1. Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy
- Author
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Kushtrim Disha, Solveig Schulz, Martin Breuer, Tamer Owais, Evaldas Girdauskas, and Thomas Kuntze
- Subjects
Loeys-Dietz syndrome ,B-cell lymphoma ,Aortic aneurysm/ thoracic ,Surgery ,RD1-811 - Abstract
Concomitant Loeys-Dietz syndrome (LDS) and hematologic malignancies are exceptionally rare. This is the first report of a patient operated on for aortic root dilation who had been previously diagnosed with LDS and B-cell-lymphoma. After completion of chemotherapy and complete remission, an elective valve-sparing aortic root replacement (using the David-V method) was performed. Due to the positive family history, pre-operative genetic counseling was conducted, and revealed LDS with a TGFBR1 (transforming growth factor beta receptor type I) mutation in 6 probands of the family, albeit in 1 of them posthumously. This missense mutation has been previously described in relation to aortic dissection, but a causative relationship to malig-nancy has so far neither been proposed nor proven.
- Published
- 2019
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