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

被引：3

作者：

Ardhanari, Mohanageetha ^{[1
]}

Colin, Andrew ^{[2
]}

Tekin, Mustafa ^{[3
]}

Infante, Juan C. ^{[4
]}

Swaminathan, Sethuraman ^{[1
]}

机构：

[1] Univ Miami, Jackson Mem Hosp, Miller Sch Med, Div Pediat Cardiol,Dept Pediat, 1611 NW 12th Ave,North Wing Rm 109, Miami, FL 33136 USA

[2] Univ Miami, Jackson Mem Hosp, Miller Sch Med, Div Pediat Pulmonol,Dept Pediat, Miami, FL 33136 USA

[3] Univ Miami, Miller Sch Med, Dr John T MacDonald Fdn, Dept Human Genet, Miami, FL 33136 USA

[4] Univ Miami, Jackson Mem Hosp, Miller Sch Med, Dept Radiol, Miami, FL 33136 USA

来源：

WORLD JOURNAL FOR PEDIATRIC AND CONGENITAL HEART SURGERY | 2020年 / 11卷 / 04期

关键词：

D O I：

10.1177/2150135120902120

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Actin alpha 2 (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.

引用

页码：498 / 500

页数：3

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