Clinical and cardiac magnetic resonance characteristics of nine cases of Fabry disease
- VernacularTitle:9例法布雷病患者的临床及心脏磁共振成像特征分析
- Author:
Li ZHANG
1
;
Tuo HE
;
Guirong ZHANG
;
Wei HUANG
;
Yanyan ZHANG
;
Jingyi HU
;
Chengxi YAN
;
Dun DING
Author Information
- Publication Type:Journal Article
- Keywords: Fabry disease(FD); cardiomyopathy; magnetic resonance imaging; T1 mapping; clinical charac-teristic
- From: Journal of Xi'an Jiaotong University(Medical Sciences) 2025;46(6):974-978
- CountryChina
- Language:Chinese
- Abstract: Objective To analyze the clinical and cardiac magnetic resonance(CMR)characteristics of patients with Fabry disease(FD)and evaluate the application value of CMR in the early diagnosis of cardiac involvement in FD.Methods This retrospective study involved nine patients with FD confirmed by renal biopsy pathology and genetic testing at our hospital between January 2021 and October 2024.Their clinical baseline data,laboratory test reuslts,and CMR images were collected.CMR images were analyzed using CVI42 software to generate functional,morphological,and structural parameters.Results In this study,78％of the patients were male,and a high proportion(67％)had a family history of FD.Electrocardiographic abnormalities were observed in eight patients(89％),while 33％reported acroparesthesia and 22％exhibited cornea verticillata,a characteristic ocular manifestation of FD.Left ventricular hypertrophy was present in four patients,with one case also showing right ventricular hypertrophy.Late gadolinium enhancement(LGE)was positive in one patient,presenting as intermural enhancement.The mean left ventricular ejection fraction(LVEF)was within the normal range.T1 mapping demonstrated that both global and segmental native T1 values in the left ventricular myocardium were below 1 200 ms.Conclusion Multimodal CMR imaging provides crucial imaging evidence for the diagnosis of FD,with native T1 mapping showing significant clinical potential for disease staging.
