Cardiovascular disease in non-classic Pompe disease: a systematic review.


Pompe disease is an inherited metabolic and neuromuscular disorder. Mutations in the GAA gene lead to deficiency of the enzyme acid α-glucosidase, causing lysosomal glycogen accumulation. This ultimately leads to cell destruction, mainly causing progressive impairment of muscle function [1]. Patients with the classic infantile form of Pompe disease have (virtually) no acid a-glucosidase activity, causing generalized hypotonia, severe hypertrophic cardiomyopathy and respiratory failure. Without treatment, these infants die within the first year of life [2].


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