Fuertes Kenneally Laura, García-Álvarez María Isabel, Feliu Rey Eloísa, García Barrios Ana, Climent-Payá Vicente
Heart Failure and Inherited Cardiac Diseases Unit, Cardiology Department, Hospital General Universitario Dr. Balmis, Alicante Institute for Health and Biomedical Research (ISABIAL), 03010 Alicante, Spain.
Radiology Department, Hospital General Universitario Dr. Balmis, Alicante Institute for Health and Biomedical Research (ISABIAL), 03010 Alicante, Spain.
Rev Cardiovasc Med. 2022 May 27;23(6):192. doi: 10.31083/j.rcm2306192. eCollection 2022 Jun.
Fabry disease is a rare X-linked inherited lysosomal storage disorder caused by the absence or reduction of alfa-galactosidase A activity in lysosomes, resulting in accumulation of glycosphingolipids in various tissues. The main organ affected is the heart, which frequently manifests as left ventricular hypertrophy and can ultimately lead to cardiac fibrosis, heart failure, valve disease, cardiac conduction abnormalities and sudden cardiac death. Today we know that myocyte damage starts before these signs and symptoms are detectable on routine studies, during the designated pre-clinical phase of Fabry disease. The initiation of specific therapy for Fabry disease during the early stages of the disease has a great impact on the prognosis of these patients avoiding progression to irreversible fibrosis and preventing cardiovascular complications. Cardiac imaging has become an essential tool in the management of Fabry disease as it can help physicians suspect the disorder, diagnose patients in the early stages and improve outcomes. The recent development of novel imaging techniques makes necessary an update on the subject. This review discusses the role of multimodal imaging in the diagnosis, staging, patient selection for treatment and prognosis of Fabry disease and discusses recent advances in imaging techniques that provide new insights into the pathogenesis of the disorder and the possibility of novel treatment targets.
法布里病是一种罕见的X连锁隐性遗传性溶酶体贮积症，由溶酶体中α-半乳糖苷酶A活性缺乏或降低引起，导致糖鞘脂在各种组织中蓄积。主要受累器官是心脏，常表现为左心室肥厚，并最终可导致心脏纤维化、心力衰竭、瓣膜病、心脏传导异常和心源性猝死。如今我们知道，在法布里病的指定临床前期，即常规检查可检测到这些体征和症状之前，心肌细胞就已开始受损。在疾病早期开始对法布里病进行特异性治疗，对这些患者的预后有很大影响，可避免进展为不可逆纤维化并预防心血管并发症。心脏成像已成为法布里病管理中的一项重要工具，因为它有助于医生怀疑该病、在早期诊断患者并改善预后。新型成像技术的最新发展使得有必要对该主题进行更新。本综述讨论了多模态成像在法布里病的诊断、分期、治疗患者选择和预后中的作用，并讨论了成像技术的最新进展，这些进展为该疾病的发病机制和新治疗靶点的可能性提供了新见解。
