Screening for Fabry disease in patients with hypertrophic cardiomyopathy using cardiac magnetic resonance imaging.

IF 4.7 2区医学 Q1 RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING

European Radiology Pub Date : 2024-11-19 DOI:10.1007/s00330-024-11203-7

Jialin Li, Lutong Pu, Ziqian Xu, Ke Wan, Yuanwei Xu, Jie Wang, Yuchi Han, Yucheng Chen

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引用次数: 0

Abstract

Background: Fabry disease (FD) usually mimics hypertrophic cardiomyopathy (HCM). Decreased native T1 mapping and a unique late gadolinium enhancement (LGE) pattern by cardiac magnetic resonance (CMR) imaging are specific imaging markers for FD.

Purpose: Explore the performance of multiparametric CMR imaging in screening for FD in patients with a HCM phenotype.

Materials and methods: A prospective cohort of 602 patients with a HCM phenotype was assessed from April 2012 to December 2022. Participants underwent CMR imaging and genetic testing. FD diagnosis was according to genetic testing and enzyme-activity test of α-galactosidase A. Multiparameter CMR imaging included cardiac function, native T1 mapping, extracellular volume (ECV), T2 mapping, LGE, and myocardial strains. Diagnostic performance of CMR parameters in identifying FD from HCM was done by analysis of receiver operating characteristic (ROC) curves.

Results: FD prevalence was 1.8% (11 cases) in this cohort with HCM. Native T1 mapping was significantly lower in FD compared with HCM (FD vs. HCM: native T1 mapping: 1174.08 ± 60.60 vs. 1293.94 ± 55.86, p < 0.001). Ventricular function, mass, ventricular wall thickness, and strains did not show significant differences between the two groups. Binary logistic regression and analysis of ROC curves demonstrated myocardial native T1 mapping of the left ventricular basal slice had the best performance in screening for FD in patients with a HCM phenotype (cutoff: 1216 ms; AUC: 0.947; sensitivity: 91%; specificity: 90%).

Conclusion: Native T1 mapping is the best parameter for screening FD in a Chinese population with a HCM phenotype.

Key points: Question The prevalence of Fabry Disease (FD) in the study population is unknown and the efficacy of cardiac MRI (CMR) parameter screening for FD needs validating. Findings We report the prevalence of FD among a Chinese hypertrophic cardiomyopathy (HCM) cohort and found T1 mapping is the best CMR parameter for screening FD. Clinical relevance Native T1 mapping is the best CMR parameter for screening FD in the HCM cohort, providing an effective method for rapid screening of FD in clinic, which may help identify patients for early treatment of FD.

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利用心脏磁共振成像筛查肥厚型心肌病患者的法布里病。

背景：法布里病（FD）通常模拟肥厚型心肌病（HCM）。心脏磁共振成像（CMR）显示的原生 T1 映射降低和独特的晚期钆增强（LGE）模式是 FD 的特异性成像标记：2012年4月至2022年12月，对602名HCM表型患者进行了前瞻性队列评估。参与者接受了 CMR 成像和基因检测。多参数CMR成像包括心功能、原生T1图谱、细胞外容积（ECV）、T2图谱、LGE和心肌应变。通过分析接收器操作特征曲线（ROC），确定了 CMR 参数在从 HCM 鉴别 FD 方面的诊断性能：结果：在这批 HCM 患者中，FD 患病率为 1.8%（11 例）。与 HCM 相比，FD 的原生 T1 映射明显较低（FD 与 HCM：原生 T1 映射：1174.08 ± 60.60）：1174.08 ± 60.60 vs. 1293.94 ± 55.86, p 结论：在具有 HCM 表型的中国人群中，原生 T1 图谱是筛查 FD 的最佳参数：问题法布里病（FD）在研究人群中的患病率尚不清楚，心脏磁共振成像（CMR）参数筛查 FD 的有效性需要验证。研究结果我们报告了中国肥厚型心肌病（HCM）队列中法布里病的患病率，发现T1图谱是筛查法布里病的最佳CMR参数。临床意义 T1映射是筛查肥厚型心肌病的最佳CMR参数，为临床快速筛查肥厚型心肌病提供了有效方法，有助于识别肥厚型心肌病患者并进行早期治疗。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

European Radiology 医学-核医学

CiteScore

11.60

自引率

8.50%

发文量

874

审稿时长

2-4 weeks

期刊介绍： European Radiology (ER) continuously updates scientific knowledge in radiology by publication of strong original articles and state-of-the-art reviews written by leading radiologists. A well balanced combination of review articles, original papers, short communications from European radiological congresses and information on society matters makes ER an indispensable source for current information in this field. This is the Journal of the European Society of Radiology, and the official journal of a number of societies. From 2004-2008 supplements to European Radiology were published under its companion, European Radiology Supplements, ISSN 1613-3749.