dc.contributor.author
Bekele, Biniam Melese
dc.contributor.author
Gazzerro, Elisabetta
dc.contributor.author
Schoenrath, Felix
dc.contributor.author
Falk, Volkmar
dc.contributor.author
Rost, Simone
dc.contributor.author
Hoerning, Selina
dc.contributor.author
Jelting, Yvonne
dc.contributor.author
Zaum, Ann-Kathrin
dc.contributor.author
Spuler, Simone
dc.contributor.author
Knierim, Jan
dc.date.accessioned
2025-07-09T15:20:03Z
dc.date.available
2025-07-09T15:20:03Z
dc.identifier.uri
https://refubium.fu-berlin.de/handle/fub188/48187
dc.identifier.uri
http://dx.doi.org/10.17169/refubium-47909
dc.description.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.
en
dc.rights.uri
https://creativecommons.org/licenses/by/4.0/
dc.subject
heart transplantation
en
dc.subject
skeletal muscle weakness
en
dc.subject
cardiomyopathy
en
dc.subject
myosin heavy chain 7
en
dc.subject.ddc
600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit
dc.title
Undetected Neuromuscular Disease in Patients after Heart Transplantation
dc.type
Wissenschaftlicher Artikel
dcterms.bibliographicCitation.articlenumber
7819
dcterms.bibliographicCitation.doi
10.3390/ijms25147819
dcterms.bibliographicCitation.journaltitle
International Journal of Molecular Sciences
dcterms.bibliographicCitation.number
14
dcterms.bibliographicCitation.originalpublishername
MDPI AG
dcterms.bibliographicCitation.volume
25
refubium.affiliation
Charité - Universitätsmedizin Berlin
refubium.resourceType.isindependentpub
no
dcterms.accessRights.openaire
open access
dcterms.bibliographicCitation.pmid
39063061
dcterms.isPartOf.eissn
1422-0067