Résumé :
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Pompe disease is an autosomal recessive disorder caused by deficiency of a-glucosidase and lysosomal accumulation of glycogen in muscle and other tissues. Cardiomyopathy was very frequent in the childhood form of this disease, before the introduction of enzyme replacement therapy, and was often associated to abnormal ECG reflecting biventricular hypertrophy. In the adult form, cardiac involvement is very rare. Here we describe three patients suffering from adult onset Pompe disease who developed atrio-ventricular block needing the implantation of a pacemaker. The first patient was diagnosed of Pompe at age 30 and presented with lower legs weakness and respiratory involvement. At age 37, electrocardiogram showed second-degree atrioventricular block. One year later, he developed a third-degree block with a ventricular frequency of 42 bpm needing the implantation of a pacemaker. He died at age 42 in a car accident. The second patient was a 41 year-old male displaying since age 30 involvement of lower legs and respiratory muscles. At age 35, ECG revealed sinus tachycardia, without evidence of conduction block. Holter ECG revealed a third-degree block with pauses up to 5800 ms and a pacemaker was implanted. The last patient was diagnosed with Pompe disease at age 45 because of lower limb muscle involvement. At age 55 he developed respiratory involvement and enzyme replacement therapy was introduced. At age 57 ECG revealed a second-degree atrioventricular block. A Holter ECG performed few months later revealed a third-degree atrioventricular block with pauses up to 5500ms requiring pacemaker implantation. Interestingly, all these patients showed normal echocardiography and no risk factors for cardiovascular diseases. In conclusion, even thought cardiac involvement is very rare in adult onset Pompe disease and the pathologic relationship between the biochemical defect and atrio-ventricular block is still unknown, a complete cardiac followup must be performed regularly.
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