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

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.
Competing Interests: Compliance with ethical standards Guarantor The scientific guarantor of this publication is Yucheng Chen, MD, FACC, FSCMR, Professor, Department of Cardiology, West China Hospital, Sichuan University, Guoxue Xiang No. 37, Chengdu, Sichuan Province 610041, P. R. China. Conflict of interest The authors of this manuscript declare no relationships with any companies, whose products or services may be related to the subject matter of the article. Statistics and biometry No complex statistical methods were necessary for this paper. Informed consent Written informed consent was obtained from all subjects (patients) in this study. Ethical approval Institutional Review Board approval was obtained. Study subjects or cohorts overlap No study subjects or cohorts have been previously reported. Methodology ProspectiveDiagnostic studyPerformed at one institution
(© 2024. The Author(s), under exclusive licence to European Society of Radiology.)