Aortic Dilatation Under 5 cm: Genetic Risk Mapping

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Total Enrollment

102 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-01-01

Study Completion Date

2026-01-01

Brief Summary

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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).

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Detailed Description

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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.

Conditions

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Ascending Aortic Dilatation Aortic Aneurysm, Thoracic Aortic Diseases

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Study Groups

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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

No interventions assigned to this group

Control Group

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

No interventions assigned to this group

Eligibility Criteria

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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