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).
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Frequency of Syndromic and Non-Syndromic Genetic Mutations
Timeframe: 12 months (Proportion of patients with identified mutations from the genetic panel using NGS.)