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Published on: November 18, 2018
Aneurysmal Dilatation of Ductus Arteriosus and Pulmonary Artery in Association With ACTA2 Mutation
Mohanageetha Ardhanari1, Andrew Colin2, Mustafa Tekin3
1Division of Pediatric Cardiology, Department of Pediatrics, Jackson Memorial Hospital, University of Miami, Miller School of Medicine, Miami, FL, USA.
Abstract:
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.
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