At age 10, he was hospitalized for a ruptured ascending aortic aneurysm, and genetic testing identified a pathogenic variant in both TGFBR2 and COL2A1. These findings resulted in a dual diagnosis of Loeys–Dietz syndrome Type 2 and Stickler syndrome. The gene discussed is TGFBR2; the disease is Ascending tubular aorta aneurysm.