The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses
The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses
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DOI：
10.1017/s1047951109003576
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发表时间：
2009-04-01
影响因子：
1
通讯作者：
Parini, Rossella
中科院分区：
文献类型：
--
作者：
Fesslova, Vlasta;Corti, Paola;Parini, Rossella
目的：分析粘多糖血症的心脏受累及其进展，并评估新治疗策略的短期影响。患者和方法：我们对57例不同类型粘多糖沉积症患者进行了超声心动图研究，特别是I、II、III、IV和VI型粘多糖沉积症，诊断心脏受累时的中位年龄为5年，随访时间中位数为4.6年，范围为0.9 - 21.2年。我们使用了一个评分系统，沿着所谓的delta评分，来量化基线和末次检查时受累的严重程度，并绘制其随时间的进展。结果：心脏受累的病例由最后一次检查时的59.6%上升到87.3%。评分随年龄增长而增加，并根据粘多糖样沉积症的具体类型而有显著差异。二尖瓣受累最常见，通常与主动脉瓣异常和/或左心室肥大相关。第一类和第二类的患者比第三类和第四类的患者受累更严重。接受造血干细胞移植的患者在最初恶化后似乎趋于稳定，而相比之下，我们无法证明酶替代疗法对心脏病进展的影响，这可能是因为接受这种治疗的患者中位年龄更高，心脏病更严重，随访时间更短。结论：在超过一半的被确定为患有粘多糖样沉积症的患者中，早期存在心脏受累，并且通常进展，在第一和第二类型的疾病中更频繁和严重。需要更长时间的随访来证明新疗法引起的任何显着改善。
Objective: To analyze cardiac involvement and its progression in mucopolysaccharidoses, and to assess the short term impact of new therapeutic strategies. Patients and methods: We studied echocardiographically 57 patients with various types of mucopolysaccharidoses, specifically types I, II, III, IV and VI, with a median age at the diagnosis of cardiac involvement of 5 years, following them for a median of 4.6 years, with a range from 0.9 to 21.2 years. We used a scoring system, along with the so-called delta score, to quantify the severity of involvement at baseline and at last examination, and to chart their progression over time. Results: Cases with cardiac involvement increased from 59.6% to 87.3% at the last examination. The scores increased with age, and were significantly different according to the specific type of mucopolysaccharidosis. Involvement of the mitral valve was most common, often associated with an aortic valvar anomaly and/or left ventricular hypertrophy. Patients with the first and second types had more severe involvement than those with the third or fourth types. Patients undergoing transplantation of haematopoietic stem cells seem to stabilize after an initial worsening while, in contrast, we were unable to demonstrate an effect of enzyme replacement therapy on the progression of the cardiac disease, possibly because those receiving such treatment had a higher median age, more severe cardiac disease and shorter follow-up. Conclusions: Cardiac involvement was present early In more than a half of the patients identified as having mucopolysaccharidosis, and generally progressed, being more frequent and severe in the first and second types of the disease. Longer follow-up is needed to demonstrate any significant improvement induced by new therapies.