Key result
Screening adult HCM patients identifies ~1% prevalence of genetically confirmed Fabry disease.
Why the study?
Fabry disease can present as a later-onset variant with predominant cardiac involvement that often mimics hypertrophic cardiomyopathy.
What is the prevalence of Fabry disease in an unselected population of adult patients with hypertrophic cardiomyopathy?
Population
589 consecutive unrelated patients with HCM across 16 cardiac centres in the Czech Republic
Design
Multicentre nationwide cross-sectional screening study
Authors
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May support Fabry screening in adult HCM; leaves open prospective outcome validation.
Observational (n=589)
Yes
What is the prevalence of Fabry disease in an unselected population of adult patients with hypertrophic cardiomyopathy?
Routine screening for Fabry disease in adult patients with hypertrophic cardiomyopathy identified a prevalence of approximately 1%, supporting systematic screening in this population.
Zemánek et al. (2022) conducted an observational in Hypertrophic cardiomyopathy (n=589). Screening for Fabry disease (AGALA activity and lyso-Gb3) was evaluated on Prevalence of genetically confirmed Fabry disease. Nationwide screening of 589 adult patients with hypertrophic cardiomyopathy in the Czech Republic identified a 1.02% prevalence of genetically confirmed Fabry disease.
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