Fabry's Disease, Valvular Disease and Infective Endocarditis: A Rare Intersection

Infective endocarditis may present with nonspecific systemic symptoms that mimic other conditions, creating diagnostic challenges in high-risk patients.

A 44-year-old man with advanced Fabry disease, bioprosthetic aortic valve replacement, and a chronic Port-A-Cath presented with fever, chills, and malaise shortly after pegunigalsidase alfa infusion, initially raising concern for an infusion reaction. Persistent methicillin-sensitive Staphylococcus aureus bacteremia prompted further evaluation, revealing right-sided native tricuspid valve infective endocarditis with septal leaflet perforation and severe tricuspid regurgitation. Prosthetic aortic valve involvement remained clinically suspected despite nondiagnostic imaging. Brain magnetic resonance imaging demonstrated multifocal septic embolic infarctions. He received targeted intravenous antibiotics, catheter removal, multidisciplinary care, and cardiothoracic surgical evaluation, with continued medical management recommended.

This case emphasizes maintaining suspicion for infective endocarditis despite a plausible alternative diagnosis and highlights the role of multimodality imaging in guiding management.

Persistent S aureus bacteremia should prompt evaluation for infective endocarditis in high-risk patients even when symptoms initially suggest a plausible alternative diagnosis. Multimodality imaging and multidisciplinary assessment are essential when initial imaging is nondiagnostic or clinical findings suggest embolic complications.