SCD Risk in Fabry with LGE — EECC MCQ

Correct answer: D — ICD should be considered — LGE in Fabry indicates irreversible fibrosis which is an arrhythmogenic substrate; SCD risk assessment should follow HCM-like principles rather than standard DCM criteria, though Fabry-specific risk calculators are not yet established

Cardiac involvement in Fabry disease creates an arrhythmogenic substrate through: LVH (hypertrophied myocytes), fibrosis (particularly posterolateral mid-wall LGE — the hallmark CMR pattern), and conduction disease. Sustained VT in Fabry with LGE indicates significant arrhythmic risk. The 2023 ESC Cardiomyopathy Guidelines classify Fabry as a metabolic cause of the HCM phenotype and recommend: (1) ICD for secondary prevention (survivors of VT/VF — Class I); (2) ICD consideration for primary prevention based on LGE extent, LVEF, and arrhythmia burden (adapted from HCM risk stratification rather than strict LVEF <35% criterion, as SCD can occur at preserved LVEF); (3) continue ERT/migalastat (disease-specific treatment) but recognise that once significant LGE is present, the fibrotic substrate is irreversible.

Reference: ESC (2023): Cardiomyopathies Guidelines