Progressive aortic dilation associated with ACTA2 mutations presenting in infancy

Angela T Yetman, Lois J Starr, Steven B. Bleyl, Lindsay Meyers, Jeffrey W Delaney

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Mutations in the gene ACTA2 are a recognized cause of aortic aneurysms with aortic dissection in adulthood. Recently, a specific mutation (Arg179His) in this gene has been associated with multisystem smooth muscle dysfunction presenting in childhood. We describe 3 patients with an R179H mutation, all of whom presented with an aneurysmal patent ductus arteriosus. Detailed information on the rate of aortic disease progression throughout childhood is provided. Death or need for ascending aortic replacement occurred in all patients. Genetic testing for ACTA2 mutations should be considered in all infants presenting with ductal aneurysms.

Original languageEnglish (US)
Pages (from-to)e262-e266
JournalPediatrics
Volume136
Issue number1
DOIs
StatePublished - Jul 1 2015

Fingerprint

Dilatation
Mutation
Aortic Diseases
Patent Ductus Arteriosus
Aortic Aneurysm
Genetic Testing
Genes
Aneurysm
Smooth Muscle
Disease Progression
Dissection

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Progressive aortic dilation associated with ACTA2 mutations presenting in infancy. / Yetman, Angela T; Starr, Lois J; Bleyl, Steven B.; Meyers, Lindsay; Delaney, Jeffrey W.

In: Pediatrics, Vol. 136, No. 1, 01.07.2015, p. e262-e266.

Research output: Contribution to journalArticle

@article{7996a452e15e4e94befe1f4276482d2d,
title = "Progressive aortic dilation associated with ACTA2 mutations presenting in infancy",
abstract = "Mutations in the gene ACTA2 are a recognized cause of aortic aneurysms with aortic dissection in adulthood. Recently, a specific mutation (Arg179His) in this gene has been associated with multisystem smooth muscle dysfunction presenting in childhood. We describe 3 patients with an R179H mutation, all of whom presented with an aneurysmal patent ductus arteriosus. Detailed information on the rate of aortic disease progression throughout childhood is provided. Death or need for ascending aortic replacement occurred in all patients. Genetic testing for ACTA2 mutations should be considered in all infants presenting with ductal aneurysms.",
author = "Yetman, {Angela T} and Starr, {Lois J} and Bleyl, {Steven B.} and Lindsay Meyers and Delaney, {Jeffrey W}",
year = "2015",
month = "7",
day = "1",
doi = "10.1542/peds.2014-3032",
language = "English (US)",
volume = "136",
pages = "e262--e266",
journal = "Pediatrics",
issn = "0031-4005",
publisher = "American Academy of Pediatrics",
number = "1",

}

TY - JOUR

T1 - Progressive aortic dilation associated with ACTA2 mutations presenting in infancy

AU - Yetman, Angela T

AU - Starr, Lois J

AU - Bleyl, Steven B.

AU - Meyers, Lindsay

AU - Delaney, Jeffrey W

PY - 2015/7/1

Y1 - 2015/7/1

N2 - Mutations in the gene ACTA2 are a recognized cause of aortic aneurysms with aortic dissection in adulthood. Recently, a specific mutation (Arg179His) in this gene has been associated with multisystem smooth muscle dysfunction presenting in childhood. We describe 3 patients with an R179H mutation, all of whom presented with an aneurysmal patent ductus arteriosus. Detailed information on the rate of aortic disease progression throughout childhood is provided. Death or need for ascending aortic replacement occurred in all patients. Genetic testing for ACTA2 mutations should be considered in all infants presenting with ductal aneurysms.

AB - Mutations in the gene ACTA2 are a recognized cause of aortic aneurysms with aortic dissection in adulthood. Recently, a specific mutation (Arg179His) in this gene has been associated with multisystem smooth muscle dysfunction presenting in childhood. We describe 3 patients with an R179H mutation, all of whom presented with an aneurysmal patent ductus arteriosus. Detailed information on the rate of aortic disease progression throughout childhood is provided. Death or need for ascending aortic replacement occurred in all patients. Genetic testing for ACTA2 mutations should be considered in all infants presenting with ductal aneurysms.

UR - http://www.scopus.com/inward/record.url?scp=84934286615&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84934286615&partnerID=8YFLogxK

U2 - 10.1542/peds.2014-3032

DO - 10.1542/peds.2014-3032

M3 - Article

C2 - 26034244

AN - SCOPUS:84934286615

VL - 136

SP - e262-e266

JO - Pediatrics

JF - Pediatrics

SN - 0031-4005

IS - 1

ER -