experiencing a stroke in the right cingulate gyrus. She underwent direct triple bypass with three anastomoses of the right superficial temporal artery to the middle and anterior cerebral arteries. She developed an ischemic stroke as a postoperative complication.The efficacy and safety of this procedure have not been clearly confirmed owing to the frailty of the donor superficial temporal artery and the poor development of collateral circulation; however, direct bypass should be considered a treatment option for patients experiencing progressive multiple strokes.
错义突变在平滑肌特异性同工型的α-肌动蛋白（ACTA2）基因，编码平滑肌肌动蛋白，先天性导致全身平滑肌功能障碍，导致多个全身平滑肌功能障碍综合征。这种疾病通常通过先天性瞳孔散大、动脉导管未闭或年轻患者的胸主动脉瘤的发展来诊断。一些患者会出现脑血管病变，也称为 ACTA2 脑动脉病，导致缺血性中风并需要手术血运重建。然而，由于疾病的罕见性，尚未建立有效的治疗方法。此外，大多数关于这种疾病的报告涉及儿童，只有少数报告涉及成年人，并且迄今为止很少有详细的治疗结果报告。我们报告了一位 46 岁的女性患有 ACTA2 脑动脉病，病因是 Arg179His，这是该疾病最常见的突变；据我们所知，这是该疾病报告的最年长患者。该患者因右侧扣带回卒中后被诊断为多发性全身平滑肌功能障碍综合征和 ACTA2 脑动脉病。她接受了右侧颞浅动脉到大脑中动脉和大脑前动脉的三个吻合术的直接三重旁路手术。她因术后并发症发生缺血性中风。由于供体颞浅动脉的脆弱性和侧支循环的发育不良，该手术的疗效和安全性尚未明确证实；然而，对于经历进行性多发性中风的患者，直接旁路手术应被视为一种治疗选择。
