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.

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

This study includes adult patients aged 20 to 70 years who were evaluated at the Samsun Training and Research Hospital's Cardiovascular Surgery, Cardiology, or Medical Genetics outpatient clinics between 2020 and 2025. All patients have an ascending aortic diameter between 4.0 and 5.0 cm on echocardiography or thoracoabdominal CT imaging and underwent genetic testing for syndromic or non-syndromic aortopathy panels. Patients with prior aortic surgery, known genetic syndromes, acute aortic events (rupture or dissection), or vasculitis were excluded.