![[feed]](/style/images/feed-icon-14x14.png){kind=icon}
Tools
Tools
Preview |
PDF (Original Article)
- Requires a PDF viewer such as GSview, Xpdf or Adobe Acrobat Reader
2MB |
![[thumbnail of Supporting Materials]](https://edoc.mdc-berlin.de/style/images/fileicons/other.png) |
Other (Supporting Materials)
127kB |
| Item Type: | Article |
|---|---|
| Title: | Undetected neuromuscular disease in patients after heart transplantation |
| Creators Name: | Bekele, B.M., Gazzerro, E., Schoenrath, F., Falk, V., Rost, S., Hoerning, S., Jelting, Y., Zaum, A.K., Spuler, S. and Knierim, J. |
| Abstract: | (1) Heart transplantation (HTX) improves the overall survival and functional status of end-stage heart failure patients with cardiomyopathies (CMPs). The majority of CMPs have genetic causes, and the overlap between CMPs and inherited myopathies is well documented. However, the long-term outcome in skeletal muscle function and possibility of an undiagnosed underlying genetic cause of both a cardiac and skeletal pathology remain unknown. (2) Thirty-nine patients were assessed using open and standardized interviews on muscle function, a quality-of-life (EuroQol EQ-5D-3L) questionnaire, and a physical examination (Medical Research Council Muscle scale). Whole-exome sequencing was completed in three stages for those with skeletal muscle weakness. (3) Seven patients (17.9%) reported new-onset muscle weakness and motor limitations. Objective muscle weakness in the upper and lower extremities was seen in four patients. In three of them, exome sequencing revealed pathogenic/likely pathogenic variants in the genes encoding nexilin, myosin heavy chain, titin, and SPG7. (4) Our findings support a positive long-term outcome of skeletal muscle function in HTX patients. However, 10% of patients showed clinical signs of myopathy due to a possible genetic cause. The integration of genetic testing and standardized neurological assessment of motor function during the peri-HTX period should be considered. |
| Keywords: | Heart Transplantation, Skeletal Muscle Weakness, Cardiomyopathy, Nexilin, Myosin Heavy Chain 7, Titin |
| Source: | International Journal of Molecular Sciences |
| ISSN: | 1422-0067 |
| Publisher: | MDPI |
| Volume: | 25 |
| Number: | 14 |
| Page Range: | 7819 |
| Number of Pages: | 1 |
| Date: | 17 July 2024 |
| Official Publication: | https://doi.org/10.3390/ijms25147819 |
Repository Staff Only: item control page
