Aortic Dilatation Under 5 cm: Genetic Risk Mapping

This retrospective study investigates the prevalence of genetic mutations in patients with ascending aortic dilatation measuring between 4.0 and 5.0 cm-below the standard surgical threshold. Using Next Generation Sequencing (NGS), both syndromic and non-syndromic aortopathy gene panels were analyzed in 102 patients who had no history of aortic surgery, dissection, or known genetic disorders. Findings will be compared with population data to better understand genetic risk profiles in borderline aortic dilatation, potentially supporting earlier interventions based on genetic markers. The study was approved by the Samsun University Non-Interventional Clinical Research Ethics Committee (GOKAEK, 2025/9/2).

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Ascending Aortic Dilatation Aneurysm Aortic Aneurysm Aortic Aneurysm, Thoracic Aortic Diseases Cardiovascular Diseases Vascular Diseases

Age range

20 year–70 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Samsun University Faculty of Medicine

Samsun, 55090, Turkey (Türkiye)

About this study

This retrospective study aims to investigate the prevalence of syndromic and non-syndromic genetic mutations in patients with borderline ascending aortic dilatation (aortic diameter between 4.0-5.0 cm). The study cohort includes patients evaluated at Samsun Training and Research Hospital between 2020 and 2025 who underwent genetic testing using targeted Next Generation Sequencing (NGS) panels for aortopathy. The inclusion criteria focus on individuals aged 20-70 years without known connective tissue syndromes or aortic surgery history. The goal is to identify pathogenic or likely pathogenic variants in known aortopathy-associated genes and correlate these findings with patient-specific factors such as age, sex, and aortic measurements.The outcomes of this study may contribute to earlier identification and stratification of genetic risk in patients with aortic dilation below current surgical thresholds, potentially guiding future recommendations for genetic screening and elective surgical intervention.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Aged 20-70 years
Ascending aortic diameter between 4.0-5.0 cm
Underwent genetic panel testing
No prior aortic surgery
No history of dissection or rupture
No known vasculitis or genetic syndrome

Exclusion criteria

Age <20 or >70
Emergency surgical indication
Active infection or metabolic instability
No available genetic test results

Treatment and study plan

Primary outcomes

Frequency of Syndromic and Non-Syndromic Genetic Mutations

Time frame: 12 months (Proportion of patients with identified mutations from the genetic panel using NGS.)

Assessment of the prevalence of genetic mutations associated with syndromic and non-syndromic aortopathies among patients with ascending aortic diameters between 4.0 and 5.0 cm.

Secondary outcomes

Correlation Between Specific Genetic Mutations and Aortic Diameter

Time frame: 12 months (Statistical correlation coefficients and p-values for associations between variants and patient characteristics.)

To assess whether certain mutations are associated with larger aortic diameters within the 4.0-5.0 cm range. Evaluation of associations between specific genetic variants and clinical variables such as age, sex, body mass index, and ascending aortic diameter.

Sponsors and collaborators

Lead sponsor

Samsun University

Other

Registry information

Official study title

Genetic Risk Stratification in Ascending Aortic Dilatation Below Surgical Threshold: A Retrospective Single-Center Study

Important dates

Study start: 2024
Primary completion: 2026
Study completion: 2026
First posted: Jun 24, 2025
Registry last updated: Jun 27, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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Recruiting