Lang Sean M, Shugh Svetlana, Mazur Wojciech, Sticka Joshua J, Rattan Mantosh S, Jefferies John L, Taylor Michael D
Arkansas Children's Hospital, University of Arkansas for Medical Sciences, 1 Children's Way, Little Rock, AR, USA.
The Heart Institute, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave, Cincinnati, OH, USA.
Pediatr Cardiol. 2015 Oct;36(7):1495-501. doi: 10.1007/s00246-015-1192-7. Epub 2015 May 16.
The goal of our study was to characterize the degree of myocardial fibrosis and left ventricular dysfunction in our cohort of Duchenne muscular dystrophy (DMD) carriers using cardiac magnetic resonance imaging (CMR). Seventy percent of males with DMD have mothers who are carriers of the Xp21 mutation. Carrier phenotypic characteristics range from asymptomatic to left ventricular (LV) dysfunction and cardiomyopathy. The true prevalence of cardiac involvement in DMD carriers is unknown. We performed a retrospective observational study. All female DMD carriers who underwent clinical CMR studies at Cincinnati Children's Hospital Medical Center from December 6, 2006, to August 28, 2013, were evaluated. Patients underwent standard CMR assessment with LV function assessment and late gadolinium enhancement (LGE). In addition, offline feature tracking strain analysis was performed on the basal, mid, and apical short axis. Twenty-two patients were studied, of which 20 underwent adequate testing for myocardial LGE. Four of 22 patients (18 %) were found to have LV dysfunction (ejection fraction <55 %). Seven of 20 DMD carriers (35 %) were found to have LGE. The patients with evidence of LGE had an overall trend to lower absolute deformation parameters; however, this did not meet statistical significance when correcting for multiple comparisons. Our study demonstrates a high rate of LGE as well as LV dysfunction in DMD carriers. Cardiovascular and musculoskeletal symptoms were not statistically different between those with and without cardiac involvement. This study demonstrates the importance of surveillance CMR evaluation of DMD carriers.
我们研究的目的是使用心脏磁共振成像（CMR）来描述杜氏肌营养不良症（DMD）携带者队列中心肌纤维化程度和左心室功能障碍情况。70%的DMD男性患者的母亲是Xp21突变的携带者。携带者的表型特征从无症状到左心室（LV）功能障碍和心肌病不等。DMD携带者心脏受累的真实患病率尚不清楚。我们进行了一项回顾性观察研究。对2006年12月6日至2013年8月28日在辛辛那提儿童医院医疗中心接受临床CMR研究的所有女性DMD携带者进行了评估。患者接受了包括左心室功能评估和延迟钆增强（LGE）的标准CMR评估。此外，还对基底、中间和心尖短轴进行了离线特征跟踪应变分析。共研究了22名患者，其中20名接受了心肌LGE的充分检测。22名患者中有4名（18%）被发现有左心室功能障碍（射血分数<55%）。20名DMD携带者中有7名（35%）被发现有LGE。有LGE证据的患者总体上有绝对变形参数降低的趋势；然而，在进行多重比较校正后，这未达到统计学意义。我们的研究表明DMD携带者中LGE和左心室功能障碍的发生率很高。有心脏受累和无心脏受累的患者在心血管和肌肉骨骼症状方面无统计学差异。这项研究证明了对DMD携带者进行监测CMR评估的重要性。
