| Přispěvatelé: |
Russo, P., Andria, G., Baldinelli, A., Boffi, M. L., Cerini, E., Della Casa, R., Imperatori, A., Luciani, G. B., Morra, E., Parini, R., Pieroni, M., Prioli, M. A., Ragni, L., Rapezzi, C., Rinelli, G., Rubino, M., Sarais, C., Sciacca, P., Seddio, F., Limongelli, G. |
| Popis: |
Mucopolysaccharidoses (MPS) represent a group of rare lysosomal storage disorders, with a heterogeneous clinical presentation in terms of inheritance (autosomal and X-linked recessive), age of onset (infants, children, and adults), systemic and cardiac manifestations (mild to severe disease forms). Evidence-based recommendations on the diagnosis and management of cardiovascular disease in MPS are scarce. GICEM (Gruppo Italiano Cardiologi Esperti Malattie Metaboliche) is a group of cardiologists, cardiac surgeons and pediatricians with a specific expertise in metabolic diseases including MPS. In this paper, we report our experience and recommendations on the diagnosis and management of cardiovascular aspects in MPS, with a tailored approach based on current evidence, and taking into account MPS phenotype (particularly, I, II, IVa, VI), age at presentation, and severity of systemic and cardiac manifestations. |
