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

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LI Yuguo ZHAO Ren YU Yongqiang HOU Weishu LI Xiaohu

Cite this article as: LI Y G, ZHAO R, YU Y Q, et al. Advances in the application of cardiac MRI in diagnosis of Fabry disease[J]. Chin J Magn Reson Imaging, 2023, 14(12): 172-176. DOI:10.12015/issn.1674-8034.2023.12.031.

Abstract

[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.

[Keywords] Fabry disease；cardiac magnetic resonance；magnetic resonance imaging；T1 mapping；left ventricular hypertrophy；cardiomyopathy

Contributor Information

LI Yuguo¹ ZHAO Ren² YU Yongqiang¹ HOU Weishu¹ LI Xiaohu¹

¹ Department of Medical Imaging, the First Affiliated Hospital of Anhui Medical University, Hefei 230022, China

² Department of Cardiovascular Medicine, the First Affiliated Hospital of Anhui Medical University, Hefei 230022, China *Correspondence to: LI X H, E-mail: lixiaohu@ahmu.edu.cn

Conflicts of interest None.

Publication Information

ACKNOWLEDGMENTS National Natural Science Foundation of China (No. 82071897).

Received 2022-05-01

Accepted 2023-11-27

DOI: 10.12015/issn.1674-8034.2023.12.031

Text

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