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

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

Med Bull Haseki 2015;53(3):266-268 DOI: 10.4274/haseki.2405
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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.

Keywords: Pompe disease, hypertrophic cardiomyopathy, respiratory failure