Transforming growth factor-beta receptor type II mutation in a patient with bicuspid aortic valve disease and intraoperative aortic dissection.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 21524434.
- Also identified by DOI 10.1016/j.athoracsur.2010.12.060.
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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.
Medical subject headings
- Aortic Dissection
- Aortic Aneurysm, Thoracic
- Aortic Valve
- Intraoperative Complications
- Mitral Valve
- Protein Serine-Threonine Kinases
- Receptors, Transforming Growth Factor beta