Case Report

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


  • Süleyman Bayraktar
  • Bilge Tanyeri Bayraktar
  • Murat Elevli

Received Date: 13.01.2015 Accepted Date: 15.02.2015 Med Bull Haseki 2015;53(3):266-268

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

Full Text (Turkish)