Purpose: We evaluated the prevalence of cardiovascular abnormalities and the efficacy and safety of enzyme replacement therapy in patients with late-onset Pompe disease. Methods: 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. Results: 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. Conclusions: 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.

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doi.org/10.1097/GIM.0b013e3182142966, hdl.handle.net/1765/31297
Genetics in Medicine
Erasmus MC: University Medical Center Rotterdam

Forsha, D., Li, J., Smith, B., van der Ploeg, A., Kishnani, P., & Pasquali, S. (2011). Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy. Genetics in Medicine, 13(7), 625–631. doi:10.1097/GIM.0b013e3182142966