From Shoulder to Heart: Acute Shoulder Pain Leads to a Diagnosis of Fabry Disease.

backgroundFabry disease (FD) is an X-linked lysosomal storage disorder caused by a mutation in the GLA gene. The classic phenotype primarily affects male children with progressive multiorgan complications, while the atypical phenotype presents with predominant cardiac and renal manifestations in midlife. CASE SUMMARY: A 49-year-old man presented with acute left shoulder pain and abnormal electrocardiographic findings. Subsequent evaluation revealed persistent mild troponin elevation, left ventricular hypertrophy, and reduced native T1-relaxation time on cardiac magnetic resonance imaging. Severely reduced serum α-galactosidase level confirmed FD. Migalastat therapy was initiated, with no disease progression at most recent follow-up. DISCUSSION: Identification of late-onset FD requires a high index of suspicion, multimodal cardiac imaging, and genetic testing. Management requires a multidisciplinary approach to monitor and prevent disease progression. TAKE-HOME MESSAGES: Unexplained chronic troponin elevation and left ventricular hypertrophy merit further evaluation, even if the abnormality is mild. Diagnostic work-up for FD involves cardiac magnetic resonance imaging, serum α-galactosidase level, and genetic testing.