Abstract
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.
Highlights
Mucopolysaccharidoses (MPS) describe a family of rare inherited lysosomal storage diseases characterised by specific deficiencies in lysosomal enzymes necessary for the degradation of glycosaminoglycans (GAGs)
Despite cardiac involvement being common in MPS, leading to structural heart disease in 49–90% of cases [1], current evidence for surgical management in this cohort is limited to approximately three-dozen case reports
MPS I is classified into three subtypes, representing the spectrum of severity of the clinical manifestation (Hurler syndrome [most severe], Hurler-Scheie syndrome, and Scheie syndrome [least severe]) [2]
Summary
Mucopolysaccharidoses (MPS) describe a family of rare inherited lysosomal storage diseases characterised by specific deficiencies in lysosomal enzymes necessary for the degradation of glycosaminoglycans (GAGs). Despite cardiac involvement being common in MPS, leading to structural heart disease in 49–90% of cases [1], current evidence for surgical management in this cohort is limited to approximately three-dozen case reports. This review discusses the existing literature, focussed on surgical considerations, therapy options including choice of prostheses, timepoint of intervention, and results in patients with this rare disease
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