Genetic Restrictive Cardiomyopathy: Causes and Consequences—An Integrative Approach

The sarcomere as the smallest contractile unit is prone to alterations in its functional, structural and associated proteins. Sarcomeric dysfunction leads to heart failure or cardiomyopathies like hypertrophic (HCM) or restrictive cardiomyopathy (RCM) etc. Genetic based RCM, a very rare but severe d...

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Autores principales: Cimiotti, Diana, Budde, Heidi, Hassoun, Roua, Jaquet, Kornelia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7827163/
https://www.ncbi.nlm.nih.gov/pubmed/33429969
http://dx.doi.org/10.3390/ijms22020558
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author Cimiotti, Diana
Budde, Heidi
Hassoun, Roua
Jaquet, Kornelia
author_facet Cimiotti, Diana
Budde, Heidi
Hassoun, Roua
Jaquet, Kornelia
author_sort Cimiotti, Diana
collection PubMed
description The sarcomere as the smallest contractile unit is prone to alterations in its functional, structural and associated proteins. Sarcomeric dysfunction leads to heart failure or cardiomyopathies like hypertrophic (HCM) or restrictive cardiomyopathy (RCM) etc. Genetic based RCM, a very rare but severe disease with a high mortality rate, might be induced by mutations in genes of non-sarcomeric, sarcomeric and sarcomere associated proteins. In this review, we discuss the functional effects in correlation to the phenotype and present an integrated model for the development of genetic RCM.
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spelling pubmed-78271632021-01-25 Genetic Restrictive Cardiomyopathy: Causes and Consequences—An Integrative Approach Cimiotti, Diana Budde, Heidi Hassoun, Roua Jaquet, Kornelia Int J Mol Sci Review The sarcomere as the smallest contractile unit is prone to alterations in its functional, structural and associated proteins. Sarcomeric dysfunction leads to heart failure or cardiomyopathies like hypertrophic (HCM) or restrictive cardiomyopathy (RCM) etc. Genetic based RCM, a very rare but severe disease with a high mortality rate, might be induced by mutations in genes of non-sarcomeric, sarcomeric and sarcomere associated proteins. In this review, we discuss the functional effects in correlation to the phenotype and present an integrated model for the development of genetic RCM. MDPI 2021-01-08 /pmc/articles/PMC7827163/ /pubmed/33429969 http://dx.doi.org/10.3390/ijms22020558 Text en © 2021 by the authors. 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 (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Cimiotti, Diana
Budde, Heidi
Hassoun, Roua
Jaquet, Kornelia
Genetic Restrictive Cardiomyopathy: Causes and Consequences—An Integrative Approach
title Genetic Restrictive Cardiomyopathy: Causes and Consequences—An Integrative Approach
title_full Genetic Restrictive Cardiomyopathy: Causes and Consequences—An Integrative Approach
title_fullStr Genetic Restrictive Cardiomyopathy: Causes and Consequences—An Integrative Approach
title_full_unstemmed Genetic Restrictive Cardiomyopathy: Causes and Consequences—An Integrative Approach
title_short Genetic Restrictive Cardiomyopathy: Causes and Consequences—An Integrative Approach
title_sort genetic restrictive cardiomyopathy: causes and consequences—an integrative approach
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7827163/
https://www.ncbi.nlm.nih.gov/pubmed/33429969
http://dx.doi.org/10.3390/ijms22020558
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AT hassounroua geneticrestrictivecardiomyopathycausesandconsequencesanintegrativeapproach
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