Study of Genetic Factors in Acute Aortic Dissection and Thoracic Aortic Aneurysm in Adults Undergoing Surgery

What this Trial Is About

This research aims to explore the genetic factors associated with the development of thoracic aortic aneurysm TAA and acute aortic dissection aAD in individuals without a history or syndromic features such as Marfan syndrome, Ehlers-Danlos syndrome, or Turner syndrome. The study will use whole genome sequencing to analyze patients who have documented aortic aneurysm or aortic dissection. Understanding these genetic links is important because aAD is a life-threatening condition with high mortality, and better risk prediction tools are needed to identify high-risk patients for early intervention. The study involves an observational cohort of patients who underwent or will undergo surgery for aAD or TAA at the University Hospital Basel starting from 2015 and continuing into 2024. Researchers will collect molecular genetic data and combine it with standard clinical and imaging data including computed tomography angiography CTA, transesophageal echocardiogram TEE, and transthoracic echocardiogram TTE. This combined data will be used to refine risk stratification and improve individualized management of patients with TAA and aAD. Participants will be involved in genetic testing and clinical follow-up for up to four years. Researchers will assess the association between gene variants and the prevalence of TAA andor aAD, investigate genetic profiles from surgical tissue samples, and analyze the relationship between imaging findings, tissue pathology, and gene variants. The goal is to establish a risk prediction model for aAD and TAA based on genetic, clinical, and imaging information, helping to tailor patient care and therapy.

Genetic Architecture of Acute Aortic Syndromes and Aortic Aneurysm.