Cook Amanda L, Kishnani Priya S, Carboni Michael P, Kanter Ronald J, Chen Y T, Ansong Annette K, Kravitz Richard M, Rice Henry, Li Jennifer S
Division of Pediatric Cardiology, Duke University Medical Center, Durham, North Carolina 27710, USA.
Genet Med. 2006 May;8(5):313-7. doi: 10.1097/01.gim.0000217786.79173.a8.
Infantile Pompe disease is caused by deficiency of lysosomal acid alpha-glucosidase. Trials with recombinant human acid alpha-glucosidase enzyme replacement therapy (ERT) show a decrease in left ventricular mass and improved function. We evaluated 24-hour ambulatory electrocardiograms (ECGs) at baseline and during ERT in patients with infantile Pompe disease.
Thirty-two ambulatory ECGs were evaluated for 12 patients with infantile Pompe disease from 2003 to 2005. Patients had a median age of 7.4 months (2.9-37.8 months) at initiation of ERT. Ambulatory ECGs were obtained at determined intervals and analyzed.
Significant ectopy was present in 2 of 12 patients. Patient 1 had 211 and 229 premature ventricular contractions (0.2% of heart beats) at baseline and at 11.5 weeks of ERT, respectively. Patient 2 had 10,445 premature ventricular contractions (6.7% of heart beats) at 11 weeks of therapy.
Infantile Pompe disease may have preexisting ectopy; it may also develop during the course of ERT. Therefore, routinely monitoring patients using 24-hour ambulatory ECGs is useful. Periods of highest risk may be early in the course of ERT when there is a substantial decrease in left ventricular mass and an initial decrease in ejection fraction.
婴儿型庞贝病由溶酶体酸性α-葡萄糖苷酶缺乏引起。重组人酸性α-葡萄糖苷酶酶替代疗法（ERT）试验显示左心室质量减轻且功能改善。我们评估了婴儿型庞贝病患者在基线期和ERT期间的24小时动态心电图（ECG）。
对2003年至2005年12例婴儿型庞贝病患者的32份动态心电图进行了评估。患者开始ERT时的中位年龄为7.4个月（2.9 - 37.8个月）。按确定的间隔获取动态心电图并进行分析。
12例患者中有2例存在明显的心律失常。患者1在基线期和ERT治疗11.5周时分别有211次和229次室性早搏（占心跳的0.2%）。患者2在治疗11周时有10445次室性早搏（占心跳的6.7%）。
婴儿型庞贝病可能预先存在心律失常，也可能在ERT过程中发生。因此，使用24小时动态心电图对患者进行常规监测是有用的。风险最高的时期可能是在ERT过程早期，此时左心室质量大幅下降且射血分数初步降低。
