Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management.
Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management.
复制标题
DOI：
10.1007/s10545-011-9359-8
复制
发表时间：
2011-12
影响因子：
4.2
通讯作者：
Giugliani, Roberto
中科院分区：
文献类型：
--
作者：
Braunlin, Elizabeth A.;Harmatz, Paul R.;Scarpa, Maurizio;Furlanetto, Beatriz;Kampmann, Christoph;Loehr, James P.;Ponder, Katherine P.;Roberts, William C.;Rosenfeld, Howard M.;Giugliani, Roberto
粘多糖贮积症（MPS）是一种遗传性溶酶体贮积症，由缺乏有助于糖胺聚糖（GAG）降解的功能酶引起。GAG的进行性全身沉积导致多器官系统功能障碍，其随沉积的特定GAG和存在的特定酶突变而变化。在所有MPS综合征中均报告了心脏受累，这是一种常见的早期特征，尤其是对于MPS I、II和VI患者。常见心脏瓣膜增厚、功能障碍（左侧瓣膜比右侧瓣膜更严重）和肥大;也可能发生传导异常、冠状动脉和其他血管受累。心脏病的出现是悄无声息的，并且是早期死亡的重要原因。MPS患者的临床检查通常很困难，因为患者的身体，有时是智力限制。心前区杂音的消失并不排除心脏病的存在。超声心动图和心电图是评价瓣膜、心室尺寸和功能的关键诊断技术，建议定期进行。评价冠状动脉受累的最佳技术尚未确定。可以针对MPS患者修改标准的医疗和手术技术，并且全身性治疗如造血干细胞移植和酶替代治疗（ERT）可以改变总体疾病进展，使心室肥大消退并维持心室功能。心脏瓣膜疾病通常无反应，或最好的情况下，稳定，虽然在生命的最初几个月内的ERT可能会防止瓣膜受累，这一事实强调了MPS早期诊断和治疗的重要性。
The mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders caused by the absence of functional enzymes that contribute to the degradation of glycosaminoglycans (GAGs). The progressive systemic deposition of GAGs results in multi-organ system dysfunction that varies with the particular GAG deposited and the specific enzyme mutation(s) present. Cardiac involvement has been reported in all MPS syndromes and is a common and early feature, particularly for those with MPS I, II, and VI. Cardiac valve thickening, dysfunction (more severe for left-sided than for right-sided valves), and hypertrophy are commonly present; conduction abnormalities, coronary artery and other vascular involvement may also occur. Cardiac disease emerges silently and contributes significantly to early mortality. The clinical examination of individuals with MPS is often difficult due to physical and, sometimes, intellectual patient limitations. The absence of precordial murmurs does not exclude the presence of cardiac disease. Echocardiography and electrocardiography are key diagnostic techniques for evaluation of valves, ventricular dimensions and function, which are recommended on a regular basis. The optimal technique for evaluation of coronary artery involvement remains unsettled. Standard medical and surgical techniques can be modified for MPS patients, and systemic therapies such as hematopoietic stem cell transplantation and enzyme replacement therapy (ERT) may alter overall disease progression with regression of ventricular hypertrophy and maintenance of ventricular function. Cardiac valve disease is usually unresponsive or, at best, stabilized, although ERT within the first few months of life may prevent valve involvement, a fact that emphasizes the importance of early diagnosis and treatment in MPS.
登录
查看更多内容
影响因子：
0.6
作者：
Antoniou, Theophani;Kirvassilis, G.;Alivizatos, P.
通讯作者：
Alivizatos, P.
影响因子：
3.8
作者：
Brooks, DA;Gibson, GJ;Hopwood, JJ
通讯作者：
Hopwood, JJ
影响因子：
8
作者：
Giugliani, Roberto;Harmatz, Paul;Wraith, James E.
通讯作者：
Wraith, James E.
影响因子：
1
作者：
Fesslova, Vlasta;Corti, Paola;Parini, Rossella
通讯作者：
Parini, Rossella
影响因子：
2.8
作者：
Braunlin, Elizabeth A.;Berry, James M.;Whitley, Chester B.
通讯作者：
Whitley, Chester B.