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アカガワ ヒロユキ
AKAGAWA HIROYUKI
赤川 浩之 所属 研究施設 研究施設 職種 准教授 |
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| 論文種別 | 症例報告 |
| 言語種別 | 英語 |
| 査読の有無 | 査読あり |
| 表題 | Triple bypass for multisystem smooth muscle dysfunction syndrome due to Arg179His ACTA2 mutation. |
| 掲載誌名 | 正式名：Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 略 称：J Stroke Cerebrovasc Dis ISSNコード：15328511/10523057 |
| 掲載区分 | 国外 |
| 巻・号・頁 | 31(9),pp.106402 |
| 著者・共著者 | Morita Shuhei, Yamaguchi Koji, Akagawa Hiroyuki, Ishikawa Tatsuya, Funatsu Takayuki, Eguchi Seiichiro, Ishikawa Tomomi, Niwa Akihiro, Nonaka Taku, Kawamata Takakazu |
| 発行年月 | 2022/03/02 |
| 概要 | 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. |
| DOI | 10.1016/j.jstrokecerebrovasdis.2022.106402 |
| PMID | 35248443 |