Interv Akut Kardiol 2012; 11(5-6): 192-195

Pompe disease as seen by a pediatric cardiologist

Veronika Stará

Kardiologická ambulance, Pediatrická klinika FN Motol, Praha

Pompe disease is rare, autosomal recessive disorder, caused by deficiency of enzyme acid-alpha-glucosidase that plays important role

in glycogen metabolism. The lack of enzyme leads to abnormal glycogen storage in different tissues. Skeletal and cardiac muscles are

predominantly affected, though accumulation in liver and endothelial cells is also common.

The clinical presentation of disease varies by age – in infancy is characterized by severe generalized hypotonia, failure to thrive and hypertrophic

cardiomyopathy, in some cases accompanied with obstruction of left ventricular outflow tract or with different arrhythmias.

In childhood and adulthood dominates muscular weakness and respiratory problems, cardiac involvement is unusual. Prognosis of

infantile form is poor, patients usually die within two years of age. The cause of the death is uncontrollable cardiopulmonary failure. The

progression of the disease at late onset form is slower and cardiac involvement is unusual, but still the natural clinical course of disease

is unfavorable and tend to the respiratory failure and patient´s disability. This article points out to cardiovascular aspects of disease,

it´s clinical presentation, diagnosis, differential diagnosis and therapeutic options.

Keywords: Pompe disease, hypotonia, muscle weakness, hypertrophic cardiomyopathy, enzymatic substitution therapy

Published: December 1, 2012  Show citation