Paediatric Neurology Department, Starship Children's Hospital, Auckland, New Zealand; Paediatric Endocrinology Department, Starship Children's Hospital, Auckland, New Zealand; Liggins Institute, University of Auckland, Auckland, New Zealand.
Department of Exercise Sciences, University of Auckland, Auckland, New Zealand.
Pediatr Neurol. 2021 Apr;117:35-43. doi: 10.1016/j.pediatrneurol.2020.12.011. Epub 2020 Dec 30.
Duchenne muscular dystrophy is caused by mutations in the DMD gene, resulting in cardiomyopathy in all affected children by 18 years. Although cardiomyopathy is now the leading cause of mortality in these children, there is ongoing debate regarding timely diagnosis, secondary prevention, and treatment of this condition. The purpose of this study was to use exercise cardiac magnetic resonance imaging in asymptomatic young boys with Duchenne muscular dystrophy to describe their heart function and compare this with healthy controls.
We studied 11 boys with Duchenne muscular dystrophy aged 8.6 to 13.9 years and 11 healthy age- and sex-matched controls.
Compared with the controls, boys with Duchenne muscular dystrophy had lower ejection fraction at rest (57% versus 63%; P = 0.004). During submaximal exercise, they reached similar peak tachycardia but increased their heart rate and cardiac output only half as much as controls (P = 0.003 and P = 0.014, respectively). End-systolic volume remained higher in boys with Duchenne muscular dystrophy both at rest and during exercise. When transthoracic echocardiography was compared with cardiac magnetic resonance imaging, 45% of the echocardiograms had suboptimal or poor views in the Duchenne muscular dystrophy group.
Boys with Duchenne muscular dystrophy had abnormalities in left ventricular systolic function that were exaggerated by exercise stress. Exercise cardiac magnetic resonance imaging is feasible in a select population of children with Duchenne muscular dystrophy, and it has the potential to unmask early signs of cardiomyopathy.
杜氏肌营养不良症是由 DMD 基因突变引起的，所有受影响的儿童在 18 岁时都会发生心肌病。尽管心肌病现在是这些儿童死亡的主要原因，但对于这种疾病的及时诊断、二级预防和治疗仍存在争议。本研究的目的是使用无症状的年轻男性患有杜氏肌营养不良症的运动心脏磁共振成像来描述他们的心脏功能，并将其与健康对照组进行比较。
我们研究了 11 名年龄在 8.6 至 13.9 岁的患有杜氏肌营养不良症的男孩和 11 名年龄和性别匹配的健康对照组。
与对照组相比，患有杜氏肌营养不良症的男孩在静息时射血分数较低（57%对 63%；P=0.004）。在亚最大运动期间，他们达到了相似的峰值心动过速，但仅增加了一半的心率和心输出量（P=0.003 和 P=0.014）。收缩末期容积在静息和运动时均保持较高水平。当经胸超声心动图与心脏磁共振成像进行比较时，45%的超声心动图在杜氏肌营养不良症组中存在不理想或不佳的视图。
患有杜氏肌营养不良症的男孩左心室收缩功能异常，运动应激可使其恶化。运动心脏磁共振成像在选择的患有杜氏肌营养不良症的儿童中是可行的，它有可能揭示早期心肌病的迹象。
