| Autor: |
Rosser BA; Department of Congenital Heart Surgery, Royal Brompton Hospital, London SW3 6NP, UK., Chan C; Department of Congenital Heart Surgery, Royal Brompton Hospital, London SW3 6NP, UK.; Department of Surgery and Cancer, Imperial College London, St. Mary's Hospital, London W2 1NY, UK., Hoschtitzky A; Department of Congenital Heart Surgery, Royal Brompton Hospital, London SW3 6NP, UK. |
| Jazyk: |
angličtina |
| Zdroj: |
Biomedicines [Biomedicines] 2022 Feb 04; Vol. 10 (2). Date of Electronic Publication: 2022 Feb 04. |
| DOI: |
10.3390/biomedicines10020375 |
| Abstrakt: |
Mucopolysaccharidoses are extremely rare diseases that are frequently presenting with structural heart problems of the aortic and mitral valve in combination with myocardial dysfunction. In a substantial proportion, this leads to heart failure and is a leading cause of death in these patients. As this glycosaminoglycan degradation defect is associated with other conditions strongly influencing the perioperative risk and choice of surgical technique, multidisciplinary planning is crucial to improve short- and long-term outcomes. The extensive variance in clinical presentation between different impaired enzymes, and further within subgroups, calls for personalised treatment plans. Enzyme replacement therapies and bone marrow transplantation carry great potential as they may significantly abrogate the progress of the disease and as such reduce the clinical burden and improve life expectancy. Nevertheless, structural heart interventions may be required. We reviewed the existing literature of the less than 50 published cases regarding surgical management, technique, and choice of prostheses. Although improvement in therapy has shown promising results in protecting valvar tissue when initiated in infancy, concerns regarding stability of this effect and durability of biological prostheses remain. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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