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Transforming growth factor-beta receptor type II mutation in a patient with bicuspid aortic valve disease and
Evaldas Girdauskas1, Solveig Schulz, Michael A Borger
1Department of Cardiac Surgery, Heart Center, Zentralklinik Bad Berka, Bad Berka, Germany. egirdauskas@web.de
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.
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