Skin biopsy may reveal hidden aneurysm risk in COL5A patients

This study looks at 20 adults with COL5A gene mutations to find out why some get aortic aneurysms (a bulge in the main artery) and others don't. Researchers will take a small skin sample and study the cells to see differences in how they build and organize tissue. The goal is to learn more about the disease and help create better, personalized monitoring in the future.