{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T02:56:38Z","timestamp":1783997798815,"version":"3.55.0"},"reference-count":58,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,6,10]],"date-time":"2022-06-10T00:00:00Z","timestamp":1654819200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Cardiovasc. Med."],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.3389\/fcvm.2022.907175","type":"journal-article","created":{"date-parts":[[2022,6,10]],"date-time":"2022-06-10T05:12:34Z","timestamp":1654837954000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":7,"title":["Unmet Cardiac Clinical Needs in Adult Mucopolysaccharidoses"],"prefix":"10.3389","volume":"9","author":[{"given":"Karolina M.","family":"Stepien","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth A.","family":"Braunlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,6,10]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13023-017-0730-1","article-title":"Health-related quality of life among adults with diverse rare disorders","volume":"12","author":"Bogart","year":"2017","journal-title":"Orphanet J Rare Dis."},{"key":"B2","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1038\/s41431-019-0508-0","article-title":"Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database","volume":"28","author":"Nguengang Wakap","year":"2020","journal-title":"Eur J Hum Genet."},{"key":"B3","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1007\/8904_2017_87","article-title":"Coping strategies, stress, and support needs in caregivers of children with mucopolysaccharidosis","volume":"42","author":"Schadewald","year":"2018","journal-title":"JIMD Rep."},{"key":"B4","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1186\/s13023-021-01954-7","article-title":"A questionnaire-based study to comprehensively assess the status quo of rare disease patients and care-givers in China","volume":"16","author":"Li","year":"2021","journal-title":"Orphanet J Rare Dis."},{"key":"B5","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1136\/adc.72.3.263","article-title":"The mucopolysaccharidosis: a clinical review and guide to management","volume":"72","author":"Wraith","year":"1995","journal-title":"Arch Dis Child."},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2021-108061","article-title":"Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency","volume":"16","author":"Verheyen","year":"2021","journal-title":"J Med Genet"},{"key":"B7","unstructured":"RARE Facts2020"},{"key":"B8","doi-asserted-by":"publisher","first-page":"1580","DOI":"10.1016\/j.jval.2020.06.020","article-title":"Access and unmet needs of orphan drugs in 194 countries and 6 areas: a global policy review with content analysis","volume":"23","author":"Chan","year":"2020","journal-title":"Value Health."},{"key":"B9","doi-asserted-by":"publisher","first-page":"e000172","DOI":"10.1136\/bmjpo-2017-000172","article-title":"Rare disease: a national survey of paediatricians' experiences and needs","volume":"1","author":"Zurynski","year":"2017","journal-title":"BMJ Paediatr Open."},{"key":"B10","doi-asserted-by":"publisher","first-page":"5100","DOI":"10.2174\/1381612826666200724161504","article-title":"Therapeutic options for mucopolysaccharidosis II (Hunter Disease)","volume":"26","author":"Kubaski","year":"2020","journal-title":"Curr Pharm Des."},{"key":"B11","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1016\/j.ymgme.2006.12.012","article-title":"Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid","volume":"91","author":"Dickson","year":"2007","journal-title":"Mol Genet Metab."},{"key":"B12","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1016\/j.ymgme.2013.11.015","article-title":"Early initiation of enzyme replacement therapy for the mucopolysaccharidoses, Minireview","volume":"111","author":"Muenzer","year":"2014","journal-title":"Mol Genet Metab."},{"key":"B13","doi-asserted-by":"crossref","DOI":"10.1002\/9781118514672.ch12","article-title":"The mucopolysaccharidoses","volume-title":"Lysosomal Storage Disorders. 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