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Fabry Disease Cardiac Treatment — EECC MCQ

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ModerateCardiomyopathyFabry Disease Cardiac TreatmentEECC

A 45-year-old man with Fabry disease (confirmed alpha-galactosidase A deficiency) presents with LVH (septal thickness 18 mm), proteinuria, and acroparaesthesia. Cardiac MRI shows low native T1 values and late gadolinium enhancement in the basal inferolateral wall. What specific cardiac treatment should be initiated?

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Correct answer: B — Enzyme replacement therapy (ERT) with agalsidase alfa or beta, or oral chaperone therapy (migalastat) if an amenable mutation — initiated early before irreversible fibrosis develops

Fabry disease is an X-linked lysosomal storage disorder (GLA gene mutation) causing accumulation of globotriabinosylceramide (GL-3/Gb3) in multiple organs. Cardiac involvement causes LVH (phenocopy of HCM), conduction disease, arrhythmias, and HF. CMR characteristically shows low native T1 values (due to lipid storage — unlike other causes of LVH which elevate T1) and late LGE in the basal inferolateral segment. The 2023 ESC Cardiomyopathy Guidelines recommend early disease-specific therapy: (1) ERT (agalsidase alfa or beta) — IV infusions every 2 weeks; (2) oral chaperone (migalastat) — for patients with amenable GLA mutations. Early treatment before significant fibrosis (LGE) develops is crucial as fibrosis is irreversible. Once extensive fibrosis is present, treatment benefits are limited.

Reference: ESC (2023): Guidelines on Cardiomyopathies