Korean J Thorac Cardiovasc Surg.  2019 Oct;52(5):376-379. 10.5090/kjtcs.2019.52.5.376.

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

• Disha K
• Schulz S
• Breuer M
• Owais T
• Girdauskas E
• Kuntze T

• KMID: 2460473
• DOI: http://doi.org/10.5090/kjtcs.2019.52.5.376

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.

Keyword

Loeys-Dietz syndrome; B-cell lymphoma; Aortic aneurysm, thoracic

MeSH Terms

Aortic Aneurysm, Thoracic
Drug Therapy
Genetic Counseling
Hematologic Neoplasms*
Humans
Loeys-Dietz Syndrome*
Lymphoma, B-Cell
Mutation, Missense