西安交通大学学报（医学版）2025，Vol.46Issue(6)：974-978,5.DOI:10.7652/jdyxb202506012
9例法布雷病患者的临床及心脏磁共振成像特征分析
Clinical and cardiac magnetic resonance characteristics of nine cases of Fabry disease
摘要
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.关键词
法布雷病(FD)/心肌病/磁共振成像/T1 mapping/临床表现Key words
Fabry disease(FD)/cardiomyopathy/magnetic resonance imaging/T1 mapping/clinical charac-teristic分类
医药卫生引用本文复制引用
张莉,何拓,张桂荣,黄玮,张妍妍,胡婧怡,晏乘曦,丁墩..9例法布雷病患者的临床及心脏磁共振成像特征分析[J].西安交通大学学报（医学版）,2025,46(6):974-978,5.基金项目
陕西省重点研发计划资助(No.2023-YBSF-006) （No.2023-YBSF-006）
陕西省自然科学基础研究计划基金资助(No.2022JQ-900)Supported by Shaanxi Provincial Key Research and Development Project(No.2023-YBSF-006)and the Natural Science Foundation of Shaanxi Province(No.2022JQ-900) （No.2022JQ-900）
