Key result
Fabry disease linked to ~23% lower peak oxygen uptake even in early cardiomyopathy phases.
Why the study?
Exercise intolerance is prevalent in Fabry disease, but the mechanisms and its correlation with cardiomyopathy phase are poorly understood.
Observational (n=42)
No
Absolute Event Rate: 28.7% vs 37.3%
p-value: p=0.006
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Adults with Fabry disease exhibit significantly impaired aerobic capacity even without phenotypic cardiomyopathy, which progressively worsens with cardiomyopathy severity.
Roy et al. (2024) conducted an observational in Fabry disease (n=42). Cardiomyopathy phase vs. Age- and sex-normalised expected values was evaluated on peak oxygen uptake (V̇O2peak) (p=0.006). Fabry disease was associated with significantly impaired peak oxygen uptake even in phase I (28.7 vs expected 37.3 mL/kg/min, p=0.006), which further declined across cardiomyopathy phases (p=0.010).
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