Ponsiglione Andrea, De Giorgi Marco, Ascione Raffaele, Nappi Carmela, Sanduzzi Luca, Pisani Antonio, Dell'Aversana Serena, Cuocolo Alberto, Imbriaco Massimo
Department of Advanced Biomedical Sciences, University of Naples Federico II, 80131 Naples, Italy.
Department of Diagnostic Imaging, Pineta Grande Hospital, 81030 Castel Volturno, Italy.
Diagnostics (Basel). 2023 Aug 4;13(15):2598. doi: 10.3390/diagnostics13152598.
Anderson-Fabry disease (AFD) is a rare multisystem X-linked lysosomal storage disorder caused by α-galactosidase A enzyme deficiency. Long-term cardiac involvement in AFD results in left ventricular hypertrophy and myocardial fibrosis, inducing several complications, mainly arrhythmias, valvular dysfunction, and coronary artery disease. Cardiac magnetic resonance (CMR) represents the predominant noninvasive imaging modality for the assessment of cardiac involvement in the AFD, being able to comprehensively assess cardiac regional anatomy, ventricular function as well as to provide tissue characterization. This review aims to explore the role of the most advanced CMR techniques, such as myocardial strain, T1 and T2 mapping, perfusion and hybrid imaging, as diagnostic and prognostic biomarkers.
安德森-法布里病(AFD)是一种罕见的多系统X连锁溶酶体贮积症,由α-半乳糖苷酶A酶缺乏引起。AFD长期的心脏受累会导致左心室肥厚和心肌纤维化,引发多种并发症,主要是心律失常、瓣膜功能障碍和冠状动脉疾病。心脏磁共振成像(CMR)是评估AFD心脏受累情况的主要非侵入性成像方式,能够全面评估心脏局部解剖结构、心室功能,并提供组织特征信息。本综述旨在探讨最先进的CMR技术,如心肌应变、T1和T2 mapping、灌注成像和混合成像,作为诊断和预后生物标志物的作用。