Aortic Aneurysm, Thoracic, Aortic Diseases, Ascending Aortic Dilatation
Conditions
Keywords
Non-Syndromic Aortopathy, Syndromic Aortopathy, Aortic Root Dilatation, Next Generation Sequencing (NGS), Borderline Aortic Diameter
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).
Detailed description
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.
Interventions
None listed
Sponsors
Samsun University
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
20 Years to 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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Correlation Between Specific Genetic Mutations and Aortic Diameter | 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. |
Countries
Turkey (Türkiye)
Outcome results
None listed