抗肌萎缩蛋白病患者心脏损伤的诊断和治疗进展

doi:10.3969/j.issn.1006-9771.2017.03.013

摘要/Abstract

摘要： 抗肌萎缩蛋白病是一组致死性X染色体隐性遗传病。随着呼吸机等技术的应用,抗肌萎缩蛋白病患者的主要死亡原因从呼吸衰竭转变为循环衰竭,心脏问题的重要性日益突显。心肌损伤的诊断主要依靠心肌酶、心电图、超声心动图、心脏磁共振成像,治疗主要为抗慢性心衰药物,心脏移植以及左室支持装置植入术可能是终末期选择。

关键词: 抗肌萎缩蛋白病, 肌营养不良, 心肌病, 诊断, 治疗, 综述

Abstract: Dystrophinopathies are a group of fatal X chromosome recessive genetic disease. With the application of ventilator technology, the main causes of death in patients with dystrophinopathies turned from respiratory failure into circulatory failure, and the importance of heart problems has become increasingly prominent. Myocardial damage can be defined with myocardial enzymes, electrocardiogram, ultrasound cardiogram, cardiac magnetic resonance imaging, etc. Drugs for chronic heart failure remain the most important strategy, and heart transplant or left ventricular assist devices implant may be the alternatives for those in the end.

Key words: dystrophinopath, muscular dystrophy, cardiomyopathy, diagnosis, treatment, review

中图分类号:

R746.2

罗思琦, 吴士文. 抗肌萎缩蛋白病患者心脏损伤的诊断和治疗进展[J]. 《中国康复理论与实践》, 2017, 23(3): 311-314.

LUO Si-qi, WU Shi-wen. Diagnosis and Treatment of Cardiac Involvement in Dystrophinopathies (review)[J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2017, 23(3): 311-314.

参考文献

[1] Birnkrant DJ, Ararat E, Mhanna MJ. Cardiac phenotype determines survival in Duchenne muscular dystrophy [J]. Pediatr Pulmonol, 2016, 51(1): 70-76.
[2] Mah JK, Korngut L, Dykeman J, et al. A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy [J]. Neuromuscul Disord, 2014, 24(6): 482-491.
[3] Nigro G, Comi LI, Politano L, et al. The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy [J]. Int J Cardiol, 1990, 26(3): 271-277.
[4] Viollet L, Thrush PT, Flanigan KM, et al. Effects of angiotensin-converting enzyme inhibitors and/or beta blockers on the cardiomyopathy in Duchenne muscular dystrophy [J]. Am J Cardiol, 2012, 110(1): 98-102.
[5] Spurney C, Shimizu R, Morgenroth LP, et al. Cooperative International Neuromuscular Research Group Duchenne Natural History Study demonstrates insufficient diagnosis and treatment of cardiomyopathy in Duchenne muscular dystrophy [J]. Muscle Nerve, 2014, 50(2): 250-256.
[6] Ho R, Nguyen ML, Mather P. Cardiomyopathy in Becker muscular dystrophy: Overview [J]. World J Cardiol, 2016, 8(6): 356-361.
[7] Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care [J]. Lancet Neurol, 2010, 9(2): 177-189.
[8] Hoogerwaard EM, van der Wouw PA, Wilde AA, et al. Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy [J]. Neuromuscul Disord, 1999, 9(5): 347-351.
[9] Hoogerwaard EM, Bakker E, Ippel PF, et al. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study [J]. Lancet, 1999, 353(353): 2116-2119.
[10] Florian AR, Ludwig A, Rösch S, et al. Differences in cardiac involvement between carriers of Duchenne and Becker muscular dystrophy–a cardiovascular magnetic resonance study [J]. J Cardiovasc Magn Reson, 2015, 17(1): 1-2.
[11] Nakamura A. X-Linked dilated cardiomyopathy: a cardiospecific phenotype of dystrophinopathy [J]. Pharmaceuticals (Basel), 2015, 8(2): 303-320.
[12] Berko BA, Swift M. X-linked dilated cardiomyopathy [J]. N Engl J Med, 1987, 316(19): 1186-1191.
[13] Towbin JA, Hejtmancik JF, Brink P, et al. X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus [J]. Circulation, 1993, 87(6): 1854-1865.
[14] Castro-Gago M, Gómez-Lado C, Eirís-Puñal J. Cardiac troponin I for accurate evaluation of cardiac status in myopathic patients [J]. Brain Dev, 2009, 31(2): 184.
[15] 田淑芬. 假性肥大型肌营养不良儿童血清脑利钠肽水平与心脏功能的相关性[J]. 武汉大学学报(医学版), 2011, 32(2): 219-221.
[16] Mohyuddin T, Jacobs IB, Bahler RC. B-type natriuretic peptide and cardiac dysfunction in Duchenne muscular dystrophy [J]. Int J Cardiol, 2007, 119(3): 389-391.
[17] Thrush PT, Edward N, Flanigan KM, et al. Precordial R wave height does not correlate with echocardiographic findings in boys with Duchenne muscular dystrophy [J]. Congenit Heart Dis, 2013, 8(6): 561-567.
[18] Chiang DY, Allen HD, Kim JJ, et al. Relation of cardiac dysfunction to rhythm abnormalities in patients with Duchenne or Becker muscular dystrophies [J]. Am J Cardiol, 2016, 117(8): 1349-1354.
[19] Villa CR, Czosek RJ, Ahmed H, et al. Ambulatory monitoring and arrhythmic outcomes in pediatric and adolescent patients with Duchenne muscular dystrophy [J]. J Am Heart Assoc, 2015, 5(1): e002620.
[20] Ashwath ML, Jacobs IB, Crowe CA, et al. Left ventricular dysfunction in Duchenne muscular dystrophy and genotype [J]. Am J Cardiol, 2014, 114(2): 284-289.
[21] Yamamoto T, Tanaka H, Matsumoto K, et al. Utility of transmural myocardial strain profile for prediction of early left ventricular dysfunction in patients with Duchenne muscular dystrophy [J]. Am J Cardiol, 2013, 111(6): 902-907.
[22] Mori K, Hayabuchi Y, Inoue M, et al. Myocardial strain imaging for early detection of cardiac involvement in patients with Duchenne's progressive muscular dystrophy [J]. Echocardiography, 2007, 24(6): 598-608.
[23] Takano H, Fujii Y, Yugeta N, et al. Assessment of left ventricular regional function in affected and carrier dogs with Duchenne muscular dystrophy using speckle tracking echocardiography [J]. BMC Cardiovasc Disord, 2011, 11: 23.
[24] Kansal MM, Panse PM, Abe H, et al. Relationship of contrast-enhanced magnetic resonance imaging-derived intramural scar distribution and speckle tracking echocardiography-derived left ventricular two-dimensional strains [J]. Eur Heart J Cardiovasc Imaging, 2012, 13(2): 152-158.
[25] Hickey RM, Cullen JD, Sachs GM. An overview of cardiac management in neuromuscular disease [J]. Open Cardiovasc Med J, 2016, 10: 82-88.
[26] Silva MC, Meira ZM, Gurgel GJ, et al. Myocardial delayed enhancement by magnetic resonance imaging in patients with muscular dystrophy [J]. J Am Coll Cardiol, 2007, 49(18): 1874-1879.
[27] 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.
[28] Yilmaz A, Gdynia HJ, Baccouche H, et al. Cardiac involvement in patients with Becker muscular dystrophy: new diagnostic and pathophysiological insights by a CMR approach [J]. J Cardiovasc Magn Reson, 2008, 10: 50.
[29] Hor KN, Taylor MD, Al-Khalidi HR, et al. Prevalence and distribution of late gadolinium enhancement in a large population of patients with Duchenne muscular dystrophy: effect of age and left ventricular systolic function [J]. J Cardiovasc Magn Reson, 2013, 15: 107.
[30] 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.
[31] Duboc D, Meune C, Lerebours G, et al. Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy [J]. J Am Coll Cardiol, 2005, 45(6): 855-857.
[32] Allen HD, Flanigan KM, Thrush PT, et al. A randomized, double-blind trial of lisinopril and losartan for the treatment of cardiomyopathy in duchenne muscular dystrophy [J]. PLoS Curr, 2013, 5.pii: ecurrents.md.2cc69a1dae4be7dfe2bcb420024ea865.
[33] Shaddy RE, Boucek MM, Hsu DT, et al. Carvedilol for children and adolescents with heart failure: a randomized controlled trial [J]. JAMA, 2007, 298(10): 1171-1179.
[34] Raman SV, Hor KN, Mazur W, et al. Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: a randomised, double-blind, placebo-controlled trial [J]. Lancet Neurol, 2015, 14(2): 153-161.
[35] Escolar DM, Hache LP, Clemens PR, et al. Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy [J]. Neurology, 2011, 77(5): 444-452.
[36] Dec GW. Steroid therapy effectively delays Duchenne's cardiomyopathy [J]. J Am Coll Cardiol, 2013, 61(9): 955-956.
[37] Barber BJ, Andrews JG, Lu Z, et al. Oral corticosteroids and onset of cardiomyopathy in Duchenne muscular dystrophy [J]. J Pediatr, 2013, 163(4): 1080-1084.
[38] Schram G, Fournier A, Leduc H, et al. All-cause mortality and cardiovascular outcomes with prophylactic steroid therapy in Duchenne muscular dystrophy [J]. J Am Coll Cardiol, 2013, 61(9): 948-954.
[39] Goemans NM, Tulinius M, van den Akker JT, et al. Systemic administration of PRO051 in Duchenne's muscular dystrophy [J]. N Engl J Med, 2011, 364(16): 1513-1522.
[40] Jinek M, Chylinski K, Fonfara I, et al. A programmable dual-RNA-guided DNA endonuclease in adaptive bacterial immunity [J]. Science, 2012, 337(6096): 816-821.
[41] Cong L, Ran FA, Cox D, et al. Multiplex genome engineering using CRISPR/Cas systems [J]. Science, 2013, 339(6121): 819-823.
[42] Nelson CE, Hakim CH, Ousterout DG, et al. In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy [J]. Science, 2016, 351(6271): 403-407.
[43] Wu RS, Gupta S, Brown RN, et al. Clinical outcomes after cardiac transplantation in muscular dystrophy patients [J]. J Heart Lung Transplant, 2010, 29(4): 432-438.