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KMID : 1164620190520050376
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Korean Journal of Thoracic and Cardiovascular Surgery
2019 Volume.52 No. 5 p.376 ~ p.379
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Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy
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Disha Kushtrim
Schulz Solveig
Breuer Martin
Owais Tamer
Girdauskas Evaldas
Kuntze Thomas
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Abstract
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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 malignancy has so far neither been proposed nor proven.
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KEYWORD
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Loeys-Dietz syndrome, B-cell lymphoma, Aortic aneurysm, thoracic
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