Infantile Pompe Disease Presenting with Severe Hypertrophic Cardiomyopathy: A Case Report
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Case Report
P: 266-268
September 2015

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

Med Bull Haseki 2015;53(3):266-268
1. Haseki Eğitim ve Araştırma Hastanesi, Çocuk Sağlığı ve Hastalıkları Kliniği, İstanbul, Türkiye
2. Bezmialem Vakıf Üniversitesi Tıp Fakültesi, Neonatoloji Bilim Dalı, İstanbul, Türkiye
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No information available
Received Date: 13.01.2015
Accepted Date: 15.02.2015
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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.