Cross Benjamin, Stepien Karolina M, Gadepalli Chaitanya, Kharabish Ahmed, Woolfson Peter, Tol Govind, Jenkins Petra
Adult Congenital Heart Disease Department, Liverpool Heart and Chest Hospital, Liverpool, United Kingdom.
Adult Inherited Metabolic Diseases Department, Salford Royal NHS Foundation Trust, Salford, United Kingdom.
Front Cardiovasc Med. 2022 Apr 4;9:851016. doi: 10.3389/fcvm.2022.851016. eCollection 2022.
Mucopolysaccharidoses (MPS) are rare lysosomal storage diseases characterized by multiorgan involvement and shortened longevity. Due to advances in therapies such as enzyme replacement therapy and haematopoietic stem cell therapy, life expectancy has increased posing newer challenges to patients and health professionals. One such challenge is cardiovascular manifestations of MPS, which can be life limiting and cause reduction in quality of life. Any cardiovascular intervention mandates comprehensive, multi-systemic work-up by specialist teams to optimize outcome. We highlight the importance of multidisciplinary evaluation of adult MPS patients requiring cardiovascular intervention. Clinical assessments and investigations are discussed, with a focus on the cardiac, anesthetic, airway, respiratory, radiological and psychosocial factors.
黏多糖贮积症(MPS)是罕见的溶酶体贮积病,其特征为多器官受累且寿命缩短。由于酶替代疗法和造血干细胞疗法等治疗方法的进步,患者预期寿命有所增加,这给患者和医护人员带来了新的挑战。其中一个挑战就是MPS的心血管表现,它可能会限制生命并导致生活质量下降。任何心血管干预都需要专业团队进行全面、多系统的检查,以优化治疗结果。我们强调了对需要进行心血管干预的成年MPS患者进行多学科评估的重要性。本文讨论了临床评估和检查,重点关注心脏、麻醉、气道、呼吸、放射学和社会心理因素。