Department of Emergency Medicine, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Department of Cardiovascular and Thoracic Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Echocardiography. 2021 Dec;38(12):2109-2111. doi: 10.1111/echo.15228. Epub 2021 Oct 28.
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.
在本报告中，我们介绍了一例罕见的法布利心肌病患者孤立性二尖瓣腱索断裂导致严重二尖瓣反流的病例，无瓣叶脱垂。这种发现可能是由于瓣下装置中糖脂的沉积，而不是纤维弹性缺失，这表明对法布利患者的心脏随访必须全面，而不仅仅关注左心室肥厚和心律失常。
