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


Bayraktar S. , BAYRAKTAR B. , Elevli M.

HASEKI TIP BULTENI-MEDICAL BULLETIN OF HASEKI, cilt.53, sa.3, ss.266-268, 2015 (ESCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 53 Konu: 3
  • Basım Tarihi: 2015
  • Doi Numarası: 10.4274/haseki.2405
  • Dergi Adı: HASEKI TIP BULTENI-MEDICAL BULLETIN OF HASEKI
  • Sayfa Sayıları: ss.266-268

Özet

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.