Key result
Classical Fabry disease shows reduced native T1 and impaired strain, unlike p.D313Y and p.A143T variants.
Why the study?
Cardiac manifestation of classical Fabry disease varies with sex and left ventricular hypertrophy, but data on the milder late-onset p.D313Y/p.A143T variants are scarce.
Does multiparametric CMR (T1 mapping and feature tracking strain) detect cardiac involvement in classical and variant Fabry disease compared to healthy controls?
Cross-Sectional (n=65)
Blinded observers
No
Does multiparametric CMR (T1 mapping and feature tracking strain) detect cardiac involvement in classical and variant Fabry disease compared to healthy controls?
Multiparametric CMR including native T1 mapping and feature tracking strain can detect impaired cardiac mechanics in classical Fabry disease, but variants p.D313Y and p.A143T do not show significant cardiac involvement.
Answers are grounded in this paper and cite their sources.
CMR with T1 mapping and strain may aid detection in classical Fabry; hypothesis-generating for variant screening and pathogenicity.
Cardiac manifestation of classical Fabry disease (cFD) varies with sex and presence of left ventricular hypertrophy. p.D313Y/p.A143T variants (vFD) represent milder late-onset phenotypes, however, data on vFD are scarce. Patients with FD (cFD = 37;vFD = 14) and 14 healthy controls underwent 1.5 T CMR including Cine, LGE, native T1 mapping(nT1) and myocardial strain(CMR-FT). CMR-FT was assessed using ventricular longitudinal, circumferential, radial (LV-GLS/RV-GLS, LV-GCS/LV-GRS), and atrial longitudinal strain (LA/RA Total , LA/RA Conduit , LA/RA Booster ). In cFD reduced myocardial strain (LV-GLS: −20 ± 4 vs. −24 ± 3%, p = 0.007; LV-GCS: −20 ± 4 vs. −26 ± 4%, p = 0.002, LA Total -GLS: 29 ± 10 vs. 37 ± 6%, p = 0.007; LA Conduit -GLS: 15 ± 10 vs. 23 ± 5%, p = 0.003) and nT1 values (951 ± 51 ms vs. 1036 ± 20 ms, p < 0.001) were observed compared to controls. In vFD findings were comparable to controls. LV-GCS provided the closest Area under the curve (AUC) to nT1 (0.84 vs. 0.92, p > 0.05) for discrimination of cFD versus controls. Significantly lower LV-GLS/LV-GCS was found in male compared to female cFD (−19 ± 4 vs. −22 ± 4%, p = 0.03). In six non-hypertrophied female cFD with normal nT1 LA Total -GLS was the only discriminating parameter with an accuracy of 86%. LV-GLS, LV-GCS and LA Total -GLS can detect impaired cardiac mechanics of cFD besides nT1. LA Total -GLS might identify non-hypertrophied female cFD. Variants p.D313Y/p.A143T did not reveal cardiac involvement by multiparametric CMR.
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Avanesov et al. (2023) conducted a cross-sectional in Fabry disease (n=65). Classical Fabry disease vs. Healthy controls was evaluated on Native T1 mapping (ms) (p=<0.001). Classical Fabry disease patients exhibited significantly reduced native T1 values and impaired myocardial strain compared to controls, whereas p.D313Y and p.A143T variants showed no cardiac involvement.
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