Key result
An 80-year-old man with unexplained left ventricular hypertrophy was diagnosed with late-onset Fabry disease due to a hemizygous c.640-801 G->A mutation despite pseudo-normalized T1 mapping.
Case Report (n=1)
This case highlights the diagnostic pitfalls of interpreting CMR parametric mapping due to pseudo-normalization of T1 from competing intracellular lipid accumulation and fibrosis, and the limitations of standard genetic panels in diagnosing late-onset Fabry disease.
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Ching et al. (2026) conducted a case report in Left ventricular hypertrophy / Fabry disease (n=1). GLA gene c.640-801 G->A mutation was evaluated. An 80-year-old man with unexplained left ventricular hypertrophy was diagnosed with late-onset Fabry disease due to a hemizygous c.640-801 G->A mutation despite pseudo-normalized T1 mapping.
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