ijms-logo

Journal Browser

Journal Browser

Cardiomyopathies: Molecular Insights and Future Perspectives

Editors


E-Mail Website
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

E-Mail Website
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

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the collection website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • cardiomyopathies
  • molecular mechanisms
  • precision medicine
  • gene therapy
  • cell-based therapies

Published Papers (1 paper)

2024

17 pages, 2357 KiB  
Article
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
Int. J. Mol. Sci. 2024, 25(14), 7819; https://doi.org/10.3390/ijms25147819 - 17 Jul 2024
Viewed by 181
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 [...] Read more.
(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. Full article
Show Figures

Figure 1

Back to TopTop