Cardiomyopathies: Molecular Insights and Future Perspectives
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Editors
Dr. Michele Correale
Dr. Michele Correale
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Collection Editor
Cardiology Unit, University Policlinic Hospital Riuniti, Viale Luigi Pinto 1, 71122 Foggia, Italy
Interests: heart failure; pulmonary hypertension; vasculature; cardiovascular medicine; echocardiography; acute myocardial infarction
Dr. Rosa Santacroce
Dr. Rosa Santacroce
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Collection Editor
Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy
Interests: hereditary angioedemas; heart failure
Topical Collection Information
Dear Colleagues,
Cardiomyopathies, diseases of the heart muscle, are a leading cause of heart failure and sudden death. At the molecular level, these diseases are complex, involving genetic and environmental factors. Recent advancements in genetics have identified numerous cardiomyopathy-associated genes, providing new insights into disease mechanisms. Translational research is now focusing on the development of precision medicine approaches, including the use of gene therapy and cell-based therapies. This Topical Collection aims to gather cutting-edge research on cardiomyopathies, emphasizing molecular mechanisms, novel therapeutic strategies and the latest technological advancements.
Dr. Massimo Iacoviello
Dr. Michele Correale
Dr. Rosa Santacroce
Collection Editors
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Keywords
- cardiomyopathies
- molecular mechanisms
- precision medicine
- gene therapy
- cell-based therapies
Published Papers (1 paper)
2024
Open AccessArticle
Undetected Neuromuscular Disease in Patients after Heart Transplantation
by
Biniam Melese Bekele, Elisabetta Gazzerro, Felix Schoenrath, Volkmar Falk, Simone Rost, Selina Hoerning, Yvonne Jelting, Ann-Kathrin Zaum, Simone Spuler and Jan Knierim
Viewed by 277
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
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(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.
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