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An Overview of Investigational and Experimental Drug Treatment Strategies for Marfan Syndrome
Marfan syndrome (MFS) is a heritable connective tissue disorder caused by pathogenic variants in the gene coding for the extracellular matrix protein fibrillin-1. While the disease affects multiple organ systems, the most life-threatening manifestations are aortic aneurysms leading to dissection and...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8366784/ https://www.ncbi.nlm.nih.gov/pubmed/34408505 http://dx.doi.org/10.2147/JEP.S265271 |
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author | Deleeuw, Violette De Clercq, Adelbert De Backer, Julie Sips, Patrick |
author_facet | Deleeuw, Violette De Clercq, Adelbert De Backer, Julie Sips, Patrick |
author_sort | Deleeuw, Violette |
collection | PubMed |
description | Marfan syndrome (MFS) is a heritable connective tissue disorder caused by pathogenic variants in the gene coding for the extracellular matrix protein fibrillin-1. While the disease affects multiple organ systems, the most life-threatening manifestations are aortic aneurysms leading to dissection and rupture. Other cardiovascular complications, including mitral valve prolapse, primary cardiomyopathy, and arrhythmia, also occur more frequently in patients with MFS. The standard medical care relies on cardiovascular imaging at regular intervals, along with pharmacological treatment with β-adrenergic receptor blockers aimed at reducing the aortic growth rate. When aortic dilatation reaches a threshold associated with increased risk of dissection, prophylactic surgical aortic replacement is performed. Although current clinical management has significantly improved the life expectancy of patients with MFS, no cure is available and fatal complications still occur, underscoring the need for new treatment options. In recent years, preclinical studies have identified a number of potentially promising therapeutic targets. Nevertheless, the translation of these results into clinical practice has remained challenging. In this review, we present an overview of the currently available knowledge regarding the underlying pathophysiological processes associated with MFS cardiovascular pathology. We then summarize the treatment options that have been developed based on this knowledge and are currently in different stages of preclinical or clinical development, provide a critical review of the limitations of current studies and highlight potential opportunities for future research. |
format | Online Article Text |
id | pubmed-8366784 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Dove |
record_format | MEDLINE/PubMed |
spelling | pubmed-83667842021-08-17 An Overview of Investigational and Experimental Drug Treatment Strategies for Marfan Syndrome Deleeuw, Violette De Clercq, Adelbert De Backer, Julie Sips, Patrick J Exp Pharmacol Review Marfan syndrome (MFS) is a heritable connective tissue disorder caused by pathogenic variants in the gene coding for the extracellular matrix protein fibrillin-1. While the disease affects multiple organ systems, the most life-threatening manifestations are aortic aneurysms leading to dissection and rupture. Other cardiovascular complications, including mitral valve prolapse, primary cardiomyopathy, and arrhythmia, also occur more frequently in patients with MFS. The standard medical care relies on cardiovascular imaging at regular intervals, along with pharmacological treatment with β-adrenergic receptor blockers aimed at reducing the aortic growth rate. When aortic dilatation reaches a threshold associated with increased risk of dissection, prophylactic surgical aortic replacement is performed. Although current clinical management has significantly improved the life expectancy of patients with MFS, no cure is available and fatal complications still occur, underscoring the need for new treatment options. In recent years, preclinical studies have identified a number of potentially promising therapeutic targets. Nevertheless, the translation of these results into clinical practice has remained challenging. In this review, we present an overview of the currently available knowledge regarding the underlying pathophysiological processes associated with MFS cardiovascular pathology. We then summarize the treatment options that have been developed based on this knowledge and are currently in different stages of preclinical or clinical development, provide a critical review of the limitations of current studies and highlight potential opportunities for future research. Dove 2021-08-11 /pmc/articles/PMC8366784/ /pubmed/34408505 http://dx.doi.org/10.2147/JEP.S265271 Text en © 2021 Deleeuw et al. https://creativecommons.org/licenses/by-nc/3.0/This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/ (https://creativecommons.org/licenses/by-nc/3.0/) ). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php). |
spellingShingle | Review Deleeuw, Violette De Clercq, Adelbert De Backer, Julie Sips, Patrick An Overview of Investigational and Experimental Drug Treatment Strategies for Marfan Syndrome |
title | An Overview of Investigational and Experimental Drug Treatment Strategies for Marfan Syndrome |
title_full | An Overview of Investigational and Experimental Drug Treatment Strategies for Marfan Syndrome |
title_fullStr | An Overview of Investigational and Experimental Drug Treatment Strategies for Marfan Syndrome |
title_full_unstemmed | An Overview of Investigational and Experimental Drug Treatment Strategies for Marfan Syndrome |
title_short | An Overview of Investigational and Experimental Drug Treatment Strategies for Marfan Syndrome |
title_sort | overview of investigational and experimental drug treatment strategies for marfan syndrome |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8366784/ https://www.ncbi.nlm.nih.gov/pubmed/34408505 http://dx.doi.org/10.2147/JEP.S265271 |
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