Nationwide Children's Hospital, Columbus, OH, USA.
Parent Project Muscular Dystrophy, Hackensack, NJ, USA.
J Neuromuscul Dis. 2017;4(4):307-314. doi: 10.3233/JND-170253.
Improved neuromuscular and respiratory therapies have altered the natural history of Duchenne muscular dystrophy (DMD) such that the most common cause of mortality is progressive cardiomyopathy. Despite imaging evidence of progressive cardiomyopathy, troponin I (cTn) is not significantly elevated in asymptomatic DMD patients.
We describe eight boys with DMD evaluated for acute chest pain (ACP) and found to have acute cTn elevation with depressed left ventricular ejection fraction (LVEF). Of our eight patients, five presented with a primary complaint of ACP, while three presented with secondary myocardial injury in the context of systemic illness requiring hospitalization. Electrocardiograms showed diffuse ST changes and mean peak cTn level was 44±15.4 ng/mL (reference range <0.03 ng/mL). cTn levels normalized with only supportive care. Cardiac magnetic resonance imaging (CMR) was performed during the event on all but one patient, demonstrating increased late gadolinium enhancement (LGE) from 12.4±11.4% to 36.5±10.3% with associated deterioration of LVEF from 61±4.4% to 47.6±6.6% which remained depressed on follow-up CMR study (49.1±7.8%). All viral studies were negative. Additional investigations varied among patients, but no causative findings were demonstrated.
ACP with cTn elevation occurs in DMD boys and may be indicative of cardiomyopathy progression as evidenced by acute left ventricular dysfunction and development or progression of myocardial fibrosis. This clinical presentation is under recognized. These events may represent an important pathophysiological mechanism in cardiomyopathy progression.
神经肌肉和呼吸治疗的改善改变了杜氏肌营养不良症(DMD)的自然病程,使得最常见的死亡原因是进行性心肌病。尽管有影像学证据表明存在进行性心肌病,但无症状 DMD 患者的肌钙蛋白 I(cTn)并未显著升高。
我们描述了 8 例接受急性胸痛(ACP)评估的 DMD 男孩,发现急性 cTn 升高伴左心室射血分数(LVEF)降低。在我们的 8 例患者中,5 例以 ACP 为主要主诉就诊,3 例在需要住院治疗的全身疾病背景下发生继发性心肌损伤。心电图显示弥漫性 ST 改变,平均峰值 cTn 水平为 44±15.4ng/mL(参考范围 <0.03ng/mL)。cTn 水平仅通过支持性治疗即可恢复正常。除 1 例患者外,所有患者均在发病期间进行了心脏磁共振成像(CMR)检查,显示晚期钆增强(LGE)从 12.4±11.4%增加到 36.5±10.3%,同时 LVEF 从 61±4.4%下降到 47.6±6.6%,在后续 CMR 研究中仍保持降低(49.1±7.8%)。所有病毒研究均为阴性。其他检查在患者之间各不相同,但未发现病因。
DMD 男孩出现 ACP 和 cTn 升高可能表明心肌病进展,表现为急性左心室功能障碍和心肌纤维化的发生或进展。这种临床表现认识不足。这些事件可能代表了心肌病进展中重要的病理生理机制。