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Original research article
Global longitudinal strain, myocardial storage and hypertrophy in Fabry disease
  1. Ravi Vijapurapu1,2,
  2. Sabrina Nordin3,
  3. Shanat Baig1,2,
  4. Boyang Liu1,2,
  5. Stefania Rosmini3,
  6. Joao Augusto3,
  7. Michel Tchan4,
  8. Derralynn A Hughes5,
  9. Tarekegn Geberhiwot6,
  10. James C Moon3,
  11. Richard Paul Steeds1,2,
  12. Rebecca Kozor4
  1. 1 Department of Cardiology, Queen Elizabeth Hospital, Birmingham, UK
  2. 2 Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK
  3. 3 Department of Cardiology, Barts Heart Centre, London, UK
  4. 4 Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia
  5. 5 Lysosomal Storage Disorder Unit, Royal Free Hospital, London, UK
  6. 6 Department of Inherited Metabolic Disorders, Queen Elizabeth Hospital, Birmingham, UK
  1. Correspondence to Dr Rebecca Kozor, Royal North Shore Hospital, St Leonards NSW 2065, Australia; rebeccakozor{at}gmail.com

Abstract

Introduction Detecting early cardiac involvement in Fabry disease (FD) is important because therapy may alter disease progression. Cardiovascular magnetic resonance (CMR) can detect T1 lowering, representing myocardial sphingolipid storage. In many diseases, early mechanical dysfunction may be detected by abnormal global longitudinal strain (GLS). We explored the relationship of early mechanical dysfunction and sphingolipid deposition in FD.

Methods An observational study of 221 FD and 77 healthy volunteers (HVs) who underwent CMR (LV volumes, mass, native T1, GLS, late gadolinium enhancement), ECG and blood biomarkers, as part of the prospective multicentre Fabry400 study.

Results All FD had normal LV ejection fraction (EF 73%±8%). Mean indexed LV mass (LVMi) was 89±39 g/m2 in FD and 55.6±10 g/m2 in HV. 102 (46%) FD participants had left ventricular hypertrophy (LVH). There was a negative correlation between GLS and native T1 in FD patients (r=−0.515, p<0.001). In FD patients without LVH (early disease), as native T1 reduced there was impairment in GLS (r=−0.285, p<0.002). In the total FD cohort, ECG abnormalities were associated with a significant impairment in GLS compared with those without ECG abnormalities (abnormal: −16.7±3.5 vs normal: −20.2±2.4, p<0.001).

Conclusions GLS in FD correlates with an increase in LVMi, storage and the presence of ECG abnormalities. In LVH-negative FD (early disease), impairment in GLS is associated with a reduction in native T1, suggesting that mechanical dysfunction occurs before evidence of sphingolipid deposition (low T1).

Trial registration number NCT03199001; Results.

  • metabolic heart disease
  • cardiac magnetic resonance (CMR) imaging
  • familial cardiomyopathies

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Footnotes

  • Contributors All co-authors contributed to data interpretation and subsequent editing of the manuscript.

  • Funding This study is part of the Fabry400 study (NCT03199001), which is funded by an investigator-led research grant from Genzyme.

  • Competing interests RK has received honoraria from Sanofi-Genzyme.

  • Patient consent Obtained.

  • Ethics approval The study was approved by the relevant Research Ethics Committees and conformed to the principles of the Helsinki Declaration.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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