Biventricular strain assessment indicates progressive impairment of myocardial contractility in phenotypically negative patients with Fabry's disease. Issue 155 (October 2022)

• Record Type: Journal Article
• Authors: Halfmann, Moritz C.; Benz, Sebastian; Schoepf, U. Joseph; Hennermann, Julia B.; Kreitner, Karl-Friedrich; Lollert, André; Dueber, Christoph; Altmann, Sebastian; Varga-Szemes, Akos; Kampmann, Christoph; Emrich, Tilman
• Is Part Of: European journal of radiology. Issue 155(2022)
• Publication Date: 2022-10
• Subjects: Feature-tracking strain -- Fabry's disease -- Right ventricle -- Myocardial hypertrophy; AUC area under the curve -- BSA body surface area -- bSSFP balanced steady-state free-precession -- CMR cardiac magnetic resonance -- EDV enddiastolic volume -- EF ejection fraction -- ERT Enzyme replacement therapy -- ESV endsystolic volume -- FD Fabry's disease -- FOV field of view -- FT feature-tracking -- GCS global circumferential strain -- GLS global longitudinal strain -- GRS global radial strain -- HV healthy volunteers -- ICC intraclass correlation coefficient -- LGE late gadolinium enhancement -- LV left ventricular -- LVH left ventricular hypertrophy -- LVMi left ventricular mass index -- ROC receiver operating characteristic -- RVMi right ventricular mass index -- TE echo time -- TR repetition time; Medical radiology -- Periodicals; Radiology -- Periodicals; Radiologie médicale -- Périodiques; Medical radiology; Periodicals; 616.075705
• DOI: 10.1016/j.ejrad.2022.110471
• Languages: English
• ISSNs: 0720-048X

Abstract

Graphical abstract: Highlights: Strain assessment detects altered myocardial deformation in early Fabry's disease. Strain further improved diagnostic accuracies of established diagnostic approaches. Early detection might enable a window for initiation of disease specific treatment. Further studies are needed to evaluate efficacy of earlier initiation of treatment. Abstract: Purpose: The accumulation of sphingolipids in Fabry's disease (FD) leads to left ventricular (LV) hypertrophy and shortened T1 in cardiac magnetic resonance (CMR). Early detection of myocardial involvement is essential for the timely initiation and efficacy of enzyme replacement therapy. However, there is a diagnostic gap between the onset of accumulation and detectable myocardial changes. This study aimed to evaluate the diagnostic value of biventricular strain assessment in early FD. Methods: Genetically proven FD patients (n = 58) and healthy volunteers (HV, n = 62) who had undergone 3 T CMR were retrospectively identified and stratified into 3 groups according to disease severity. Biventricular volumetry, global longitudinal strains (GLS), indexed biventricular masses (RVMi/LVMi), and T1 were evaluated. Group comparisons were performed by ANOVA and diagnostic accuracy was evaluated by ROC-analysis. Results: The study population included 19 group I, 20 group II and 19 group III patients. LV volumetry and T1 showed no significant difference between early FD patients and HV (all p > 0.760). However, RVMi was increased, while RV-GLS and LV-GLS were significantly impaired (p = 0.024 and < 0.001, respectively). Biventricular strains accurately discriminated early FD patients and HV with RV-GLS being non-inferior to LV-GLS (AUC for both 0.83, p > 0.05). Adding strains to the established approach using T1 and LVMi further increased diagnostic accuracy (AUC 0.99, p < 0.05). Conclusions: Biventricular strains may help detect altered myocardial deformation patterns in phenotypically negative FD patients. These findings may lead to an earlier initiation of therapy, which in turn may slow hypertrophy and the associated long-term risks.