European Journal of Therapeutics
Case Report

Infantile pompe disease presenting itself with severe hypertrophic cardiomyopathy: three case reports


Gaziantep Üniversitesi Tıp Fakültesi, Çocuk Kardiyoloji Bilim Dalı, Gaziantep


Diyarbakır Çocuk Hastalıkları Hastanesi, Diyarbakır


Gaziantep Üniversitesi Tıp Fakültesi, Çocuk Endokrinolojisi Bilim Dalı, Gaziantep

Eur J Ther 2013; 19: 131-134
DOI: 10.5455/GMJ-30-2013-132
Read: 280 Downloads: 136 Published: 03 September 2019


Infantile Pompe disease (glycogen storage disease type II) is a fatal disease that results from α glycosidase enzyme deficiency. Excessive undegradable intracellular glycogen deposition plays a role in the pathogenesis of the disease. Although excessive glycogen deposition involves many cells, clinical signs are limited mainly to the skeletal and cardiac muscle involvement. Therefore, it is a progressive disease that can cause death in early childhood due to extensive cardiomyopathy and weakness of respiratory muscles. We as well, aimed to present three cases, which had short P-R interval, large QRS complex and the signs of biventricular hypertrophy on ECG and prominent hypertrophic cardiomyopathy on transthoracic echocardiography in addition to respiratory muscle involvement.  

ISSN2564-7784 EISSN 2564-7040