Ardhanari M, Colin A, Tekin M, Infante JC, Swaminathan S.World J Pediatr Congenit Heart Surg. 2020 May 26:2150135120902120. doi: 10.1177/2150135120902120. Online ahead of print.PMID: 32452246
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 girl with this rare genetic variant in whom cardiovascular manifestations were identified in fetal life and who needed neonatal cardiac surgical intervention.