Valvulopathies and Genetics: Where are We?
Valvulopathies are among the most common cardiovascular diseases, significantly increasing morbidity and mortality. While many valvular heart diseases are acquired later in life, an important genetic component has been described, particularly in mitral valve prolapse and bicuspid aortic valve. These...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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IMR Press
2024-01-01
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| Series: | Reviews in Cardiovascular Medicine |
| Subjects: | |
| Online Access: | https://www.imrpress.com/journal/RCM/25/2/10.31083/j.rcm2502040 |
| _version_ | 1827338792837578752 |
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| author | Mònica Coll Anna Fernández-Falgueras Anna Iglesias Ramon Brugada |
| author_facet | Mònica Coll Anna Fernández-Falgueras Anna Iglesias Ramon Brugada |
| author_sort | Mònica Coll |
| collection | DOAJ |
| description | Valvulopathies are among the most common cardiovascular diseases, significantly increasing morbidity and mortality. While many valvular heart diseases are acquired later in life, an important genetic component has been described, particularly in mitral valve prolapse and bicuspid aortic valve. These conditions can arise secondary to genetic syndromes such as Marfan disease (associated with mitral valve prolapse) or Turner syndrome (linked to the bicuspid aortic valve) or may manifest in a non-syndromic form. When cardiac valve disease is the primary cause, it can appear in a familial clustering or sporadically, with a clear genetic component. The identification of new genes, regulatory elements, post-transcriptional modifications, and molecular pathways is crucial to identify at-risk familial carriers and for developing novel therapeutic strategies. In the present review we will discuss the numerous genetic contributors of heart valve diseases. |
| first_indexed | 2024-03-07T19:39:30Z |
| format | Article |
| id | doaj.art-90ff7725638d4235bc2c09af0f6890ca |
| institution | Directory Open Access Journal |
| issn | 1530-6550 |
| language | English |
| last_indexed | 2024-03-07T19:39:30Z |
| publishDate | 2024-01-01 |
| publisher | IMR Press |
| record_format | Article |
| series | Reviews in Cardiovascular Medicine |
| spelling | doaj.art-90ff7725638d4235bc2c09af0f6890ca2024-02-29T06:14:30ZengIMR PressReviews in Cardiovascular Medicine1530-65502024-01-012524010.31083/j.rcm2502040S1530-6550(23)01199-7Valvulopathies and Genetics: Where are We?Mònica Coll0Anna Fernández-Falgueras1Anna Iglesias2Ramon Brugada3Unitat de Genòmica i Medicina Personalitzada, Laboratori Clínic Territorial, Institut Català de la Salut, 17003 Salt, SpainUnitat de Genòmica i Medicina Personalitzada, Laboratori Clínic Territorial, Institut Català de la Salut, 17003 Salt, SpainUnitat de Genòmica i Medicina Personalitzada, Laboratori Clínic Territorial, Institut Català de la Salut, 17003 Salt, SpainCardiovascular Genetics Center, University of Girona-Institut d'Investigacions Biomèdiques de Girona (IDIBGI), 17003 Salt, SpainValvulopathies are among the most common cardiovascular diseases, significantly increasing morbidity and mortality. While many valvular heart diseases are acquired later in life, an important genetic component has been described, particularly in mitral valve prolapse and bicuspid aortic valve. These conditions can arise secondary to genetic syndromes such as Marfan disease (associated with mitral valve prolapse) or Turner syndrome (linked to the bicuspid aortic valve) or may manifest in a non-syndromic form. When cardiac valve disease is the primary cause, it can appear in a familial clustering or sporadically, with a clear genetic component. The identification of new genes, regulatory elements, post-transcriptional modifications, and molecular pathways is crucial to identify at-risk familial carriers and for developing novel therapeutic strategies. In the present review we will discuss the numerous genetic contributors of heart valve diseases.https://www.imrpress.com/journal/RCM/25/2/10.31083/j.rcm2502040mitral valve prolapsebicuspid aortic valvenon-syndromic formssyndromic formshereditaryconnective disorders |
| spellingShingle | Mònica Coll Anna Fernández-Falgueras Anna Iglesias Ramon Brugada Valvulopathies and Genetics: Where are We? Reviews in Cardiovascular Medicine mitral valve prolapse bicuspid aortic valve non-syndromic forms syndromic forms hereditary connective disorders |
| title | Valvulopathies and Genetics: Where are We? |
| title_full | Valvulopathies and Genetics: Where are We? |
| title_fullStr | Valvulopathies and Genetics: Where are We? |
| title_full_unstemmed | Valvulopathies and Genetics: Where are We? |
| title_short | Valvulopathies and Genetics: Where are We? |
| title_sort | valvulopathies and genetics where are we |
| topic | mitral valve prolapse bicuspid aortic valve non-syndromic forms syndromic forms hereditary connective disorders |
| url | https://www.imrpress.com/journal/RCM/25/2/10.31083/j.rcm2502040 |
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