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• Clinical Article •
Value of cardiac magnetic resonance in patients with late-onset cardiac phenotype fabry disease carrying the c.640-801G > A mutation
XU Yilin  CHEN Rui  JIANG Yuhang  DAI Xiaomin  CHEN Hong  MA Mingping  YIN Lei 

Cite this article as XU Y L, CHEN R, JIANG Y H, et al. Value of cardiac magnetic resonance in patients with late-onset cardiac phenotype fabry disease carrying the c.640-801G > A mutation[J]. Chin J Magn Reson Imaging, 2026, 17(6): 71-78. DOI:10.12015/issn.1674-8034.2026.06.009.


[Abstract] Objective To investigate the value of cardiac magnetic resonance (CMR) in differentiating patients with late-onset cardiac phenotype Fabry disease (FD) carrying the c.640-801G > A mutation from patients with hypertrophic cardiomyopathy (HCM).Materials and Methods A total of 28 patients with FD who visited Fuzhou University Affiliated Provincial Hospital between November 2019 and October 2024 were retrospectively enrolled as the FD group. A demographically matched cohort of 28 patients with HCM was enrolled as the HCM group, along with 28 healthy controls (HC). Clinical baseline data were collected from all patients and healthy subjects. Standard CMR examinations were performed using a 3.0 T MRI scanner. Depending on the normality of distribution, continuous variables were compared using parametric tests (independent samples t-test) or non-parametric tests (Mann-Whitney U test). Proportions were analyzed using Fisher's exact test. Multiple comparisons for continuous variables were corrected using the Bonferroni method. The efficacy of native T1 mapping in differentiating FD from HCM was assessed by the area under the curve (AUC).Results Left ventricular hypertrophy (LVH) was present in 24 of the 28 FD patients (86%) and all 28 HCM patients (100%), with no significant difference between the groups (P = 0.111). However, the left ventricular lateral wall thickness was significantly greater in FD patients compared to both HCM patients and HCs (P < 0.001). Furthermore, the septal-to-lateral wall ratio was significantly lower in FD than in HCM (P < 0.001), indicating a more symmetrical pattern of LVH in FD. Regarding late gadolinium enhancement (LGE), there was no significant difference in the overall presence of any LGE between the FD and HCM groups (P > 0.999). However, LGE in the basal inferolateral wall (P < 0.001) and at the apex (P = 0.029) was significantly more common in FD compared to HCM. Native T1 values were significantly lower in FD than in HCM for global T1 (P < 0.001), septal T1 (P < 0.001), and T1 within LGE areas (P < 0.001). Compared to HC, FD patients had significantly lower septal native T1 values (P = 0.001), while global native T1 values showed no significant difference (P = 0.121). Native T1 cutoff values of 1240 ms in the interventricular septum, 1273 ms in the global left ventricle, and 1302 ms in LGE areas could effectively differentiate FD from HCM. Septal native T1 demonstrated the strongest discriminative power, with a sensitivity of 89.3%, specificity of 96.43%, positive likelihood ratio of 25.0, and negative likelihood ratio of 0.11.Conclusions CMR can effectively differentiate patients with the late-onset cardiac phenotype of FD carrying the c.640-801G > A mutation from those with HCM. Compared with HCM, patients with this FD phenotype exhibit a decreased native T1 value on CMR images, an LGE pattern predominantly involving the basal inferolateral segment of the left ventricle, and relatively symmetric LVH. The finding of normal global native T1 values in the presence of extensive LGE suggests pseudo-normalization of native T1.
[Keywords] late-onset fabry disease；c.640-801G > A；hypertrophic cardiomyopathy；cardiac magnetic resonance；pseudo-normalization；magnetic resonance imaging

XU Yilin   CHEN Rui   JIANG Yuhang   DAI Xiaomin   CHEN Hong   MA Mingping   YIN Lei*  

Department of Radiology, Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, Fuzhou 350001, China

Corresponding author: YIN L, E-mail: yinlei0591@163.com

Conflicts of interest   None.

Received  2026-02-04
Accepted  2026-05-27
DOI: 10.12015/issn.1674-8034.2026.06.009
Cite this article as XU Y L, CHEN R, JIANG Y H, et al. Value of cardiac magnetic resonance in patients with late-onset cardiac phenotype fabry disease carrying the c.640-801G > A mutation[J]. Chin J Magn Reson Imaging, 2026, 17(6): 71-78. DOI:10.12015/issn.1674-8034.2026.06.009.

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