Article

Bicuspid Aortic Valve in Heritable Thoracic Aortic Disease: Insights from the Montalcino Aortic Consortium

2025-11-30

Abstract excerpt

Bicuspid aortic valve (BAV) is the most common congenital heart malformation and predisposes to thoracic aortic aneurysms. The Montalcino Aortic Consortium (MAC) registry collects genetic and phenotypic data on individuals with heritable thoracic aortic disease genes (HTAD PVs) that primarily regulate smooth muscle cell contraction or TGF-β signaling (TGF-β PVs, termed Loeys-Dietz Syndrome (LDS)). We evaluated ass...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 93421c20-778a-5967-82ee-0d80ab7c3fe6
DOI: 10.1101/2025.11.26.25341124

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Bicuspid Aortic Valve in Heritable Thoracic Aortic Disease: Insights from the Montalcino Aortic ConsortiumDOI 10.1101/2025.11.26.25341124Read

Cardiogenetics: genetic testing in the diagnosis and management of patients with aortic disease.Semantic proximity Read

Genetically Triggered Thoracic Aortic Disease: Who Should be Tested?Semantic proximity Read

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

A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: insights from the International BAVCon (Bicuspid Aortic Valve Consortium).Semantic proximity Read

Bicuspid Aortic Valve: Genetic and Clinical InsightsSemantic proximity Read

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

Bicuspid Aortic Valve: a Review with Recommendations for Genetic CounselingSemantic proximity Read

Heritable thoracic aortic disorders.Semantic proximity Read

Prevalence, clinical characterization, management and evolution of bicuspid aortic valve classified according to the 2021 International Consensus Statement in a tertiary care hospital.Semantic proximity Read

Aortic root aortopathy in bicuspid aortic valve associated with high genetic risk.Semantic proximity Read

The Expanding Genetic Architecture of Arteriopathies: From Canonical TAAD Genes to Emerging Connective Tissue and Signaling Pathways.Semantic proximity Read

Genes Associated with Thoracic Aortic Aneurysm and DissectionSemantic proximity Read