Montalcino Aortic Consortium Study on Genetics and Risks of Heritable Thoracic Aortic Disease

What this Trial Is About

Researchers are studying heritable thoracic aortic disease H-TAD, which involves genetic mutations affecting the aorta, aiming to better understand the diseases characteristics and risks. This observational study, led by The University of Texas Health Science Center in Houston, seeks to assemble large groups of patients worldwide who have mutations in known H-TAD genes. The goal is to define the disease traits and identify genetic, environmental, and other factors that influence the conditions progression and complications such as aortic dissections. The study will collect and analyze data both retrospectively and prospectively from patients with pathogenic or uncertain significance variants in specific H-TAD genes. This will help characterize all stages of H-TAD, including susceptibility, presymptomatic, and symptomatic phases, along with related complications. No experimental treatments or interventions are given, as the study focuses on gathering detailed clinical information to improve disease management. Participants will be monitored and assessed over 20 years to track events such as aortic dissection, aneurysm requiring repair, aortic dilation, and the rate of aortic growth. Researchers will also record deaths related to aortic events and other cardiovascular complications. Data collection includes clinical evaluations and genetic information, contributing to precise management strategies for those affected by these inherited vascular diseases.

Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease