Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.

doi:10.1038/gim.2017.245

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2018

Regalado Ellen S, Mellor-Crummey Lauren, De Backer Julie, Braverman Alan C, Ades Lesley, Benedict Susan, Bradley Timothy J, Brickner M Elizabeth, Chatfield Kathryn C, Child Anne, Feist Cori, Holmes Kathryn W, Iannucci Glen, Lorenz Birgit, Mark Paul, Morisaki Takayuki, Morisaki Hiroko, Morris Shaine A, Mitchell Anna L, Ostergaard John R, Richer Julie, Sallee Denver, Shalhub Sherene, Tekin Mustafa, Estrera Anthony, Musolino Patricia, Yetman Anji, Pyeritz Reed, Milewicz Dianna M

Abstract excerpt

PURPOSE: Smooth muscle dysfunction syndrome (SMDS) due to heterozygous ACTA2 arginine 179 alterations is characterized by patent ductus arteriosus, vasculopathy (aneurysm and occlusive lesions), pulmonary arterial hypertension, and other complications in smooth muscle-dependent organs. We sought to define the clinical history of SMDS to develop recommendations for evaluation and management. METHODS: Medical...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Actins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Aortic Aneurysm, Thoracic

Share to Arginine

Share to Ductus Arteriosus, Patent

Share to Eye Diseases, Hereditary

Share to Genetic Testing

Share to Medical Records

Share to Muscle, Smooth

Source

Open in PubMed Open full text

Identifiers

PMID: 29300374
DOI: 10.1038/gim.2017.245
PMCID: PMC6034999

Genes

ACTA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.PMID 29300374Read ↗

Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.Semantic proximity Read ↗

Neonatal diagnosis of ACTA2-related disease: A case report and review of literature.Semantic proximity Read ↗

Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings.Semantic proximity Read ↗

Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.Semantic proximity Read ↗

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.Semantic proximity Read ↗

European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants.Semantic proximity Read ↗

A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations.Semantic proximity Read ↗

Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation.Semantic proximity Read ↗

Cerebral arteriopathy associated with Arg179His ACTA2 mutation.Semantic proximity Read ↗

Triple bypass for multisystem smooth muscle dysfunction syndrome due to Arg179His ACTA2 mutation.Semantic proximity Read ↗

Refractory cerebral infarction in a child with an ACTA2 mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.