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Fabry Low T1 on CMR — EECC MCQ

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ModerateCardiac ImagingFabry Low T1 on CMREECC

A 68-year-old woman with unexplained LVH (septal thickness 16 mm) has a resting ECG showing short PR interval (110 ms) and LVH voltage criteria. Echocardiography shows concentric LVH with a ground-glass sparkling appearance. Native T1 on CMR is LOW (880 ms at 1.5T). What diagnosis should be considered?

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Correct answer: B — Fabry disease — characteristically shows LOW native T1 values on CMR (due to intracellular lipid accumulation), unlike all other causes of LVH which elevate T1; short PR interval is another classic feature

Fabry disease (alpha-galactosidase A deficiency) is a crucial differential in unexplained LVH because it is treatable with disease-specific therapy (ERT or migalastat). CMR with T1 mapping is the key differentiator: (1) Fabry = LOW native T1 (due to intracellular sphingolipid [Gb3] accumulation — lipid shortens T1); (2) All other causes of LVH (amyloidosis, HCM, hypertensive, AS) = elevated native T1. Additional Fabry clues: short PR interval (Gb3 accelerates AV conduction), cornea verticillata, acroparaesthesia, angiokeratomas, proteinuria, stroke in young adults, posterolateral mid-wall LGE on CMR. The 2023 ESC Cardiomyopathy Guidelines recommend considering Fabry in all patients with unexplained LVH, particularly when T1 is low on CMR.

Reference: ESC (2023): Cardiomyopathies Guidelines