Myocardial T1 native mapping and extracellular volume in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations

Abstract Background Female carriers of dystrophin gene mutations (DMD-FC) were previously considered non-manifesting, but in recent decades, cardiomyopathy associated with muscular dystrophy and myocardial fibrosis has been described. Our study aimed to assess prospectively myocardial fibrosis in asymptomatic DMD-FC compared to a sex- and age-matched control group (CG) using T 1 native mapping and extracellular volume (ECV) by cardiovascular magnetic resonance (CMR) imaging. To our knowledge, this approach has not been published yet. Material and methods 38 DMD-FC (mean age 39.1 ± 8.8 years) and 22 CG (mean age 39.9 ± 12.6 years) were included. Using CMR, T 1 native relaxation time and ECV were determined in each group. Late gadolinium enhancement (LGE) was assessed in all cases. Results T 1 native relaxation time was similar for DMD-FC and CG (1005.1 ± 26.3 ms vs 1003.5 ± 25.0 ms; p-value = 0.81). Likewise, the global ECV was also similar between the groups (27.92 ± 2.02% vs 27.10 ± 2.89%; p-value = 0.20). The segmental analysis of ECV according to the American Heart Association classification did not show any differences between DMD-FC and CG. Conclusion There were no statistically significant differences in the global T 1 native relaxation time and global or segmental ECV.