Anderson–Fabry disease is a recognised genetic cause of restrictive cardiomyopathy. Identifying this phenocopy precisely is critical, because a specific targeted treatment is available that differs fundamentally from non-specific cardiomyopathy management.

This protocol applies to patients with restrictive cardiomyopathy in the context of Anderson–Fabry disease. Distinguishing this genetic phenocopy from other aetiologies of restrictive physiology is essential, as the underlying metabolic defect defines both prognosis and the therapeutic pathway.

Treatment approach

Management involves a targeted intervention directed at the underlying enzymatic defect responsible for this storage disorder. The complete structured regimen — including sequencing and monitoring considerations — is available in the full protocol.

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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Treatment of Restrictive Cardiomyopathy in Anderson–Fabry Disease

Treatment approach

References