Multimodality Imaging of a Woman With Hypertrophic Cardiomyopathy and Fabry Disease

2025/11/01 by Shing Ching, Karl Chan

paper · doi:10.1111/echo.70332

Abstract

ABSTRACT A woman in her 50s with known MYBPC3‐associated obstructive hypertrophic cardiomyopathy was evaluated for septal reduction therapy. The electrocardiogram, echocardiogram, and cardiac magnetic resonance found several features inconsistent with the diagnosis. Targeted screening confirmed adult‐onset Fabry disease. Enzyme replacement therapy was started.

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