Key result
Serial CMR detects new structural cardiac involvement at 3 years in female Fabry disease.
Why the study?
Fabry disease in women may progress silently, and a normal baseline CMR does not exclude subsequent cardiac involvement.
Case Report (n=1)
Women with Fabry disease can develop progressive structural cardiomyopathy over 3 years despite a normal baseline CMR, preserved left ventricular ejection fraction, and normal biomarkers, highlighting the need for serial multimodality imaging surveillance.
Silent progression may occur in Fabry disease; this case leaves open whether routine serial imaging improves outcomes.
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.
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Szczepara et al. (2026) conducted a case report in Fabry disease (n=1). Serial multimodality surveillance (echocardiography and cardiac magnetic resonance) was evaluated on Structural cardiac involvement on follow-up cardiac magnetic resonance. Repeat CMR in a 39-year-old woman with Fabry disease revealed basal septal thickening (14 mm), low native T1 (874 ms), ECV of 26.9%, and new midwall LGE despite normal baseline CMR 3 years prior.
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