title: Cardiac involvement in adults with Pompe disease.
abstract: BACKGROUND
  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.
  
  
  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.
authors.affiliation: Department of Cardiology, Thoraxcenter, Erasmus University Medical Center, Rotterdam, The Netherlands.
authors.forename: O I I
authors.initials: OI
authors.lastname: Soliman
authors.forename: N A M E
authors.initials: NA
authors.lastname: van der Beek
authors.forename: P A
authors.initials: PA
authors.lastname: van Doorn
authors.forename: W B
authors.initials: WB
authors.lastname: Vletter
authors.forename: A
authors.initials: A
authors.lastname: Nemes
authors.forename: B M
authors.initials: BM
authors.lastname: Van Dalen
authors.forename: F J
authors.initials: FJ
authors.lastname: ten Cate
authors.forename: A T
authors.initials: AT
authors.lastname: van der Ploeg
authors.forename: M L
authors.initials: ML
authors.lastname: Geleijnse
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D004280:Dobutamine; D004452:Echocardiography; D018619:Echocardiography, Doppler, Pulsed; D017079:Exercise Tolerance; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000000981:diagnostic imaging; D006331:Heart Diseases / Q000150:complications* / Q000000981:diagnostic imaging; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000150:complications / Q000000981:diagnostic imaging; D008297:Male; D008875:Middle Aged; D011446:Prospective Studies
chemical_list: D004280:Dobutamine