Aortic Dilatation Under 5 cm: Genetic Risk Mapping

NCT07034430 | Active Not Recruiting

• 1 other identifier: GOKAEK-2025/9/2
• Study Type: observational
• Target: 102
• Locations: 1 country
• Sites: 1

Brief Summary

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).

Conditions

Ascending Aortic Dilatation; Aortic Aneurysm, Thoracic; Aortic Diseases

Keywords

Non-Syndromic Aortopathy; Syndromic Aortopathy; Aortic Root Dilatation; Next Generation Sequencing (NGS); Borderline Aortic Diameter

Outcome Measures

Primary Outcomes (1)

• Frequency of Syndromic and Non-Syndromic Genetic Mutations

  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.

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

Secondary Outcomes (1)

• Correlation Between Specific Genetic Mutations and Aortic Diameter

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

Study Arms (2)

Aortic Dilatation Group

Patients with ascending aortic diameter between 4.0-5.0 cm Retrospectively analyzed for syndromic and non-syndromic genetic mutations using NGS

Control Group

Population-based exome data from individuals without aortic disease Used for comparison of variant frequency and mutation prevalence

Eligibility Criteria

• Age: 20 Years - 70 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

This study includes adult patients aged 20 to 70 years who were evaluated at the Samsun Training and Research Hospital's Cardiovascular Surgery, Cardiology, or Medical Genetics outpatient clinics between 2020 and 2025. All patients have an ascending aortic diameter between 4.0 and 5.0 cm on echocardiography or thoracoabdominal CT imaging and underwent genetic testing for syndromic or non-syndromic aortopathy panels. Patients with prior aortic surgery, known genetic syndromes, acute aortic events (rupture or dissection), or vasculitis were excluded.

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• Samsun University: lead

Study Sites (1)

Samsun University Faculty of Medicine

Samsun, 55090, Turkey (Türkiye)

Location

Biospecimen

Retention: SAMPLES WITH DNA

Peripheral blood samples will be retained for DNA extraction. Genomic DNA isolated from these samples will be used for targeted analysis of syndromic and non-syndromic aortopathy gene panels using Next Generation Sequencing (NGS). All biospecimens will be stored at -80°C and may be used for future genetic analysis related to aortic disease

MeSH Terms

Conditions

Aortic Aneurysm, Thoracic; Aortic Diseases

Condition Hierarchy (Ancestors)

Aortic Aneurysm; Aneurysm; Vascular Diseases; Cardiovascular Diseases

Study Officials

• Özlem Sezer

  Samsun University Faculty of medicine

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 14, 2025
• First Posted: June 24, 2025
• Study Start: January 1, 2024
• Primary Completion: January 1, 2026
• Study Completion: January 1, 2026
• Last Updated: June 27, 2025

Record last verified: 2025-06

Locations

TU (1)