Starc James J, Moore Ryan A, Rattan Mantosh S, Villa Chet R, Gao Zhiqian, Mazur Wojciech, Jefferies John L, Taylor Michael D
Division of Pediatric Cardiology, Mount Sinai Medical Center, One Gustave L. Levy Place, Post Box 1201, New York, NY, 10029, USA.
The Heart Institute, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave, Cincinnati, OH, 45229, USA.
Pediatr Cardiol. 2017 Oct;38(7):1485-1492. doi: 10.1007/s00246-017-1690-x. Epub 2017 Jul 31.
Duchenne muscular dystrophy (DMD) is a genetic, X-linked recessive disease with an associated cardiomyopathy characterized by myocardial fibrosis leading to heart failure, arrhythmias, and death. Earlier detection and treatment of cardiac involvement in DMD hold potential to improve outcomes. Cardiovascular magnetic resonance (CMR) extracellular volume (ECV) quantification using T1 mapping is a histologically validated, non-invasive marker of diffuse fibrosis. This study aims to determine the ECV in a pediatric DMD population, and correlate it with metrics of left ventricular function. A retrospective review of pediatric DMD subjects who underwent CMR at a single institution. A total of 47 DMD patients (mean age 14 ± 2 years) were included for analysis. Global myocardial ECV was significantly higher in the DMD group (29 ± 6%) compared with published normal values (24 ± 2%, p = 0.0001). Higher ECV values correlate with indices of left ventricular function, including decreased left ventricular ejection fraction (r = -0.46, p = 0.001) and indexed left ventricular end diastolic volume (r = 0.41, p = 0.004). ECV was not significantly higher in DMD patients with late gadolinium enhancement (LGE) (30 ± 7%) compared to DMD patients without LGE (27 ± 5%, p = 0.0717). CMR T1 mapping is a feasible method for quantification of ECV in patients with DMD. Global myocardial ECV is significantly higher in the DMD population compared to healthy controls and correlates with other metrics of myocardial function. Global myocardial ECV may serve as an important tool to determine cardiac involvement in DMD population and help guide medical management.
杜氏肌营养不良症（DMD）是一种遗传性X连锁隐性疾病，伴有心肌病，其特征是心肌纤维化，可导致心力衰竭、心律失常和死亡。早期发现并治疗DMD患者的心脏受累情况有可能改善预后。使用T1映射的心血管磁共振（CMR）细胞外容积（ECV）定量是一种经组织学验证的弥漫性纤维化无创标志物。本研究旨在确定儿科DMD人群的ECV，并将其与左心室功能指标相关联。对在单一机构接受CMR检查的儿科DMD受试者进行回顾性研究。共纳入47例DMD患者（平均年龄14±2岁）进行分析。DMD组的整体心肌ECV（29±6%）显著高于已公布的正常数值（24±2%，p = 0.0001）。较高的ECV值与左心室功能指标相关，包括左心室射血分数降低（r = -0.46，p = 0.001）和左心室舒张末期容积指数（r = 0.41，p = 0.004）。与无延迟钆增强（LGE）的DMD患者相比，有LGE的DMD患者的ECV并未显著升高（30±7% vs 27±5%，p = 0.0717）。CMR T1映射是定量DMD患者ECV的一种可行方法。与健康对照相比，DMD人群的整体心肌ECV显著更高，且与心肌功能的其他指标相关。整体心肌ECV可能是确定DMD人群心脏受累情况并帮助指导医疗管理的重要工具。
