SMAD3pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium

Pathogenic variants in SMAD3 cause thoracic aortic aneurysms and dissections, along with aneurysms and rupture of other arteries. Here, we examined differences in clinical presentation of aortic events (dissection or surgical repair of an aneurysm) with respect to age and variant type in an international cohort of individuals with SMAD3 variants.Aortic status and events, vital status and clinical features were abstracted through retrospective...