Soliman O I I, van der Beek N A M E, van Doorn P A, Vletter W B, Nemes A, Van Dalen B M, ten Cate F J, van der Ploeg A T, Geleijnse M L
Department of Cardiology, Thoraxcenter, Erasmus University Medical Center, Rotterdam, The Netherlands.
J Intern Med. 2008 Oct;264(4):333-9. doi: 10.1111/j.1365-2796.2008.01966.x. Epub 2008 Apr 4.
Glycogen storage disease type II or Pompe disease is a neuromuscular disorder caused by deficiency of lysosomal acid alpha- glucosidase. Classic infantile Pompe disease results in massive left ventricular (LV) hypertrophy and failure. Although Pompe disease is often included in the differential diagnosis of LV hypertrophy the true frequency of cardiac involvement in adults with Pompe disease is not known.
Forty-six consecutive adult patients (mean age 48 +/- 12, 22 men) with Pompe disease were included. Each patient underwent a clinical examination, electrocardiography, and rest and low-dose dobutamine (in 20 patients) two-dimensional echocardiography including contrast and tissue Doppler imaging.
All patients had limited exercise tolerance; a rollator walking aid was used in seven patients (15%), a wheelchair in 13 patients (28%), and assisted ventilation in 14 patients (30%). Prior to this study, one patient was known with permanent atrial fibrillation, His-bundle ablation and a VVI pacemaker and another patient was known with fluid retention. The first patient had increased LV end-diastolic diameter, impaired LV ejection fraction, low systolic mitral annular velocities and diastolic dysfunction grade II. The patient with fluid retention was wheelchair bound and dependent on 24-h assisted ventilation and showed right ventricular and LV hypertrophy (septum 16 mm, posterior wall 15 mm). LV hypertrophy was not seen in any of the other patients. One woman of advanced age had isolated low systolic mitral annular velocities. Mean global systolic LV function, including contractile reserve, was not decreased in patients with Pompe disease. Eight patients (17%) had mild diastolic dysfunction grade I, related to hypertension in four and advanced age in seven.
In adult patients with Pompe disease without objective signs of cardiac affection by 12-leads electrocardiography or physical examination, echocardiographic screening for LV hypertrophy seems not effective.
糖原贮积病II型或庞贝病是一种由溶酶体酸性α-葡萄糖苷酶缺乏引起的神经肌肉疾病。典型的婴儿型庞贝病会导致大量左心室（LV）肥厚和衰竭。尽管庞贝病常被纳入左心室肥厚的鉴别诊断中，但成人庞贝病心脏受累的实际发生率尚不清楚。
纳入46例连续的成年庞贝病患者（平均年龄48±12岁，男性22例）。每位患者均接受临床检查、心电图检查，以及静息和低剂量多巴酚丁胺（20例患者）二维超声心动图检查，包括造影和组织多普勒成像。
所有患者运动耐力均有限；7例患者（15%）使用助行器，13例患者（28%）使用轮椅，1例患者（30%）使用辅助通气。在本研究之前，已知1例患者患有永久性心房颤动、希氏束消融和VVI起搏器，另1例患者已知有液体潴留。首例患者左心室舒张末期直径增加、左心室射血分数受损、二尖瓣环收缩期速度降低和舒张功能障碍II级。有液体潴留的患者依赖轮椅且需要24小时辅助通气，表现为右心室和左心室肥厚（室间隔16mm，后壁15mm）。其他患者均未出现左心室肥厚。1例老年女性仅有二尖瓣环收缩期速度降低。庞贝病患者的平均左心室整体收缩功能，包括收缩储备，并未降低。8例患者（17%）有轻度舒张功能障碍I级，其中4例与高血压有关，7例与高龄有关。
对于12导联心电图或体格检查无心脏受累客观体征的成年庞贝病患者，超声心动图筛查左心室肥厚似乎无效。
