Introduction Fabry disease is a metabolic disorder that can affect multiple organ systems, with the heart being one of the most commonly affected organs, particularly in late-onset cases. The prevalence of Fabry disease may be as high as 10% in patients with unexplained myocardial hypertrophy. Diagnosis relies on specific screening tests and genetic testing; however, misdiagnosis rates are high, leading to many patients being identified only after significant cardiac impairment has occurred.
