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Article

Triple bypass for multisystem smooth muscle dysfunction syndrome due to Arg179His ACTA2 mutation.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association - 1 Sept 2022

Morita Shuhei, Yamaguchi Koji, Akagawa Hiroyuki, Ishikawa Tatsuya, Funatsu Takayuki, Eguchi Seiichirou, Ishikawa Tomomi, Niwa Akihiro, Nonaka Taku, Kawamata Takakazu

Abstract excerpt

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...

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Identifiers

PMID: 35248443
DOI: 10.1016/j.jstrokecerebrovasdis.2022.106402

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