Nationwide Children's Hospital, Columbus, OH, USA.
J Cardiovasc Magn Reson. 2013 Dec 21;15(1):107. doi: 10.1186/1532-429X-15-107.
Duchenne muscular dystrophy (DMD), an X-linked disorder affects approximately 1 in 5000 males, is universally associated with heart disease. We previously identified myocardial disease by late gadolinium enhancement (LGE) in DMD subjects at various stages of disease, but the true prevalence is unclear. Cardiovascular magnetic resonance (CMR) is well established for both assessment of ventricular function and myocardial fibrosis by LGE. We sought to establish i) prevalence and distribution of LGE in a large DMD population and ii) relationship among LGE, age, LVEF by CMR and current living status.
Current living status, demographic and CMR data including ventricular volumes, LVEF and LGE from 314 DMD patients undergoing evaluation at a single large tertiary referral center were analyzed.
113 of 314 (36%) of DMD subjects showed LGE positivity with prevalence increasing from 17% of patients <10 years to 34% of those aged 10-15 years and 59% of those >15 years-old. Patients with LVEF ≥55% were LGE positive in 30% of cases; this increased to 84% for LVEF <55%. LGE was more prevalent in the free wall (531/1243, 42.7%) vs. septal segments (30/565, 5.3%). Patients with septal involvement were significantly older and had lower LVEF than those with isolated free wall LGE. Ten percent (11/113) patients who had LGE died 10.8 months after CMR. Only one patient from the LGE negative group died. Patients who died had higher heart rate, larger left ventricular volume and mass, greater number of positive LGE segment and increase incident of septal LGE compared to those who remained alive.
In DMD patients, LGE occurs early, is progressive and increases with both age and decreasing LVEF. Segmentally, the incidence of the number of positive LGE segments increase with age and lower LVEF. Older patients and those who died during the study period had more septal LGE involvement. The current studies suggest that the time course and distribution of LGE-positivity may be an important clinical biomarker to aid in the management of DMD-associated cardiac disease.
杜氏肌营养不良症（DMD）是一种 X 连锁疾病，影响大约每 5000 名男性中的 1 名，普遍与心脏病有关。我们之前通过对不同疾病阶段的 DMD 患者进行晚期钆增强（LGE）检测，发现了心肌疾病。但真正的患病率尚不清楚。心血管磁共振（CMR）已被广泛用于评估心室功能和通过 LGE 评估心肌纤维化。我们旨在确定：i）在大型 DMD 人群中 LGE 的患病率和分布情况，ii）LGE、年龄、CMR 的 LVEF 和当前生活状况之间的关系。
对在单一大型三级转诊中心接受评估的 314 名 DMD 患者的当前生活状况、人口统计学和 CMR 数据（包括心室容积、LVEF 和 LGE）进行了分析。
314 名 DMD 患者中有 113 名（36%）的患者 LGE 呈阳性，其患病率从 10 岁以下患者的 17%增加到 10-15 岁患者的 34%和 15 岁以上患者的 59%。LVEF≥55%的患者中有 30%的患者出现 LGE 阳性，而 LVEF<55%的患者则有 84%的患者出现 LGE 阳性。LGE 在游离壁（531/1243，42.7%）比间隔段（30/565，5.3%）更常见。有间隔受累的患者明显比单纯游离壁 LGE 患者年龄更大，LVEF 更低。10%（11/113）的有 LGE 的患者在 CMR 后 10.8 个月死亡。而在 LGE 阴性组中只有 1 名患者死亡。与仍存活的患者相比，死亡患者的心率更高，左心室容积和质量更大，阳性 LGE 节段数更多，并且发生间隔 LGE 的几率增加。
在 DMD 患者中，LGE 发生较早，呈进行性发展，且随年龄和 LVEF 的降低而增加。节段性地，阳性 LGE 节段数量的发生率随年龄和较低的 LVEF 而增加。年龄较大的患者和在研究期间死亡的患者有更多的间隔 LGE 受累。目前的研究表明，LGE 阳性的时间进程和分布可能是辅助管理 DMD 相关心脏病的重要临床生物标志物。
