Genetic Risk Stratification in Ascending Aortic Dilatation Below Surgical Threshold: A Retrospective Single-Center Study
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 发起方
- 入组人数
- 102
- 试验地点
- 1
- 主要终点
- Frequency of Syndromic and Non-Syndromic Genetic Mutations
研究概览
简要总结
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).
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 20 Years 至 70 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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
排除标准
- •Age <20 or >70
- •Emergency surgical indication
- •Active infection or metabolic instability
- •No available genetic test results
结局指标
主要结局
Frequency of Syndromic and Non-Syndromic Genetic Mutations
时间窗: 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.
次要结局
- Correlation Between Specific Genetic Mutations and Aortic Diameter(12 months (Statistical correlation coefficients and p-values for associations between variants and patient characteristics.))