Ireland
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Active, not recruiting Observational

Aortic Dilatation Under 5 cm: Genetic Risk Mapping

NCT07034430 · tracked via the Priya Life Science Turkey tracker
Phase
Observational
Started
2024-01-01
Last updated
2025-06-27

Condition(s) studied

Ascending Aortic DilatationAortic Aneurysm, ThoracicAortic Diseases

Study 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).

Eligibility

Sex
ALL
Min age
20 Years
Max age
70 Years
Healthy volunteers
No
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

Primary outcome measure(s)

  • Frequency of Syndromic and Non-Syndromic Genetic Mutations — 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.

Trial sites (1)

FacilityCityRegionStatus
Samsun University Faculty of Medicine Samsun Turkey (Türkiye)
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT07034430 on ClinicalTrials.gov ↗ ← All trials in Turkey