Abstract
BackgroundCardiovascular magnetic resonance (CMR) derived native myocardial T1 is decreased in patients with Fabry disease even before left ventricular hypertrophy (LVH) occurs and may be the first non-invasive measure of myocyte sphingolipid storage. The relationship of native T1 lowering prior to hypertrophy and other candidate early phenotype markers are unknown. Furthermore, the reproducibility of T1 mapping has never been assessed in Fabry disease.MethodsSixty-three patients, 34 (54%) female, mean age 48 ± 15 years with confirmed (genotyped) Fabry disease underwent CMR, ECG and echocardiographic assessment. LVH was absent in 25 (40%) patients. Native T1 mapping was performed with both Modified Look-Locker Inversion recovery (MOLLI) sequences and a shortened version (ShMOLLI) at 1.5 Tesla. Twenty-one patients underwent a second scan within 24 hours to assess inter-study reproducibility. Results were compared with 63 healthy age and gender-matched volunteers.ResultsMean native T1 in Fabry disease (LVH positive), (LVH negative) and healthy volunteers was 853 ± 50 ms, 904 ± 46 ms and 968 ± 32 ms (for all p < 0.0001) by ShMOLLI sequences. Native T1 showed high inter-study, intra-observer and inter-observer agreement with intra-class correlation coefficients (ICC) of 0.99, 0.98, 0.97 (ShMOLLI) and 0.98, 0.98, 0.98 (MOLLI). In Fabry disease LVH negative individuals, low native T1 was associated with reduced echocardiographic-based global longitudinal speckle tracking strain (−18 ± 2% vs −22 ± 2%, p = 0.001) and early diastolic function impairment (E/E’ = 7 [6–8] vs 5 [5–6], p = 0.028).ConclusionNative T1 mapping in Fabry disease is a reproducible technique. T1 reduction prior to the onset of LVH is associated with early diastolic and systolic changes measured by echocardiography.
Highlights
Cardiovascular magnetic resonance (CMR) derived native myocardial T1 is decreased in patients with Fabry disease even before left ventricular hypertrophy (LVH) occurs and may be the first non-invasive measure of myocyte sphingolipid storage
In Fabry disease with LVH, both our group and another have shown that native myocardial T1 is substantially lower compared to other LVH aetiologies [12,13] and around half of Fabry disease patients without LVH have T1 lowering when compared to healthy volunteers [13]
Native T1 mapping has the potential role in clinical evaluation and management of Fabry disease patients and as a tool to help in understanding the biology of myocardial storage
Summary
Cardiovascular magnetic resonance (CMR) derived native myocardial T1 is decreased in patients with Fabry disease even before left ventricular hypertrophy (LVH) occurs and may be the first non-invasive measure of myocyte sphingolipid storage. The known lowering of T1 by fat and the early spectroscopic results suggest that native T1 may be directly measuring myocardial storage in Fabry disease [12]. Native T1 mapping has the potential role in clinical evaluation (prognosis, differential diagnosis and early detection) and management (timing of therapy and follow up) of Fabry disease patients and as a tool to help in understanding the biology of myocardial storage. Several questions regarding the use of T1 mapping in Fabry disease remain, its reproducibility and whether low native T1 in LVH negative patients is a real marker of early disease with potential functional consequences
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