CTICasesFabry Disease (Restrictive Cardiomyopathy)
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Imaging findings
Cardiac MRI demonstrates left ventricular dilatation, a normal myocardial nulling pattern on the TI scout, and pronounced, nodular mid-myocardial and subepicardial late gadolinium enhancement involving the inferolateral wall.
Key takeaways
Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency, which leads to intracellular accumulation of globotriaosylceramide. Cardiac involvement commonly manifests as hypertrophic or restrictive cardiomyopathy with a characteristic pattern of mid-myocardial late gadolinium enhancement in the basal inferolateral wall, often showing low native T1 values on mapping due to myocardial lipid deposition.
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