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

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2015-09-01T00:00:00Z

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Bayraktar, Suleyman
BAYRAKTAR, Bilge
Elevli, Murat

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Abstract

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.

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Infantile Pompe Disease

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Bayraktar S., BAYRAKTAR B., Elevli M., -Infantile Pompe Disease Presenting with Severe Hypertrophic Cardiomyopathy: A Case Report-, HASEKI TIP BULTENI-MEDICAL BULLETIN OF HASEKI, cilt.53, ss.266-268, 2015
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