Progression of Left Ventricular Fibrosis in a Woman with Anderson-Fabry Disease: Longitudinal Observations Using Two-Dimensional Speckle-Tracking Echocardiography

摘要

class="kwd-title">Keywords: Anderson-Fabry disease, Cardiac magnetic resonance imaging, Echocardiography, Speckle-tracking class="head no_bottom_margin" id="sec1title">IntroductionAnderson-Fabry disease (AFD) is a rare X-linked genetic lysosomal storage disease with an estimated prevalence of 1:40,000 to 1:60,000 in men. Early detection of cardiac involvement in patients with AFD is important because early medical intervention with enzyme replacement therapy (ERT) helps preclude irreversible fibrosis in the heart and may prevent cardiovascular complications. Here, we present a case of AFD in a woman who developed myocardial fibrosis that could be observed by serial echocardiography using two-dimensional (2D) speckle-tracking imaging, which is a novel modality for assessing cardiac function.