Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy
10.5090/kjtcs.2019.52.5.376
- Author:
Kushtrim DISHA
1
;
Solveig SCHULZ
;
Martin BREUER
;
Tamer OWAIS
;
Evaldas GIRDAUSKAS
;
Thomas KUNTZE
Author Information
1. Department of Cardiac Surgery, Central Hospital Bad Berka, Bad Berka, Germany. k_disha@hotmail.com
- Publication Type:Case Report
- Keywords:
Loeys-Dietz syndrome;
B-cell lymphoma;
Aortic aneurysm, thoracic
- MeSH:
Aortic Aneurysm, Thoracic;
Drug Therapy;
Genetic Counseling;
Hematologic Neoplasms;
Humans;
Loeys-Dietz Syndrome;
Lymphoma, B-Cell;
Mutation, Missense
- From:The Korean Journal of Thoracic and Cardiovascular Surgery
2019;52(5):376-379
- CountryRepublic of Korea
- Language:English
-
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 malignancy has so far neither been proposed nor proven.
