Clinically Translatable Mutation-Based Biomarkers in Ascending Aortic Aneurysm: A Bibliometric Study

Area of Science:

• Cardiovascular Genetics
• Biomarker Research
• Bibliometrics

Background:

• Ascending aortic aneurysm diagnosis relies on diameter, leading to risk heterogeneity.
• Genetic variant biomarkers offer potential to refine diagnosis, screening, and management.
• Current research landscape needs comprehensive analysis.

Purpose of the Study:

• To map the intellectual structure and thematic evolution of research on clinically translatable variant biomarkers for ascending aortic aneurysm.
• To identify key concepts, influential publications, and research trends.

Main Methods:

• Cross-database bibliometric analysis of Web of Science, Scopus, and PubMed (1997-2025).
• Analysis of 1346 publications using bibliometrix and VOSviewer for network construction and indicator computation.
• Concept-driven search terms covered aneurysm phenotypes, genomic variation, and clinical translation.

Main Results:

• Rapid literature growth (15.35% annual rate) with significant international collaboration, led by the United States.
• Core research themes include syndromic thoracic aortic disease genetics (e.g., Marfan, Loeys-Dietz) and gene signaling pathways (FBN1, TGF-beta).
• Emerging focus on variant interpretation, risk stratification, guidelines, and implementation, with projected peak around 2028.

Conclusions:

• Variant biomarkers are crucial for advancing ascending aortic aneurysm management beyond traditional metrics.
• The field is evolving from gene discovery to clinical application and validation.
• Addressing research gaps, particularly from low-resource regions, is essential for equitable progress.