RETRACTED: Fabry Disease Presenting as End-Stage Hypertrophic Cardiomyopathy: Diagnostic Pitfalls and Lessons Learned

Area of Science:

• Cardiology
• Genetics
• Metabolic Disorders

Background:

• Fabry disease (FD) can present as isolated cardiac hypertrophy, mimicking hypertrophic cardiomyopathy (HCM).
• This presentation can delay the diagnosis of FD, a treatable lysosomal storage disorder.

Purpose of the Study:

• To highlight the diagnostic challenges in differentiating cardiac Fabry disease from hypertrophic cardiomyopathy.
• To emphasize the importance of integrated diagnostic approaches for rare genetic disorders.

Main Methods:

• Case report of a 64-year-old man with heart failure due to presumed HCM.
• Analysis included echocardiography, explanted heart pathology, α-galactosidase A enzyme assay, and genetic testing.

Main Results:

• Pathology revealed myocyte vacuolization, leading to investigation for lysosomal storage disorders.
• Enzyme assay showed reduced α-galactosidase A activity, and genetic testing identified a pathogenic variant (p.Asn215Ser).

Conclusions:

• Advanced Fabry disease can mimic HCM, especially in late-onset forms without typical extracardiac signs.
• Accurate diagnosis requires integrating histopathology, enzymatic testing, and genetic analysis for targeted therapy.
• Histologic findings suggestive of metabolic disorders warrant further investigation, even after cardiac transplantation.