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Characteristics of the left ventricular myocardial strain in Fabry disease and its value in differential diagnosis of hypertrophic cardiomyopathy
YANG Kai  LI Changcheng  XU Yangfei  WANG Jiaxin  DONG Zhixiang  YANG Shujuan  YU Shiqin  SONG Yanyan  MA Xuan  CUI Chen  CHEN Xiuyu  LU Minjie  ZHAO Shihua 

Cite this article as: Yang K, Li CC, Xu YF, et al. Characteristics of the left ventricular myocardial strain in Fabry disease and its value in differential diagnosis of hypertrophic cardiomyopathy[J]. Chin J Magn Reson Imaging, 2022, 13(12): 13-19, 25. DOI:10.12015/issn.1674-8034.2022.12.003.


[Abstract] Objective To analyze the characteristics of left ventricular myocardial strain in Fabry disease and its value in differential diagnosis of hypertrophic cardiomyopathy (HCM).Materials and Methods A total of 10 cases with Fabry disease confirmed by pathology or gene in our hospital from January 2018 to June 2022 were retrospectively analyzed. At the same time, clinical data of 20 sex-and age-matched HCM patients and 20 normal controls (normal control group) were included. The clinical baseline data, MR parameters and left ventricular strain were compared between Fabry disease group and normal control group or HCM group.Results Among the Fabry disease group (6 were female and 4 were male, and the age was 50.6±9.7 years), nine patients had clinical symptoms, including 6 patients with renal dysfunction or peripheral neuralgia. Compared with the normal control group, the left ventricular ejection fraction in the Fabry disease group was not significantly decreased [(63.1±7.8)% vs. (64.4±4.3)%, P=0.641], but the global strain in the three directions and the corresponding systolic and early diastolic strain rates were significantly decreased (all P＜0.001). Compared with the HCM group, the global radial strain (GRS) and global circumferential strain (GCS) of Fabry disease group were significantly decreased (all P＜0.05). Multivariate logistic regression analysis showed that GRS was independently correlated with Fabry disease (OR=0.84, 95% CI: 0.72-0.97, P=0.017), and the area under the curve (AUC) to distinguish Fabry disease from HCM was 0.813.Conclusions Left ventricular strain can early reflect subclinical myocardial dysfunction in patients with Fabry disease. GRS can effectively distinguish Fabry disease from HCM, which is a new diagnostic index with potential value.
[Keywords] Fabry disease；hypertrophic cardiomyopathy；myocardial hypertrophy；strain；magnetic resonance imaging；cardiac magnetic resonance feature tracking technology；cardiac magnetic resonance cine imaging

YANG Kai1   LI Changcheng2   XU Yangfei3   WANG Jiaxin1   DONG Zhixiang1   YANG Shujuan1   YU Shiqin1   SONG Yanyan1   MA Xuan1   CUI Chen1   CHEN Xiuyu1   LU Minjie1   ZHAO Shihua1*  

1 Department of Magnetic Resonance Imaging, Fuwai Hospital, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China

2 Department of Radiology, Taian City Hospital (Taian Central Hospital Affiliated to Qingdao University), Taian 271099, China

3 Department of Radiology, Chizhou City People's Hospital, Chizhou 247100, China

Zhao SH, E-mail: cjrzhaoshihua2009@163.com

Conflicts of interest   None.

ACKNOWLEDGMENTS National Key Research and Development Program of China (No. 2021YFF0501400, 2021YFF0501404); Key Project of National Natural Science Foundation of China (No. 81930044).
Received  2022-08-14
Accepted  2022-12-08
DOI: 10.12015/issn.1674-8034.2022.12.003
Cite this article as: Yang K, Li CC, Xu YF, et al. Characteristics of the left ventricular myocardial strain in Fabry disease and its value in differential diagnosis of hypertrophic cardiomyopathy[J]. Chin J Magn Reson Imaging, 2022, 13(12): 13-19, 25. DOI:10.12015/issn.1674-8034.2022.12.003.

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