CARDIOVASCULAR INVOLVEMENT IN POMPE DISEASE

Abstract

Lysosomal storage diseases are a diverse group of monogenic disorders which are as defined by defects in lysosomal function. The heart is part of the clinical phenotype of lysosomal storage diseases. Pompe disease is marked by absence/deficiency of the lysosomal enzyme alpha-glucosidase and by different ages of onset. The infantile form is defined by muscle weakness and progressive cardiac hypertrophy, followed by progressive cardiac failure. Pompe disease requires immediate intervention to maximize the potential benefit from enzymatic therapy, with improvement of the phenotype. This article presents clinical and cardiac findings suggestive for Pompe’s disease.

Keywords

• lysosomal diseases
• pompe disease
• cardiomyopathy