Department of Pediatrics, Duke University Medical Center, Durham, NC 27715, USA.
Genet Med. 2011 Jul;13(7):625-31. doi: 10.1097/GIM.0b013e3182142966.
We evaluated the prevalence of cardiovascular abnormalities and the efficacy and safety of enzyme replacement therapy in patients with late-onset Pompe disease.
Ninety patients were randomized 2:1 to enzyme replacement therapy or placebo in a double-blinded protocol. Electrocardiograms and echocardiograms were obtained at baseline and scheduled intervals during the 78-week study period. Baseline cardiovascular abnormalities, and efficacy and safety of enzyme replacement therapy were described. Three pediatric patients were excluded.
Eighty-seven patients were included. Median age was 44 years; 51% were men. 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 enzyme replacement therapy. No significant safety concerns related to enzyme replacement therapy were identified.
Although some patients with late-onset Pompe disease had abnormalities on baseline electrocardiogram or echocardiogram, those classically seen in infantile Pompe disease, such as significant ventricular hypertrophy, were not noted. Cardiovascular parameters were not impacted by enzyme replacement therapy, and there were no cardiovascular safety concerns. The cardiovascular abnormalities identified may be related to Pompe disease or other comorbid conditions.
我们评估了迟发性庞贝病患者心血管异常的发生率，以及酶替代疗法的疗效和安全性。
90 名患者按 2:1 的比例随机分配至酶替代疗法组或安慰剂组，进行双盲试验。在 78 周的研究期间，定期进行心电图和超声心动图检查。描述了基线时的心血管异常，以及酶替代疗法的疗效和安全性。3 名儿科患者被排除在外。
87 名患者被纳入研究。中位年龄为 44 岁，51%为男性。基线时，10%的患者 PR 间期缩短，7%的患者左心室收缩功能降低，5%的患者左心室质量升高（均处于轻度范围）。酶替代疗法与心血管状态的变化无关。未发现与酶替代疗法相关的严重安全性问题。
尽管一些迟发性庞贝病患者的心电图或超声心动图存在异常，但未发现婴儿型庞贝病中常见的显著心室肥厚等异常。心血管参数未受酶替代疗法的影响，且无心血管安全性问题。所识别的心血管异常可能与庞贝病或其他合并症有关。
