Atrio-ventricular block requiring pacemaker in patients with late onset Pompe disease.
Enzyme replacement therapy consistently improves cardiac function in infantile and juvenile onset patients with Pompe disease and cardiomyopathy, but is apparently not effective in preventing rhythm disorders, an emerging cardiac phenotype in long term survivors. In patients with late onset Pompe disease cardiomyopathy is an exceptional finding while heart rhythm disorders seem to be more frequent. We retrospectively identified, among a cohort of 131 French late onset Pompe disease patients, four patients with severe atrio-ventricular blocks requiring pacemaker implantation. These patients had no other risk factors for cardiovascular diseases or cardiomyopathy. In one patient the atrioventricular block was discovered while still asymptomatic. Cardiac conduction defects are relatively rare in late onset Pompe disease and may occur even in absence of cardiac symptoms or EKG abnormalities. However because of the possible life-threatening complications associated with these conduction defects, cardiac follow-up in patients with late onset Pompe disease should include periodical Holter-EKG monitoring.
Neuromuscular Diseases Specialized Center, Archet 1 Hospital, CHU Nice, France. Electronic address: sacconi@unice.fr.
Sabrina
S
Sacconi
Cardiology Department, Cochin Hospital, APHP, Paris, France; Neuromuscular Diseases Specialized Center Paris Est, Groupe Hospitalier Pitié-Salpêtrière, APHP, Paris, France.
Karim
K
Wahbi
Cardiology Department, Pasteur Hospital, CHU Nice, France.
Guillaume
G
Theodore
Neuromuscular Diseases Specialized Center, Archet 1 Hospital, CHU Nice, France.
Jérémy
J
Garcia
Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy; IRP città della Speranza, Padova, Italy.
Leonardo
L
Salviati
Electromyography and Neuromuscular Pathologies Department Lyon Est, Bron Hospitals, France.
Françoise
F
Bouhour
Electromyography and Neuromuscular Pathologies Department Lyon Est, Bron Hospitals, France.
Christophe
C
Vial
Cardiology Department, Cochin Hospital, APHP, Paris, France.
Denis
D
Duboc
Neuromuscular Diseases Specialized Center Paris Est, Groupe Hospitalier Pitié-Salpêtrière, APHP, Paris, France.
Pascal
P
Laforêt
Neuromuscular Diseases Specialized Center, Archet 1 Hospital, CHU Nice, France.
Claude
C
Desnuelle
D000328:Adult; D017668:Age of Onset; D054537:Atrioventricular Block / Q000503:physiopathology* / Q000628:therapy*; D004452:Echocardiography; D017809:Fatal Outcome; D005260:Female; D005602:France; D006009:Glycogen Storage Disease Type II / Q000503:physiopathology* / Q000628:therapy*; D006321:Heart / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D010138:Pacemaker, Artificial; D012189:Retrospective Studies
Atrioventricular block; Cardiomyopathy; Holter-EKG; Late-onset Pompe disease; Pacemaker; Pompe disease