收稿日期: 2021-03-20
网络出版日期: 2022-06-28
基金资助
上海市静安区卫生和计划生育委员会医学科研课题(2016MS04)
Evaluation of myocardial fibrosis by cardiac magnetic resonance imaging in patient with myotonic dystrophy type 1
Received date: 2021-03-20
Online published: 2022-06-28
目的：对强直性肌营养不良1型（myotonic dystrophy type 1,DM1）患者进行心脏磁共振（cardiac magnetic resonance,CMR）检查,观察其心肌纤维化的发生情况,分析CMR及心电图检查在DM1患者心脏风险评估中的价值。 方法：收集14例经基因明确诊断的DM1患者,予同期行CMR、心电图、动态心电图检查。根据其心电图或动态心电图是否发现异常,将患者分为心电图正常组和心电图异常组,以CMR检查中观察到钆剂延迟强化（late gadolinium enhancement,LGE）作为诊断标准,判断其是否存在心肌纤维化,并比较心电图正常组与异常组间的心肌纤维化发生情况。 结果：14例DM1患者经CMR检查,其中有5例被检出心肌纤维化,检出率为5/14。与无心肌纤维化的患者相比,存在心肌纤维化的DM1患者的左心室质量指数[（47.1±5.4） g/m2比（40.2±3.4） g/m2,P=0.012]、左室收缩末期容积指数[（31.L5±5.5) mL/m2比（25.8±2.8） mL/m2,P=0.024]、左房容积指数[（43.8±7.1）mL/m2比（34.3±7.4） mL/m2,P=0.037]均较高,而左室射血分数（52.2%±11.1%比63.9%±5.3%,P=0.019）较低,心功能明显下降。心电图正常组（5例）与异常组（9例）间比较, CMR检出异常率差异有统计学意义（7/9比1/5,P=0.036）,但心肌纤维化发生率差异无统计学意义（4/9比1/5,P=0.36）。 结论：DM1可累及心肌导致心肌纤维化,且常规心电图筛查结果正常的患者并不能完全排除心肌纤维化,需要加行CMR检查以明确其是否存在心肌纤维化。
黄少华, 梁宗辉, 童欢, 管雪妮, 郭瑛, 张雁, 曹宾, 孙育民 . 心脏磁共振评估强直性肌营养不良1型患者心肌纤维化的临床价值[J]. 诊断学理论与实践, 2021 , 20(04) : 362 -367 . DOI: 10.16150/j.1671-2870.2021.04.006
Objective: To evaluate myocardial fibrosis by cardiac magnetic resonance (CMR) in the patients with myo-tonic dystrophy type 1 (DM1), and compare the value of CMR and ECG. Methods: A total of 14 patients with genetically conformed DM1 were included, and were performed CMR, electrocardiogram and dynamic electrocardiogram. Myocardial fibrosis was defined as presence of late gadolinium enhancement (LGE) in CMR. According to the results of ECG and/or dynamic ECG, the patients with DM1 were divided into normal ECG and abnormal ECG groups, and the CMR results were compared between two groups. Results: CMR examination showed that the detection rate of myocardial fibrosis in DM1 patients was 35.7% (5 out of 14). Compared with those without myocardial fibrosis, the patients with myocardial fibrosis had higher left ventricular mass index [(47.1±5.4) g/m2 vs. (40.2±3.4) g/m2, P=0.012)], left ventricular end-systolic volume index [(31.5±5.5) mL/m2 vs. (25.8±2.8) mL/m2, P=0.024)], and left atrial volume index [(43.8±7.1) mL/m2 vs. (34.3±7.4) mL/m2, P=0.037), while had lower left ventricular ejection fraction [(52.2±11.1)% vs. (63.9±5.3)%, P=0.019]. There was no correlation between the existence of myocardial fibrosis and the abnormal finding of ECG (44.4% vs. 20.0%, P=0.36) in the patients with DM1, while the other abnormal incidence detected by CMR was higher in abnormal ECG group than in normal ECG group (77.8% vs. 20.0%, P=0.036). Conclusions: Myocardial fibrosis occurs in some patients with DM1. For the patients with DM1, ECG screening fails to predict myocardial fibrosis, while CMR is valuable. Routine cardiac assessments for DM1 patients should include both CMR and ECG.
| [1] | 王新德. 神经病学:肌肉疾病[M]. 北京: 人民军医出版社, 2007:16-637. |
| [2] | Turner C, Hilton-Jones D. The myotonic dystrophies: dia-gnosis and management[J]. J Neurol Neurosurg Psychiatry, 2010,81(4):358-367. |
| [3] | Brook JD, McCurrach ME, Harley HG, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member[J]. Cell, 1992,69(2):385. |
| [4] | Hermans MC, Pinto YM, Merkies IS, et al. Hereditary muscular dystrophies and the heart[J]. Neuromuscul Di-sord, 2010,20(8):479-492. |
| [5] | Chaudhry SP, Frishman WH. Myotonic dystrophies and the heart[J]. Cardiol Rev, 2012,20(1):1-3. |
| [6] | Kawel-Boehm N, Maceira A, Valsangiacomo-Buechel ER, et al. Normal values for cardiovascular magnetic resonance in adults and children[J]. J Cardiovasc Magn Reson, 2015,17(1):29. |
| [7] | Verhaert D, Richards K, Rafael-Fortney JA, et al. Cardiac involvement in patients with muscular dystrophies: magnetic resonance imaging phenotype and genotypic considerations[J]. Circ Cardiovasc Imaging, 2011,4(1):67-76. |
| [8] | Turkbey EB, Gai N, Lima JA, et al. Assessment of cardiac involvement in myotonic muscular dystrophy by T1 mapping on magnetic resonance imaging[J]. Heart Rhythm, 2012,9(10):1691-1697. |
| [9] | Choudhary P, Nandakumar R, Greig H, et al. Structural and electrical cardiac abnormalities are prevalent in asymptomatic adults with myotonic dystrophy[J]. Heart, 2016,102(18):1472-1478. |
| [10] | Luetkens JA, von Landenberg C, Isaak A, et al. Comprehensive cardiac magnetic resonance for assessment of cardiac involvement in myotonic muscular dystrophy type 1 and 2 without known cardiovascular disease[J]. Circ Cardiovasc Imaging, 2019,12(6):e009100. |
| [11] | Petri H, Ahtarovski KA, Vejlstrup N, et al. Myocardial fibrosis in patients with myotonic dystrophy type 1: a cardiovascular magnetic resonance study[J]. J Cardiovasc Magn Reson, 2014,16(1):59. |
| [12] | Cardona A, Arnold WD, Kissel JT, et al. Myocardial fibrosis by late gadolinium enhancement cardiovascular magnetic resonance in myotonic muscular dystrophy type 1: highly prevalent but not associated with surface conduction abnormality[J]. J Cardiovasc Magn Reson, 2019,21(1):26. |
| [13] | Hermans MC, Faber CG, Bekkers SC, et al. Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance study[J]. J Cardiovasc Magn Reson, 2012,14(1):48. |
| [14] | de Ambroggi L, Raisaro A, Marchianó V, et al. Cardiac involvement in patients with myotonic dystrophy: characteristic features of magnetic resonance imaging[J]. Eur Heart J, 1995,16(7):1007-1010. |
| [15] | Nazarian S, Bluemke DA, Wagner KR, et al. QRS prolongation in myotonic muscular dystrophy and diffuse fibrosis on cardiac magnetic resonance[J]. Magn Reson Med, 2010,64(1):107-114. |
| [16] | Chmielewski L, Bietenbeck M, Patrascu A, et al. Non-invasive evaluation of the relationship between electrical and structural cardiac abnormalities in patients with myo-tonic dystrophy type 1[J]. Clin Res Cardiol, 2019,108(8):857-867. |
| [17] | Lau JK, Sy RW, Corbett A, et al. Myotonic dystrophy and the heart: a systematic review of evaluation and management[J]. Int J Cardiol, 2015,184:600-608. |
| [18] | Groh WJ, Groh MR, Saha C, et al. Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1[J]. N Engl J Med, 2008,358(25):2688-2697. |
| [19] | Segawa I, Suzuki T, Kato M, et al. Relation between myo-cardial histological changes and ventricular tachycardia in cardiomyopathy: a study by 24-hour ECG-monitoring and endomyocardial biopsy[J]. Heart Vessels Suppl, 1990,5:37-40. |
| [20] | Shiozaki AA, Senra T, Arteaga E, et al. Myocardial fibrosis detected by cardiac CT predicts ventricular fibrillation/ventricular tachycardia events in patients with hypertrophic cardiomyopathy[J]. J Cardiovasc Comput Tomogr, 2013,7(3):173-181. |
| [21] | Nguyen HH, Wolfe JT 3rd, Holmes DR Jr, et al. Pathology of the cardiac conduction system in myotonic dystrophy: a study of 12 cases[J]. J Am Coll Cardiol, 1988,11(3):662-671. |
/
| 〈 |
|
〉 |
