Person:
BAYRAKTAR, BILGE

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BILGE
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BAYRAKTAR
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PublicationOpen Access

Infantile Pompe Disease Presenting with Severe Hypertrophic Cardiomyopathy: A Case Report

2015-09-01T00:00:00Z, Bayraktar, Suleyman, BAYRAKTAR, Bilge, Elevli, Murat, BAYRAKTAR, BILGE

Infantile Pompe disease (glycogen storage disease type 2) is a fatal disease with autosomal recessive inheritance, leading to hypertrophic cardiomyopathy, hypotonia and respiratory failure. It is a progressive condition due to accumulation of glycogen in the muscles. We aimed to present a case of infantile Pompe disease in a patient who had giant QRS complexes in electrocardiographic monitoring and hypertrophic cardiomyopathy involving the interventricular septum and the left ventricle on echocardiography.