PT  - JOURNAL ARTICLE
AU  - Ravi Vijapurapu
AU  - Sabrina Nordin
AU  - Shanat Baig
AU  - Boyang Liu
AU  - Stefania Rosmini
AU  - Joao Augusto
AU  - Michel Tchan
AU  - Derralynn A Hughes
AU  - Tarekegn Geberhiwot
AU  - James C Moon
AU  - Richard Paul Steeds
AU  - Rebecca Kozor
TI  - Global longitudinal strain, myocardial storage and hypertrophy in Fabry disease
AID  - 10.1136/heartjnl-2018-313699
DP  - 2019 Mar 01
TA  - Heart
PG  - 470--476
VI  - 105
IP  - 6
4099  - http://heart.bmj.com/content/105/6/470.short
4100  - http://heart.bmj.com/content/105/6/470.full
SO  - Heart2019 Mar 01; 105
AB  - 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.