Treatment of Restrictive Cardiomyopathy in Pompe Disease (Glycogenosis)

Restrictive cardiomyopathy presenting in the context of Pompe disease (glycogen storage disease type II, a form of glycogenosis) represents a distinct clinical scenario in which an accurate underlying diagnosis is critical to directing appropriate management.

Clinical scenario

This protocol applies to patients with restrictive cardiomyopathy in whom the underlying aetiology is glycogenosis — specifically Pompe disease. Recognising this genetic phenocopy of restrictive cardiomyopathy is essential, as it opens the door to a targeted therapeutic approach that addresses the root cause.

Treatment approach

Management centres on a targeted, disease-specific intervention aimed at the underlying metabolic defect — enzyme replacement is a key component of this approach.

The complete regimen, including sequencing and all relevant clinical considerations, is available in the full protocol.

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References

DOI: 10.1093/eurheartj/ehad194

Precise diagnosis is also essential for genetic phenocopies with available target treatments: ERT for Anderson–Fabry disease or glycogenosis such as Pompe disease; therapeutic phlebotomy for haemochromatosis; immunosuppressive therapeutics for sarcoidosis; new biological drugs for systemic diseases (e.g. autoimmune diseases with cardiac involvement that can reverse or stabilize by treating the disease itself); and removal of the toxic causes.

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