1. Undetected Neuromuscular Disease in Patients after Heart Transplantation.
- Author
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Bekele, Biniam Melese, Gazzerro, Elisabetta, Schoenrath, Felix, Falk, Volkmar, Rost, Simone, Hoerning, Selina, Jelting, Yvonne, Zaum, Ann-Kathrin, Spuler, Simone, and Knierim, Jan
- Subjects
HEART transplant recipients ,HEART ,NEUROMUSCULAR diseases ,CARDIAC patients ,MUSCLE weakness ,NEUROLOGIC examination - 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. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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