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Article

Aneurysmal Dilatation of Ductus Arteriosus and Pulmonary Artery in Association With ACTA2 Mutation.

World journal for pediatric & congenital heart surgery - 1 Jul 2020

Ardhanari Mohanageetha, Colin Andrew, Tekin Mustafa, Infante Juan C, Swaminathan Sethuraman

Abstract excerpt

Actin α2 (ACTA2) is a protein crucial for proper functioning of contractile apparatus in smooth muscles. A specific mutation resulting in substitution of arginine at position 179 by histidine (p.R179 H) in ACTA2 has been shown to be associated with multisystemic smooth muscle dysfunction syndrome. Characteristic features include aneurysmal arterial disease. Due to rarity of this disease, we report a nine-year-old...

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Identifiers

PMID: 32452246
DOI: 10.1177/2150135120902120

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