Russo Pierluigi, Andria Generoso, Baldinelli Alessandra, Boffi Maria Lucia, Cerini Emma, Della Casa Roberto, Imperatori Andrea, Luciani Giovanni Battista, Morra Elisa, Parini Rossella, Pieroni Maurizio, Prioli Maria Antonia, Ragni Luca, Rapezzi Claudio, Rinelli Gabriele, Rubino Marta, Sarais Cristiano, Sciacca Pietro, Seddio Francesco, Limongelli Giuseppe
U.O. Assistenza Specialistica, Distretto Socio-Sanitario Trani-Bisceglie, Ambulatorio di Cardiologia Pediatrica e delle Cardiopatie Congenite e Genetiche nell'Adulto, Trani (BT) - GICEM Core Writers Cardiologi.
Sezione di Pediatria, Dipartimento di Scienze Mediche Traslazionali, Università degli Studi "Federico II", Napoli - GICEM Core Writers Metabolisti.
G Ital Cardiol (Rome). 2017 Sep;18(9):638-649. doi: 10.1714/2741.27947.
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.
黏多糖贮积症（MPS）是一组罕见的溶酶体贮积症，在遗传方式（常染色体隐性和X连锁隐性）、发病年龄（婴儿、儿童和成人）、全身和心脏表现（从轻度到重度疾病形式）方面具有异质性临床表现。关于MPS中心血管疾病诊断和管理的循证推荐很少。GICEM（意大利代谢疾病专家心脏病学小组）是一群在包括MPS在内的代谢疾病方面具有专业特长的心脏病学家、心脏外科医生和儿科医生。在本文中，我们报告了我们在MPS心血管方面诊断和管理的经验及推荐，采用基于当前证据的定制方法，并考虑到MPS表型（特别是I型、II型、IVa型、VI型）、就诊年龄以及全身和心脏表现的严重程度。
