BACKGROUND Fabry disease in women may progress silently, and normal baseline cardiac magnetic resonance (CMR) does not exclude subsequent cardiac involvement. CASE SUMMARY A 39-year-old woman with genetically confirmed Fabry disease and no prior disease-specific therapy had normal biomarkers, renal function, echocardiography, and CMR in 2022. In 2025, she developed acroparesthesias, reduced sweating, tinnitus, and constipation. Echocardiography showed increased left ventricular wall thickness. Follow-up CMR demonstrated preserved left ventricular ejection fraction, basal septal thickening to 14 mm, low native T1 (874 ms), extracellular volume of 26.9%, and new midwall late gadolinium enhancement. Enzyme replacement therapy was initiated. DISCUSSION Women with Fabry disease may develop structural cardiac involvement despite preserved systolic function and normal cardiac biomarkers, supporting individualized serial multimodality surveillance. TAKE-HOME MESSAGE Preserved left ventricular ejection fraction and normal cardiac biomarkers do not exclude Fabry cardiomyopathy; interval echocardiographic changes or symptoms should prompt repeat CMR and reassessment for disease-specific therapy.
