Early Cardiac Fabry Disease Detected by Routine Cardiac MRI in a Young Athlete

Abstract

Aims: To describe how routine cardiovascular screening in an elite football player revealed subtle echocardiographic findings that prompted evaluation for an underlying cardiomyopathy, ultimately leading to the identification of early cardiac involvement in Fabry disease through cardiac magnetic resonance (CMR). Presentation of Case: A young elite male athlete underwent routine cardiovascular assessment. Clinical examination and ECG were normal. Transthoracic echocardiography (TTE) showed preserved systolic function with a discretely increased inferolateral wall thickness, a finding that can fall within athletic remodeling but must also prompt exclusion of early pathological hypertrophy due to its prognostic and career implications. CMR revealed that native T1 values were markedly reduced in the basal lateral wall, and two small mid-inferolateral intramyocardial nodules were detected on late gadolinium enhancement (LGE). Although Fabry disease was not initially suspected, this radiologic profile strongly suggested early involvement. Genetic testing was not yet available, but α-galactosidase A activity testing and additional laboratory evaluation were initiated. Discussion: Fabry disease can present with subtle, early myocardial changes that may be difficult to distinguish from physiological athlete’s remodeling. Reduced native T1 and focal mid-wall LGE constitute sensitive early markers of sphingolipid accumulation. Recognizing these patterns is crucial to differentiate emerging infiltrative cardiomyopathy from benign hypertrophy in competitive athletes. Conclusion: This case highlights the value of advanced CMR in evaluating borderline hypertrophy in athletes. Early identification of suspected Fabry cardiac involvement enables timely diagnostic clarification, potential consideration of targeted therapy, and informed guidance regarding ongoing sports participation.