CTICasesFabry Disease Cardiomyopathy
Imaging findings
Cardiac MRI in a woman in her mid-50s shows concentric left ventricular hypertrophy, stable over years, with systolic anterior motion of the mitral chordae and mild left ventricular outflow tract narrowing. Late gadolinium enhancement is present in the basal lateral wall in a mid-myocardial distribution, and T1 mapping shows low native T1 values in the myocardium.
Key takeaways
Fabry disease, an X-linked lysosomal glycolipid storage disorder, can closely mimic hypertrophic cardiomyopathy on imaging, including concentric hypertrophy and systolic anterior motion, and accounts for a small proportion of cases labeled hypertrophic cardiomyopathy. Basal lateral wall mid-myocardial late gadolinium enhancement is characteristic, and low native T1 values from myocardial glycolipid deposition are the most sensitive and specific MRI feature. Recognition matters because enzyme replacement therapy is available.
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