Pompe Disease: A Case with Cardiomyopathy and Hypotonia

Pompe disease also known as Glycogen Storage Disease type II, Acid Maltase Deficiency, and Glycogenosis type II is a rare autosomal recessive disease caused by the deficiency of acid -glucosidase (GAA) [1]. The absence, or almost complete absence, of GAA in Pompe disease leads to the accumulation of high levels of glycogen in various tissues, particularly cardiac and skeletal muscle, as well as respiratory muscles, leading to generalized myopathy, cardiomyopathy and respiratory failure. Through this article we aim to increase the awareness in the medical community as an early treatment of this disease could enhances quality and longevity of patients life. We will discuss the most severe form of the Pompe disease the classic infantile form, the cardiovascular involvement in Pompe disease and how important it is to test children with hypertrophic cardiomyopathy for this disease as well. Further we will present our own experience with a case with Cardiomyopathy and Hypotonic presented at University Medical Center of Tirana Mother Teresa.