TY  - JOUR
A1  - Nickander, J
A1  - Cole, B
A1  - Nordin, S
A1  - Vijapurapu, R
A1  - Steeds, RP
A1  - Moon, JC
A1  - Kellman, P
A1  - Ugander, M
A1  - Kozor, R
SN  - 2045-2322
N2  - Fabry disease (FD) is a rare lysosomal storage disorder resulting in myocardial sphingolipid accumulation which is detectable by cardiovascular magnetic resonance as low native T1. However, myocardial T1 contains signal from intramyocardial blood which affects variability and consequently measurement precision and accuracy. Correction of myocardial T1 by blood T1 increases precision. We therefore deployed a multicenter study of FD patients (n = 218) and healthy controls (n = 117) to investigate if blood-correction of myocardial native T1 increases the number of FD patients with low T1, and thus reclassifies FD patients as having cardiac involvement. Cardiac involvement was defined as a native T1 value 2 standard deviations below site-specific means in healthy controls for both corrected and uncorrected measures. Overall low T1 was 135/218 (62%) uncorrected vs. 145/218 (67%) corrected (p = 0.02). With blood-correction, 13/83 previously normal patients were reclassified to low T1. This reclassification appears clinically relevant as 6/13 (46%) of reclassified had focal late gadolinium enhancement or left ventricular hypertrophy as signs of cardiac involvement. Blood-correction of myocardial native T1 increases the proportion of FD subjects with low myocardial T1, with blood-corrected results tracking other markers of cardiac involvement. Blood-correction may potentially offer earlier detection and therapy initiation, but merits further prospective studies.
KW  - Humans
KW  -  Fabry Disease
KW  -  Contrast Media
KW  -  Prospective Studies
KW  -  Ventricular Function
KW  -  Left
KW  -  Gadolinium
KW  -  Myocardium
KW  -  Predictive Value of Tests
KW  -  Magnetic Resonance Imaging
KW  -  Cine
IS  - 1
AV  - public
ID  - discovery10169704
Y1  - 2023/12/01/
UR  - https://doi.org/10.1038/s41598-023-31211-9
TI  - Increased cardiac involvement in Fabry disease using blood-corrected native T1 mapping
N1  - Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
JF  - Scientific Reports
VL  - 13
PB  - Springer Science and Business Media LLC
ER  -