Discover Community Create You

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

Article

A highly penetrant ACTA2 mutation of thoracic aortic disease.

Journal of cardiothoracic surgery - 4 Dec 2023

Bobba Christopher M, Azarrafiy Ryan, Spratt John R, Hendrickson Jill, Martin Tomas D, Arnaoutakis George J, Jeng Eric I, Beaver Thomas M

Abstract excerpt

BACKGROUND: The role of ACTA2 mutations in Familial Aortic Disease has been increasingly recognized. We describe a highly penetrant variant (R118Q) in a family with aortic disease. CASE REPORT: A patient presented to us for elective repair of an ascending aortic aneurysm with a family history of his mother expiring after aortic dissection. Genetic testing revealed he was a heterozygous carrier of the ACTA2...

Read the complete abstract on PubMed

Topics

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

Share to Aortic Aneurysm, Thoracic
Share to Actins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Aged, 80 and over

Share to Aortic Diseases

Share to Aortic Dissection

Share to Connective tissue disorders research

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 38044429
DOI: 10.1186/s13019-023-02420-0
PMCID: PMC10694883

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

A highly penetrant ACTA2 mutation of thoracic aortic disease.PMID 38044429Read ↗

A Highly Penetrant ACTA2 Mutation Variant of Thoracic Aortic DiseaseSemantic proximity Read ↗

Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.Semantic proximity Read ↗

Familial acute aortic dissection associated with a novel ACTA2 germline variant.Semantic proximity Read ↗

The natural history of a family with aortic dissection associated with a novel ACTA2 variant.Semantic proximity Read ↗

A novel ACTA2 variant in sudden fatal familial thoracic aortic dissection: literature review and genotype-phenotype expansion.Semantic proximity Read ↗

Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.Semantic proximity Read ↗

Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2).Semantic proximity Read ↗

Update on the genetic risk for thoracic aortic aneurysms and acute aortic dissections: implications for clinical care.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 ↗

Thoracic aortic aneurysm gene dictionary.Semantic proximity Read ↗

A Decade of Discovery in the Genetic Understanding of Thoracic Aortic Disease.Semantic proximity Read ↗

Comparative Risks of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease.Semantic proximity Read ↗

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