Related Experiment Video
Updated: Oct 26, 2026

Quantification of Mouse Heart Left Ventricular Function, Myocardial Strain, and Hemodynamic Forces by Cardiovascular Magnetic Resonance Imaging
Published on: May 24, 2021
Silent Cardiac Progression in a Woman With Fabry Disease Despite Normal Baseline CMR
Sylwia Szczepara1, Klaudia Pacia1, Joanna Szachowicz-Jaworska2
1Department of Cardiac and Vascular Diseases, St. John Paul II Hospital, Kraków, Poland; Department of Cardiac and Vascular Diseases, Jagiellonian University Medical College, Institute of Cardiology, St. John Paul II Hospital, Kraków, Poland.
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.
Related Concept Videos
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Mitral Stenosis II: Clinical features and Diagnostic Tests
Cardiomyopathy II: Dilated Cardiomyopathy
Cardiomyopathy IV: Restrictive Cardiomyopathy
Cardiomyopathy V: Interprofessional Care
Cardiomyopathy I: Introduction and Classification
