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Advances in the application of cardiac MRI in diagnosis of Fabry disease

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Author:
No author available
Journal Title:
Chinese Journal of Magnetic Resonance Imaging
Issue:
12
DOI:
10.12015/issn.1674-8034.2023.12.031
Key Word:
法布雷病;心脏磁共振;磁共振成像;T1 mapping;左心室肥厚;心肌病;Fabry disease;cardiac magnetic resonance;magnetic resonance imaging;T1 mapping;left ventricular hypertrophy;cardiomyopathy

Abstract: Fabry disease is a rare X-linked genetic lysosomal storage disorder,which leads to reduction of α-galactosidase A and accumulation of metabolic substrates in heart and other organs.Cardiac magnetic resonance(CMR)with development of new techniques,such as mapping analysis,late gadolinium enhancement(LGE)assessment,strain imaging and perfusion imaging,plays an important role in distinguishing FD from other hypertrophic heart conditions.CMR offers a comprehensive evaluation of cardiac structure,function,and histological characteristics in a'one-stop shop'approach.Our study comprehensively reviewed the characteristic features of FD in various CMR techniques,including tissue changes in the early stages of the disease.Furthermore,we emphasized the significant role of CMR in early diagnosis,risk stratification,prognosis assessment,and treatment monitoring in FD.The aim is to achieve early and accurate diagnosis of FD in the clinical practice,differentiate FD from other hypertrophic cardiac diseases,thus enabling early intervention and treatment for FD patients,ultimately improving prognosis.

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