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ArticleEuropean radiology2025

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

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

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Article in European radiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

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4citing papers in PubMed
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3 · Its place in the literature

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4 citing papers in PubMed.

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5 · Who and what money

Authors and funding

8 authors.

Jialin LiDepartment of Cardiology, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan Province, China.
Lutong PuDepartment of Cardiology, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan Province, China.
Ziqian XuDepartment of Radiology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Ke WanDepartment of Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Yuanwei XuDepartment of Cardiology, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan Province, China.
Jie WangDepartment of Cardiology, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan Province, China.
Yuchi HanWexner Medical Center, College of Medicine, The Ohio State University, Columbus, USA.
Yucheng ChenDepartment of Cardiology, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan Province, China. chenyucheng2003@163.com.ORCID http://orcid.org/0000-0001-8480-4054

Funding

Innovative Research Group Project of the National Natural Science Foundation of China 82202248Natural Science Foundation of Sichuan Province 23NSFSC4589West China Hospital, Sichuan University 23HXFH041
6 · The paper itself

Abstract

backgroundFabry 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

methodsA 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.

resultsFD 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%).

conclusionNative 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.

Indexed as

Cardiomyopathy, HypertrophicFabry DiseaseMagnetic Resonance ImagingAdultAgedContrast MediaDiagnosis, DifferentialFemaleHumansMagnetic Resonance Imaging, CineMaleMiddle AgedProspective StudiesContrast MediaCardiac magnetic resonance (CMR)Fabry disease (FD)Hypertrophic cardiomyopathy (HCM)

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.