Myosin inhibitor therapy in Fabry cardiomyopathy with dynamic left ventricular outflow obstruction

A 56-year-old woman with presumed hypertrophic cardiomyopathy was diagnosed with Fabry disease (GLA: p.Glu358del ) and a concomitant PLN variant. Imaging revealed advanced Fabry cardiomyopathy with dynamic LVOT obstruction. Despite optimized medical and enzyme replacement therapy, symptoms progressed (NYHA-class III) with a marked increase in LVOT gradient. Mavacamten was initiated and uptitrated under echocardiographic monitoring. At three months, LVOT gradient significantly decreased and functional status improved (NYHA-class I), while systolic function remained preserved. This case highlights the importance of detailed phenotyping and suggests that myosin inhibition may represent a therapeutic option for LVOT obstruction beyond classical sarcomeric hypertrophic cardiomyopathy.

Published in American Heart Journal Plus Cardiology Research and Practice. The abstract is shown as published and remains the work of its authors; read the full article at the source.

doi.org/10.1016/j.ahjo.2026.100941