Person: BAYRAKTAR, BILGE
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- PublicationOpen AccessInfantile Pompe Disease Presenting with Severe Hypertrophic Cardiomyopathy: A Case Report(2015-09-01T00:00:00Z) Bayraktar, Suleyman; BAYRAKTAR, Bilge; Elevli, Murat; BAYRAKTAR, BILGEInfantile 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.