Abstract：
Until recently, cerebral arteriopathy due to heterozygous mutations of the ACTA2 gene was considered a variant of moyamoya disease. However, radiographic analysis of patients with these mutations reveals a distinctive angiographic appearance from that seen in moyamoya disease. Several heterozygous missense ACTA2 mutations have been implicated in the development of this distinct cerebrovascular entity; however, the penetrance and systemic manifestations of these mutations vary based on the location of the amino acid replacement within the α-smooth muscle actin protein. The severity of the phenotype may also differ among patients within a single mutation type. There is limited literature on the safety and efficacy of revascularization procedures for ACTA2 arteriopathy, which have been limited to those patients with known Arg179His mutations. The authors provide a review of the breadth of mutations within the ACTA2 literature and report a case of two siblings with de novo ACTA2 Arg258Cys mutations with differing clinical courses, highlighting the utility of indirect revascularization with 8-year follow-up data. This case highlights the importance of early recognition of the angiographic appearance of ACTA2 cerebral arteriopathy and performance of genetic testing, as the location of the mutation impacts clinical presentation and outcomes.
摘要：
直到最近,由ACTA2基因杂合突变引起的脑动脉病被认为是烟雾病的一种变种.然而,对这些突变患者的影像学分析显示，与烟雾病相比，血管造影表现独特。几个杂合错义ACTA2突变与这种独特的脑血管实体的发展有关；然而，这些突变的外显率和系统表现根据α-平滑肌肌动蛋白中氨基酸置换的位置而变化。表型的严重程度在单一突变类型内的患者之间也可能不同。关于ACTA2动脉病变血运重建手术的安全性和有效性的文献有限，仅限于那些已知Arg179His突变的患者。作者对ACTA2文献中的突变广度进行了综述，并报告了两个具有不同临床病程的从头ACTA2Arg258Cys突变的兄弟姐妹。用8年随访数据强调间接血运重建的效用。该病例强调了早期识别ACTA2脑动脉病的血管造影表现和基因检测的重要性。因为突变的位置影响临床表现和结果。
