Transforming Growth Factor-Beta Receptor Type II Mutation in a Patient With Bicuspid Aortic Valve Disease and Intraoperative Aortic Dissection

Abstract

We report on a patient with familial bicuspid aortic valve disease operated on for proximal aortic aneurysm. The surgery was complicated by intraoperative aortic dissection. Multi-generational genetic analysis demonstrated a mutation in the transforming growth factor-beta receptor type II gene. This case confirms the clinical hypothesis that the proximal aortic disease has a genetic origin in some bicuspid aortic valve patients.