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The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management
PURPOSE OF REVIEW: Marfan syndrome (MFS) is an autosomal dominant heritable disorder of fibrillin-1 (FBN1) with predominantly ocular, cardiovascular, and musculoskeletal manifestations that has a population prevalence of approximately 1 in 5–10,000 (Chiu et al. Mayo Clin Proc. 89(1):34–42, 146, Diet...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Springer US
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8626407/ https://www.ncbi.nlm.nih.gov/pubmed/34825999 http://dx.doi.org/10.1007/s11926-021-01045-3 |
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author | Pollock, Lily Ridout, Ashley Teh, James Nnadi, Colin Stavroulias, Dionisios Pitcher, Alex Blair, Edward Wordsworth, Paul Vincent, Tonia L. |
author_facet | Pollock, Lily Ridout, Ashley Teh, James Nnadi, Colin Stavroulias, Dionisios Pitcher, Alex Blair, Edward Wordsworth, Paul Vincent, Tonia L. |
author_sort | Pollock, Lily |
collection | PubMed |
description | PURPOSE OF REVIEW: Marfan syndrome (MFS) is an autosomal dominant heritable disorder of fibrillin-1 (FBN1) with predominantly ocular, cardiovascular, and musculoskeletal manifestations that has a population prevalence of approximately 1 in 5–10,000 (Chiu et al. Mayo Clin Proc. 89(1):34–42, 146, Dietz 3, Loeys et al. J Med Genet. 47(7):476–85, 4). RECENT FINDINGS: The vascular complications of MFS still pose the greatest threat, but effective management options, such as regular cardiac monitoring and elective surgical intervention, have reduced the risk of life-threatening cardiovascular events, such as aortic dissection. Although cardiovascular morbidity and mortality remains high, these improvements in cardiovascular management have extended the life expectancy of those with MFS by perhaps 30–50 years from an estimated mean of 32 years in 1972 (Dietz 3, Gott et al. Eur J Cardio-thoracic Surg. 10(3):149–58, 147, Murdoch et al. N Engl J Med. 286(15):804–8, 148). The musculoskeletal manifestations of MFS, which to date have received less attention, can also have a significant impact on the quality of life and are likely to become more important as the age of the Marfan syndrome population increases (Hasan et al. Int J Clin Pract. 61(8):1308–1320, 127). In addition, musculoskeletal manifestations are often critically important in the diagnosis of MFS. SUMMARY: Here, we review the main clinically relevant and diagnostically useful musculoskeletal features of MFS, which together contribute to the “systemic features score” (referred to hereafter as systemic score), part of the revised Ghent nosology for MFS. We discuss current treatment strategies and highlight the need for a multidisciplinary approach to diagnosis and management. Finally, we review new pharmacological approaches that may be disease modifying and could help to improve the outcome for individuals with this syndrome. |
format | Online Article Text |
id | pubmed-8626407 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Springer US |
record_format | MEDLINE/PubMed |
spelling | pubmed-86264072021-12-01 The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management Pollock, Lily Ridout, Ashley Teh, James Nnadi, Colin Stavroulias, Dionisios Pitcher, Alex Blair, Edward Wordsworth, Paul Vincent, Tonia L. Curr Rheumatol Rep Osteoarthritis (T Griffin and M Goldring, Section Editors) PURPOSE OF REVIEW: Marfan syndrome (MFS) is an autosomal dominant heritable disorder of fibrillin-1 (FBN1) with predominantly ocular, cardiovascular, and musculoskeletal manifestations that has a population prevalence of approximately 1 in 5–10,000 (Chiu et al. Mayo Clin Proc. 89(1):34–42, 146, Dietz 3, Loeys et al. J Med Genet. 47(7):476–85, 4). RECENT FINDINGS: The vascular complications of MFS still pose the greatest threat, but effective management options, such as regular cardiac monitoring and elective surgical intervention, have reduced the risk of life-threatening cardiovascular events, such as aortic dissection. Although cardiovascular morbidity and mortality remains high, these improvements in cardiovascular management have extended the life expectancy of those with MFS by perhaps 30–50 years from an estimated mean of 32 years in 1972 (Dietz 3, Gott et al. Eur J Cardio-thoracic Surg. 10(3):149–58, 147, Murdoch et al. N Engl J Med. 286(15):804–8, 148). The musculoskeletal manifestations of MFS, which to date have received less attention, can also have a significant impact on the quality of life and are likely to become more important as the age of the Marfan syndrome population increases (Hasan et al. Int J Clin Pract. 61(8):1308–1320, 127). In addition, musculoskeletal manifestations are often critically important in the diagnosis of MFS. SUMMARY: Here, we review the main clinically relevant and diagnostically useful musculoskeletal features of MFS, which together contribute to the “systemic features score” (referred to hereafter as systemic score), part of the revised Ghent nosology for MFS. We discuss current treatment strategies and highlight the need for a multidisciplinary approach to diagnosis and management. Finally, we review new pharmacological approaches that may be disease modifying and could help to improve the outcome for individuals with this syndrome. Springer US 2021-11-26 2021 /pmc/articles/PMC8626407/ /pubmed/34825999 http://dx.doi.org/10.1007/s11926-021-01045-3 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Osteoarthritis (T Griffin and M Goldring, Section Editors) Pollock, Lily Ridout, Ashley Teh, James Nnadi, Colin Stavroulias, Dionisios Pitcher, Alex Blair, Edward Wordsworth, Paul Vincent, Tonia L. The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management |
title | The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management |
title_full | The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management |
title_fullStr | The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management |
title_full_unstemmed | The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management |
title_short | The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management |
title_sort | musculoskeletal manifestations of marfan syndrome: diagnosis, impact, and management |
topic | Osteoarthritis (T Griffin and M Goldring, Section Editors) |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8626407/ https://www.ncbi.nlm.nih.gov/pubmed/34825999 http://dx.doi.org/10.1007/s11926-021-01045-3 |
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