Cardiac involvement in adults with Pompe disease
Article first published online: 4 APR 2008
© 2008 Blackwell Publishing Ltd
Journal of Internal Medicine
Volume 264, Issue 4, pages 333–339, October 2008
How to Cite
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. and Geleijnse, M. L. (2008), Cardiac involvement in adults with Pompe disease. Journal of Internal Medicine, 264: 333–339. doi: 10.1111/j.1365-2796.2008.01966.x
- Issue published online: 10 SEP 2008
- Article first published online: 4 APR 2008
- glycogen storage disease
Background. Glycogen storage disease type II or Pompe disease is a neuromuscular disorder caused by deficiency of lysosomal acid α- 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.
Methods. 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.
Results. 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.
Conclusions. 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.