International Registry of Patients Carrying <i>TGFBR1</i> or <i>TGFBR2</i> Mutations

Abstract

Patients with TGFBR1 or TGFBR2 mutations show the same prevalence of systemic features and the same global survival. Preventive aortic surgery at a diameter of 45 mm, lowered toward 40 in females with low body surface area, TGFBR2 mutation, and severe extra-aortic features may be considered.