安德森-法布里病的心脏成像：过去、现在与未来
Cardiac Imaging in Anderson-Fabry Disease: Past, Present and Future.
作者信息
Esposito Roberta, Santoro Ciro, Mandoli Giulia Elena, Cuomo Vittoria, Sorrentino Regina, La Mura Lucia, Pastore Maria Concetta, Bandera Francesco, D'Ascenzi Flavio, Malagoli Alessandro, Benfari Giovanni, D'Andrea Antonello, Cameli Matteo
机构信息
Department of Clinical Medicine and Surgery, Federico II University Hospital, 80122 Naples, Italy.
Mediterranea Cardiocentro, 80122 Naples, Italy.
出版信息
J Clin Med. 2021 May 6;10(9):1994. doi: 10.3390/jcm10091994.
Anderson-Fabrydisease is an X-linked lysosomal storage disorder caused by a deficiency in the lysosomal enzyme α-galactosidase A. This results in pathological accumulation of glycosphingolipids in several tissues and multi-organ progressive dysfunction. The typical clinical phenotype of Anderson-Fabry cardiomyopathy is progressive hypertrophic cardiomyopathy associated with rhythm and conduction disturbances. Cardiac imaging plays a key role in the evaluation and management of Anderson-Fabry disease patients. The present review highlights the value and perspectives of standard and advanced cardiovascular imaging in Anderson-Fabry disease.
安德森-法布里病是一种X连锁溶酶体贮积症，由溶酶体酶α-半乳糖苷酶A缺乏引起。这导致糖鞘脂在多个组织中病理性蓄积以及多器官进行性功能障碍。安德森-法布里心肌病的典型临床表型是与节律和传导障碍相关的进行性肥厚型心肌病。心脏成像在安德森-法布里病患者的评估和管理中起着关键作用。本综述强调了标准和先进心血管成像在安德森-法布里病中的价值和前景。
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