CTICasesFabry Disease
Imaging findings
Cardiac MRI demonstrates symmetric left ventricular hypertrophy with normal systolic function. Late gadolinium enhancement (LGE) shows a characteristic focal area of mid-myocardial enhancement in the basal-to-mid inferolateral wall. Non-contrast T1 mapping at 3T shows abnormally rapid relaxation times (low native T1 values <1000 ms).
Key takeaways
Fabry disease (Anderson-Fabry disease) is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency, leading to glycosphingolipid accumulation. In the heart, it causes left ventricular hypertrophy. Native T1 mapping on MRI is highly specific, showing low values due to lipid deposition (unlike other causes of hypertrophy like amyloidosis or hypertension, which raise T1). Mid-myocardial LGE in the inferolateral wall represents myocardial scarring.
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