Rosser Barbara A, Chan Calvin, Hoschtitzky Andreas
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.
Biomedicines. 2022 Feb 4;10(2):375. doi: 10.3390/biomedicines10020375.
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.
黏多糖贮积症是极为罕见的疾病，常表现为主动脉瓣和二尖瓣的结构性心脏问题，并伴有心肌功能障碍。在很大一部分患者中，这会导致心力衰竭，是这些患者的主要死因。由于这种糖胺聚糖降解缺陷与其他严重影响围手术期风险和手术技术选择的疾病相关，多学科规划对于改善短期和长期预后至关重要。不同受损酶之间以及亚组内临床表现的广泛差异，需要个性化的治疗方案。酶替代疗法和骨髓移植具有巨大潜力，因为它们可能显著阻止疾病进展，从而减轻临床负担并提高预期寿命。尽管如此，可能仍需要进行结构性心脏干预。我们回顾了现有文献中关于手术管理、技术和假体选择的不到50例已发表病例。尽管在婴儿期开始治疗时，治疗改善在保护瓣膜组织方面已显示出有希望的结果，但对这种效果的稳定性和生物假体的耐久性仍存在担忧。
