Unmet Cardiac Clinical Needs in Adult Mucopolysaccharidoses
The Mucopolysaccharidoses (MPSs) are a group of heterogenous disorders with complex multisystemic presentations. Although Haematopoietic Cell Transplantation (HCT) and Enzyme Replacement Therapy (ERT) have extended the lifespan of individuals affected with MPS well into adulthood, reversal of pre-ex...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-06-01
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| Series: | Frontiers in Cardiovascular Medicine |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fcvm.2022.907175/full |
| _version_ | 1818471056614096896 |
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| author | Karolina M. Stepien Elizabeth A. Braunlin |
| author_facet | Karolina M. Stepien Elizabeth A. Braunlin |
| author_sort | Karolina M. Stepien |
| collection | DOAJ |
| description | The Mucopolysaccharidoses (MPSs) are a group of heterogenous disorders with complex multisystemic presentations. Although Haematopoietic Cell Transplantation (HCT) and Enzyme Replacement Therapy (ERT) have extended the lifespan of individuals affected with MPS well into adulthood, reversal of pre-existing cardiac, skeletal and neurocognitive deficits does not occur, so there are no truly curative treatments available to these patients at present. The medical and surgical management of cardiovascular problems in adults with MPS is complicated by these pre-existing comorbidities, requiring the involvement of multidisciplinary and multispecialty perioperative teams. This review sets out to describe the unmet cardiac needs in adults with MPS disorders including the lack of effective treatments, monitoring guidelines, and the challenges regarding expertise and training, and psychosocial support. |
| first_indexed | 2024-04-13T21:45:57Z |
| format | Article |
| id | doaj.art-0f961f9d060148289dcdaf2001cb76a0 |
| institution | Directory Open Access Journal |
| issn | 2297-055X |
| language | English |
| last_indexed | 2024-04-13T21:45:57Z |
| publishDate | 2022-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cardiovascular Medicine |
| spelling | doaj.art-0f961f9d060148289dcdaf2001cb76a02022-12-22T02:28:34ZengFrontiers Media S.A.Frontiers in Cardiovascular Medicine2297-055X2022-06-01910.3389/fcvm.2022.907175907175Unmet Cardiac Clinical Needs in Adult MucopolysaccharidosesKarolina M. Stepien0Elizabeth A. Braunlin1Inherited Metabolic Diseases Department, Salford Royal NHS Foundation Trust, Salford, United KingdomDepartment of Pediatrics, University of Minneapolis, Minneapolis, MN, United StatesThe Mucopolysaccharidoses (MPSs) are a group of heterogenous disorders with complex multisystemic presentations. Although Haematopoietic Cell Transplantation (HCT) and Enzyme Replacement Therapy (ERT) have extended the lifespan of individuals affected with MPS well into adulthood, reversal of pre-existing cardiac, skeletal and neurocognitive deficits does not occur, so there are no truly curative treatments available to these patients at present. The medical and surgical management of cardiovascular problems in adults with MPS is complicated by these pre-existing comorbidities, requiring the involvement of multidisciplinary and multispecialty perioperative teams. This review sets out to describe the unmet cardiac needs in adults with MPS disorders including the lack of effective treatments, monitoring guidelines, and the challenges regarding expertise and training, and psychosocial support.https://www.frontiersin.org/articles/10.3389/fcvm.2022.907175/fulladult mucopolysaccharidosescardiacunmet needstherapiestransition |
| spellingShingle | Karolina M. Stepien Elizabeth A. Braunlin Unmet Cardiac Clinical Needs in Adult Mucopolysaccharidoses Frontiers in Cardiovascular Medicine adult mucopolysaccharidoses cardiac unmet needs therapies transition |
| title | Unmet Cardiac Clinical Needs in Adult Mucopolysaccharidoses |
| title_full | Unmet Cardiac Clinical Needs in Adult Mucopolysaccharidoses |
| title_fullStr | Unmet Cardiac Clinical Needs in Adult Mucopolysaccharidoses |
| title_full_unstemmed | Unmet Cardiac Clinical Needs in Adult Mucopolysaccharidoses |
| title_short | Unmet Cardiac Clinical Needs in Adult Mucopolysaccharidoses |
| title_sort | unmet cardiac clinical needs in adult mucopolysaccharidoses |
| topic | adult mucopolysaccharidoses cardiac unmet needs therapies transition |
| url | https://www.frontiersin.org/articles/10.3389/fcvm.2022.907175/full |
| work_keys_str_mv | AT karolinamstepien unmetcardiacclinicalneedsinadultmucopolysaccharidoses AT elizabethabraunlin unmetcardiacclinicalneedsinadultmucopolysaccharidoses |