International Clinical Research Centre, St. Anne's University Hospital, Brno, Czech Republic.
1st Department of Internal Medicine-Cardioangiology, St. Anne's University Hospital, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
Orphanet J Rare Dis. 2023 Sep 11;18(1):283. doi: 10.1186/s13023-023-02899-9.
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-matched control group (CG) with similar age distribution using native T mapping and extracellular volume (ECV) quantification by cardiovascular magnetic resonance (CMR) imaging.
38 DMD-FC with verified genetic mutation and 22 healthy volunteers were included. Using CMR, native T relaxation time and ECV quantification were determined in each group. Late gadolinium enhancement (LGE) was assessed in all cases.
There were 38 DMD-FC (mean age 39.1 ± 8.8 years) and 22 healthy volunteers (mean age 39.9 ± 12.6 years) imagined by CMR. The mean global native T 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 mean global ECV value was also similar between the groups (27.92 ± 2.02% vs. 27.10 ± 2.89%; p-value = 0.20). The segmental analysis of mean ECV values according to the American Heart Association classification did not show any differences between DMD-FC and CG. There was a non-significant trend towards higher mean ECV values of DMD-FC in the inferior and inferolateral segments of the myocardium (p-value = 0.075 and 0.070 respectively).
There were no statistically significant differences in the mean global and segmental native T relaxation times and the mean global or segmental ECV values. There was a trend towards higher segmental mean ECV values of DMD-FC in the inferior and inferolateral walls of the myocardium.
肌营养不良蛋白基因突变的女性携带者（DMD-FC）以前被认为是非表现型的，但在最近几十年，与肌肉营养不良相关的心肌病和心肌纤维化已被描述。我们的研究旨在使用心血管磁共振（CMR）成像的原生 T 映射和细胞外体积（ECV）定量，前瞻性地评估无症状 DMD-FC 与具有相似年龄分布的性别匹配对照组（CG）的心肌纤维化。
38 名经基因验证突变的 DMD-FC 和 22 名健康志愿者被纳入研究。在每组中，使用 CMR 确定原生 T 弛豫时间和 ECV 定量。在所有病例中评估晚期钆增强（LGE）。
38 名 DMD-FC（平均年龄 39.1±8.8 岁）和 22 名健康志愿者（平均年龄 39.9±12.6 岁）接受了 CMR 成像。DMD-FC 和 CG 的平均整体原生 T 弛豫时间相似（1005.1±26.3 ms 与 1003.5±25.0 ms；p 值=0.81）。同样，两组的平均整体 ECV 值也相似（27.92±2.02%与 27.10±2.89%；p 值=0.20）。根据美国心脏协会分类的平均 ECV 值的节段分析显示，DMD-FC 和 CG 之间没有差异。DMD-FC 的下壁和下侧壁心肌的平均 ECV 值有升高的非显著趋势（p 值分别为 0.075 和 0.070）。
平均整体和节段性原生 T 弛豫时间以及平均整体或节段性 ECV 值没有统计学差异。DMD-FC 的下壁和下侧壁心肌节段性平均 ECV 值有升高的趋势。
