Why Does Pompe Disease Cause Cardiomegaly?

Alexander Ross
Alexander Ross
• • 6 min read

In the Classic Infantile Form of Pompe Disease, Clinically Significant Glycogen Storage Glycogen Storage a Glycogen Storage Disease (Gsd, Also Glycogenosis and...

Why Does Pompe Disease Cause Cardiomegaly?

In the classic infantile form of Pompe disease, clinically significant glycogen storage

glycogen storage
A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by enzyme deficiencies affecting either glycogen synthesis, glycogen breakdown or glycolysis (glucose breakdown), typically in muscles and/or liver cells. GSD has two classes of cause: genetic and acquired.
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occurs in cardiac muscle. Over time, cardiomegaly with LV thickening occurs, eventually leading to outflow tract obstruction. Glycogen storage in skeletal muscle leads to hypotonia and weakness.

How does Pompe disease affect the heart?

The heart may be abnormally large (cardiomegaly), but affected individuals usually do not experience heart failure. The muscle weakness in this disorder leads to serious breathing problems, and most children with non-classic infantile-onset Pompe disease live only into early childhood.

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How does Pompe disease cause hypertrophic cardiomyopathy?

Pompe disease is a genetic disorder caused by a deficiency of acid α-glucosidase (GAA). Patients with classic infantile-onset Pompe disease usually present with hypertrophic cardiomyopathy and die before 1 year of age, if not treated with enzyme replacement therapy (ERT).

Alexander Ross

Alexander Ross

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Alexander Ross has covered the video game industry for a decade, writing deep dives on game design, esports tournaments, VR developments, and gaming culture.