- Walking poster presentation
- Open Access
ECG, LVH and T1 changes in Fabry disease - implications for screening and understanding of the disease model
Journal of Cardiovascular Magnetic Resonance volume 18, Article number: Q48 (2016)
Fabry disease is a rare X-linked condition that results in storage of sphingolipids in multiple organs including the heart. The cardiac phenotype consists mainly of conduction abnormalities, left ventricular hypertrophy (LVH) and disease progression (fibrosis, arrhythmias and heart failure).
CMR LGE classically shows basal inferolateral LGE. Native T1 mapping has recently shown a low T1 likely to represent myocycte storage of fat, even when no LVH is present. We sought to understand the relationship of storage to LVH and ECG abnormalities.
67 genetically confirmed Fabry disease patients underwent CMR (function, T1 mapping, LGE) on a 1.5T Siemens Avanto with a concurrent 12 lead ECG. LVH was defined by mass index (LVMi) and a wall thickness ≥12 mm. Native T1 mapping used ShMOLLI with a region of interest drawn in the septum in a basal short axis view, and 900 ms considered the lower limit of normal. An abnormal ECG was defined by a prolonged PR interval (>200 ms), prolonged QRS duration (>120 ms), the presence of T-wave inversions, and/or LVH by Sokolow criteria.
The 67 Fabry patients had a mean age of 46 ± 14 years, females 70% (47/67), and good LV function (LVEF 76 ± 7%). LVH was present in 43% (29/67) by wall thickness and 48% (32/67) by mass index.
T1 with LVH: 69% (46/67) had low native T1 values. Low T1 was more common in LVH positive than LVH negative subjects (86% vs 55%, mean 854 ± 53 vs 897 ± 46 ms, p = 0.001). However, 55% (21/38) of the LVH-negative subjects had low T1 values, and 14% (4/29) of LVH-positive subjects had a normal T1.
T1 with ECG: 64% (43/67) had abnormal ECGs, (Table 1; results stratified by T1 and LVH). ECG abnormalities were highly correlated to LVH by wall thickness (13 ± 9 vs 9 ± 2 mm, p < 0.001) and LVMi (98 ± 36 vs 67 ± 22 g/m2, p = 0.001) with lower T1 values in those with ECG abnormalities (863 ± 52 vs 906 ± 44 ms, p = 0.001).
In subjects without LVH, when the T1 was low, 12/21(58%) had an abnormal ECG, and 6/17 (33%) when the T1 was normal.
In gene positive Fabry disease subjects, LVH has a low T1 85% of the time, but half of all LVH-negative patients have a low T1. When there is no LVH, ECG abnormalities are slightly more common in those with a low T1 - but up to 1 in 3 have ECG abnormalities before apparent storage. The most plausible explanations for this are either that T1 can miss some storage, or that there may be other Fabry effects other than storage - (toxic metabolites are proposed).
Rights and permissions
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 https://creativecommons.org/licenses/by/4.0/.
The Creative Commons Public Domain Dedication waiver (https://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
About this article
Cite this article
Kozor, R., Nordin, S., Abdel-Gadir, A. et al. ECG, LVH and T1 changes in Fabry disease - implications for screening and understanding of the disease model. J Cardiovasc Magn Reson 18 (Suppl 1), Q48 (2016). https://doi.org/10.1186/1532-429X-18-S1-Q48
- Leave Ventricular Hypertrophy
- Fabry Disease
- Short Axis View
- Apparent Storage
- Cardiac Phenotype