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Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy

  • Disha, Kushtrim (Department of Cardiac Surgery, Central Hospital Bad Berka) ;
  • Schulz, Solveig (Center of Human Genetics and Anthropology, Jena University Hospital) ;
  • Breuer, Martin (Department of Cardiac Surgery, Central Hospital Bad Berka) ;
  • Owais, Tamer (Department of Cardiac Surgery, Central Hospital Bad Berka) ;
  • Girdauskas, Evaldas (Department of Cardiovascular Surgery, University Heart Center Hamburg) ;
  • Kuntze, Thomas (Department of Cardiac Surgery, Central Hospital Bad Berka)
  • Received : 2019.03.12
  • Accepted : 2019.08.28
  • Published : 2019.10.05

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, preoperative 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.

Keywords

References

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