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