Cargando…
Cardiomyocyte Dysfunction in Inherited Cardiomyopathies
Inherited cardiomyopathies form a heterogenous group of disorders that affect the structure and function of the heart. Defects in the genes encoding sarcomeric proteins are associated with various perturbations that induce contractile dysfunction and promote disease development. In this review we ai...
Autores principales: | , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8541428/ https://www.ncbi.nlm.nih.gov/pubmed/34681814 http://dx.doi.org/10.3390/ijms222011154 |
_version_ | 1784589227816648704 |
---|---|
author | Hassoun, Roua Budde, Heidi Mügge, Andreas Hamdani, Nazha |
author_facet | Hassoun, Roua Budde, Heidi Mügge, Andreas Hamdani, Nazha |
author_sort | Hassoun, Roua |
collection | PubMed |
description | Inherited cardiomyopathies form a heterogenous group of disorders that affect the structure and function of the heart. Defects in the genes encoding sarcomeric proteins are associated with various perturbations that induce contractile dysfunction and promote disease development. In this review we aimed to outline the functional consequences of the major inherited cardiomyopathies in terms of myocardial contraction and kinetics, and to highlight the structural and functional alterations in some sarcomeric variants that have been demonstrated to be involved in the pathogenesis of the inherited cardiomyopathies. A particular focus was made on mutation-induced alterations in cardiomyocyte mechanics. Since no disease-specific treatments for familial cardiomyopathies exist, several novel agents have been developed to modulate sarcomere contractility. Understanding the molecular basis of the disease opens new avenues for the development of new therapies. Furthermore, the earlier the awareness of the genetic defect, the better the clinical prognostication would be for patients and the better the prevention of development of the disease. |
format | Online Article Text |
id | pubmed-8541428 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-85414282021-10-24 Cardiomyocyte Dysfunction in Inherited Cardiomyopathies Hassoun, Roua Budde, Heidi Mügge, Andreas Hamdani, Nazha Int J Mol Sci Review Inherited cardiomyopathies form a heterogenous group of disorders that affect the structure and function of the heart. Defects in the genes encoding sarcomeric proteins are associated with various perturbations that induce contractile dysfunction and promote disease development. In this review we aimed to outline the functional consequences of the major inherited cardiomyopathies in terms of myocardial contraction and kinetics, and to highlight the structural and functional alterations in some sarcomeric variants that have been demonstrated to be involved in the pathogenesis of the inherited cardiomyopathies. A particular focus was made on mutation-induced alterations in cardiomyocyte mechanics. Since no disease-specific treatments for familial cardiomyopathies exist, several novel agents have been developed to modulate sarcomere contractility. Understanding the molecular basis of the disease opens new avenues for the development of new therapies. Furthermore, the earlier the awareness of the genetic defect, the better the clinical prognostication would be for patients and the better the prevention of development of the disease. MDPI 2021-10-15 /pmc/articles/PMC8541428/ /pubmed/34681814 http://dx.doi.org/10.3390/ijms222011154 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Hassoun, Roua Budde, Heidi Mügge, Andreas Hamdani, Nazha Cardiomyocyte Dysfunction in Inherited Cardiomyopathies |
title | Cardiomyocyte Dysfunction in Inherited Cardiomyopathies |
title_full | Cardiomyocyte Dysfunction in Inherited Cardiomyopathies |
title_fullStr | Cardiomyocyte Dysfunction in Inherited Cardiomyopathies |
title_full_unstemmed | Cardiomyocyte Dysfunction in Inherited Cardiomyopathies |
title_short | Cardiomyocyte Dysfunction in Inherited Cardiomyopathies |
title_sort | cardiomyocyte dysfunction in inherited cardiomyopathies |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8541428/ https://www.ncbi.nlm.nih.gov/pubmed/34681814 http://dx.doi.org/10.3390/ijms222011154 |
work_keys_str_mv | AT hassounroua cardiomyocytedysfunctionininheritedcardiomyopathies AT buddeheidi cardiomyocytedysfunctionininheritedcardiomyopathies AT muggeandreas cardiomyocytedysfunctionininheritedcardiomyopathies AT hamdaninazha cardiomyocytedysfunctionininheritedcardiomyopathies |