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).
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.
Study Type
OBSERVATIONAL
Enrollment
102
Samsun University Faculty of Medicine
Samsun, Turkey (Türkiye)
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.
Time frame: 12 months (Proportion of patients with identified mutations from the genetic panel using NGS.)
Correlation Between Specific Genetic Mutations and Aortic Diameter
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.
Time frame: 12 months (Statistical correlation coefficients and p-values for associations between variants and patient characteristics.)
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