Case Report: Fabry disease mimicking coronary artery disease and hypertrophic cardiomyopathy-a 15-year diagnostic...

Fabry disease is a rare X-linked hereditary lysosomal storage disorder. Its cardiac manifestations often overlap with those of hypertrophic cardiomyopathy or coronary artery disease, leading to significant delays in diagnosis.

A 60-year-old male patient presented with exertional angina pectoris, which had persisted for 15 years. Initially diagnosed with coronary artery disease, he underwent percutaneous coronary intervention. Despite successful revascularization, he subsequently developed progressive left ventricular hypertrophy, heart failure, bilateral hearing loss, dizziness, and white matter lesions in the brain. Cardiac magnetic resonance imaging revealed mid-myocardial striae-like late gadolinium enhancement and left ventricular high voltage on electrocardiography, raising a strong suspicion of Fabry disease. Plasma α-galactosidase A activity was significantly decreased (0.62 μmol/L), and genetic testing identified a hemizygous pathogenic variant in the GLA gene [c.718_719del (p.K240fs)], confirming the diagnosis of Fabry disease. Due to various reasons, enzyme replacement therapy was not initiated, and the patient is currently managed with a heart failure and secondary prevention regimen for coronary artery disease, with stable disease status.

This case highlights the challenges in identifying Fabry disease in patients with coexisting coronary artery disease and left ventricular hypertrophy. It emphasizes the diagnostic value of multi-system involvement and characteristic imaging findings. A diagnostic pathway incorporating clinical warning signs, cardiac magnetic resonance imaging, enzymatic assays, and genetic testing can help reduce diagnostic delays.