Abstract

In this report, we present a rare case of severe mitral regurgitation due to isolated mitral valve chordal rupture without valve leaflet prolapse in a patient with Fabry cardiomyopathy. This finding could be due to subvalvular apparatus storage of glycosphingolipids rather than fibro-elastic deficiency, underlying how close cardiological follow-up of Fabry patients must be comprehensive and not only focused on left ventricular hypertrophy and arrhythmias. We feel that our finding could be of interest for the readership of your Journal.