Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy.
Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy.
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DOI：
10.1097/gim.0b013e3182142966
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发表时间：
2011-07
期刊：
影响因子：
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通讯作者：
Late-Onset Treatment Study Investigators
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文献类型：
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作者：
Forsha D;Li JS;Smith PB;van der Ploeg AT;Kishnani P;Pasquali SK;Late-Onset Treatment Study Investigators
我们评估了心血管异常的患病率以及酶替代疗法（ERT）在晚发型Pompe病患者中的疗效和安全性。90名患者在双盲方案中以2:1随机分为ERT或安慰剂组。在78周的研究期间，在基线和计划间隔获得心电图和超声心动图。描述了基线心血管异常、ERT的有效性和安全性。3名儿科患者被排除在外。纳入87例患者。中位年龄44岁；51%为男性。基线时，10%的患者PR间期短，7%的患者左心室收缩功能下降，5%的患者超声心动图显示左心室质量升高（均在轻度范围内）。与ERT相关的心血管状况没有变化。没有发现与ERT相关的重大安全问题。虽然一些迟发性Pompe病患者在基线心电图或超声心动图上有异常，但在婴儿Pompe病中常见的异常，如显著的心室肥厚，未被注意到。心血管参数没有受到ERT的影响，也没有心血管安全问题。所发现的心血管异常可能与庞贝病或其他合并症有关。
We evaluated the prevalence of cardiovascular abnormalities and the efficacy and safety of enzyme replacement therapy (ERT) in patients with late onset Pompe disease. Ninety patients were randomized 2:1 to ERT or placebo in a double-blind protocol. Electrocardiograms (ECG) and echocardiograms were obtained at baseline and scheduled intervals over the 78-week study period. Baseline cardiovascular abnormalities, and efficacy and safety of ERT were described. Three pediatric patients were excluded. Eighty-seven patients were included. Median age was 44 years; 51% were male. At baseline, a short PR interval was present in 10%, 7% had decreased left ventricular systolic function, and 5% had elevated left ventricular mass on echocardiogram (all in mild range). There was no change in cardiovascular status associated with ERT. No significant safety concerns related to ERT were identified. Although some patients with late onset Pompe disease had abnormalities on baseline ECG or echocardiogram, those classically seen in infantile Pompe disease, such as significant ventricular hypertrophy, were not noted. Cardiovascular parameters were not impacted by ERT and there were no cardiovascular safety concerns. The cardiovascular abnormalities identified may be related to Pompe disease or other comorbid conditions.