Cardiac Management in Neuromuscular Diseases

Physical Medicine and Rehabilitation Clinics of North America

Volumn 23, Issue 4, 2012, Pages 855-868

  Allen, Hugh D ^a,b,c   Thrush, Philip T ^b   Hoffman, Timothy M ^a,b   Flanigan, Kevin M ^a,b,d   Mendell, Jerry R ^a,b,d  

^a THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

^b NATIONWIDE CHILDREN S HOSPITAL   (United States)

^c TEXAS CHILDREN S HOSPITAL   (United States)

^d Wellstone Muscular Dystrophy Cooperative Research Center   (United States)

Author keywords

Becker muscular dystrophy; Duchenne muscular dystrophy; Emery Dreifuss muscular dystrophy; Limb girdle muscular dystrophy; Myotonic muscular dystrophy

Indexed keywords

ANGIOTENSIN RECEPTOR ANTAGONIST; ATRIAL NATRIURETIC FACTOR ALPHA; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; BRAIN NATRIURETIC PEPTIDE; CARVEDILOL; DIGOXIN; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; EPLERENONE; FLECAINIDE; IDEBENONE; MILRINONE; SILDENAFIL; SOTALOL; SPIRONOLACTONE;

ARTIFICIAL HEART PACEMAKER; BECKER MUSCULAR DYSTROPHY; BRADYCARDIA; CARDIAC IMAGING; CARDIOMYOPATHY; CARDIOVASCULAR RISK; CLINICAL DECISION MAKING; CLINICAL FEATURE; CONGESTIVE CARDIOMYOPATHY; CONGESTIVE HEART FAILURE; DEFIBRILLATION; DISEASE ASSOCIATION; DOPPLER ECHOCARDIOGRAPHY; DUCHENNE MUSCULAR DYSTROPHY; EMERY DREIFUSS MUSCULAR DYSTROPHY; EXTRACORPOREAL OXYGENATION; FASCIOSCAPULAR MUSCULAR DYSTROPHY; FOLLOW UP; GENETIC ANALYSIS; HEART ATRIUM ARRHYTHMIA; HEART ATRIUM FIBRILLATION; HEART FAILURE; HEART LEFT VENTRICLE EJECTION TIME; HEART TRANSPLANTATION; HEART VENTRICLE ARRHYTHMIA; HEART VENTRICLE TACHYCARDIA; HOLTER MONITORING; HUMAN; LABORATORY DIAGNOSIS; LEFT VENTRICULAR ASSIST DEVICE; LEFT VENTRICULAR DIASTOLIC DYSFUNCTION; LIMB GIRDLE MUSCULAR DYSTROPHY; MEDICAL HISTORY; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; MYOTONIC DYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; POSITIVE END EXPIRATORY PRESSURE; PREVENTIVE MEDICINE; PRIORITY JOURNAL; REVIEW; TORSADE DES POINTES;

CARDIOMYOPATHIES; HUMANS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUSCULAR DYSTROPHY, DUCHENNE; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; MYOTONIC DYSTROPHY; NEUROMUSCULAR DISEASES;

EID: 84868382264     PISSN: 10479651     EISSN: 15581381     Source Type: Journal    
DOI: 10.1016/j.pmr.2012.08.001     Document Type: Review

References (69)

1. Allen H.D., Mendell J.R., Hoffman T.M. The Heart in muscular dystrophies. In: Allen HD, Driscoll DJ, Shaddy RE, et al, editors. Moss and Adams' heart disease in infants, children, and adolescents: including the fetus and young adult 2008, Wolters Kluwer/Lippincott Williams and Wilkins, Philadelphia. 7th edition.
2. Allen HD, Flanigan KM, Mendell JR, et al. The Heart in muscular dystrophies. In: Allen HD, Driscoll DJ, Shaddy RE, et al, editors. Moss and Adams' heart disease in infants, children, and adolescents: including the fetus and young adult. 8th edition. Philadelphia: Wolters Kluwer/Lippincott Williams and Wilkins, in press.
3. Frankel K.A., Rosser R.J. The pathology of the heart in progressive muscular dystrophy: epimyocardial fibrosis. Hum Pathol 1976, 7:375-386.
4. Moriuchi T., Kagawa N., Mukoyama M., et al. Autopsy analyses of the muscular dystrophies. Tokushima J Exp Med 1993, 40:83-93.
5. James T.N. Observations of the cardiovascular involvement, including the cardiac conduction system, in progressive muscular dystrophy. Am Heart J 1962, 63:48-56.
6. Hor K.N., Wanasapura J., Markham L.W., et al. Circumferential strain analysis identifies strata of cardiomyopathy in Duchenne muscular dystrophy. a cardiac magnetic resonance tagging study. J Am Coll Cardiol 2009, 53:1204-1210.
7. Puchalski M.D., Williams R.V., Askovich B., et al. Late gadolinium enhancement: precursor to cardiomyopathy in Duchenne muscular dystrophy?. Int J Cardiovasc Imaging 2009, 25:57-63.
8. Kaspar R.W., Allen H.D., Ray W.C., et al. Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in Becker muscular dystrophy. Circ Cardiovasc Genet 2009, 2(6):544-551.
9. Shah A.M., Jefferies J.L., Rossano J.W., et al. Electrocardiographic abnormalities and arrhythmias are strongly associated with the development of cardiomyopathy in muscular dystrophy. Heart Rhythm 2010, 7:1484-1488.
10. Perloff J.K., Roberts W.C., deLeon A.C. The distinctive electrocardiogram of Duchenne's progressive muscular dystrophy. An electrocardiographic-pathologic correlative study. Am J Med 1967, 42:179-188.
11. Manning G.W., Cropp G.J. The electrocardiogram in progressive muscular dystrophy. Br Heart J 1958, 20:416.
12. Perloff J.K. Cardiac rhythm and conduction in Duchenne's muscular dystrophy: a prospective study of 20 patients. J Am Coll Cardiol 1984, 3:1263-1268.
13. Bhattacharyya K.B., Basu N., Ray T.N., et al. Profile of electrocardiographic changes in Duchenne muscular dystrophy. J Indian Med Assoc 1997, 95:40-42. 47.
14. Thrush P.T., Allen H.D., Viollet L., et al. Re-examination of the electrocardiogram in boys with Duchenne muscular dystrophy and correlation with its dilated cardiomyopathy. Am J Cardiol 2009, 103:262-265.
15. Lanza G.A., Dello Russo A., Giglio V., et al. Impairment of cardiac autonomic function in patients with Duchenne muscular dystrophy: relationship to myocardial and respiratory function. Am Heart J 2001, 141:808-812.
16. Kirschmann C., Kececioglu D., Korinthenberg R., et al. Echocardiographic and electrocardiographic findings of cardiomyopathy in Duchenne and Becker-Kiener muscular dystrophies. Pediatr Cardiol 2005, 26:66-72.
17. Vita G., DiLeo R., DeGregorio C., et al. Cardiovascular autonomic control in Becker muscular dystrophy. J Neurol Sci 2001, 186:45-49.
18. Akita H., Matsuoka S., Kuroda Y. Predictive electrocardiographic score for evaluating prognosis in patients with Duchenne's muscular dystrophy. Tokushima J Exp Med 1993, 40:55-60.
19. Chenard A.A., Becane H.M., Tertrain F., et al. Ventricular arrhythmia in Duchenne muscular dystrophy: prevalence, significance and prognosis. Neuromuscul Disord 1993, 3:201-206.
20. Corrado G., Lissoni A., Beretta S., et al. Prognostic value of electrocardiograms, ventricular late potentials, ventricular arrhythmias, and left ventricular systolic dysfunction in patients with Duchenne muscular dystrophy. Am J Cardiol 2002, 89:838-841.
21. Goldberg S.J., Feldman L., Reinecke C., et al. Echocardiographic determination of contraction and relaxation measurements of the left ventricular wall in normal subjects and patients with muscular dystrophy. Circulation 1980, 62:1061-1069.
22. Hunsaker R.H., Fulkerson P.K., Barry F.J., et al. Cardiac function in Duchenne's muscular dystrophy. Results of a 10-year follow-up study and noninvasive tests. Am J Med 1982, 73:235-238.
23. Goldberg S.J., Stern L.Z., Feldman L., et al. Serial two-dimensional echocardiography in Duchenne muscular dystrophy. Neurology 1982, 32:1101-1105.
24. Goldberg S.J., Stern L.Z., Feldman L., et al. Serial left ventricular wall measurements in Duchenne's muscular dystrophy. J Am Coll Cardiol 1983, 2:136-142.
25. Taneanaka A., Yokota M., Iwase M., et al. Discrepancy between systolic and diastolic dysfunction of the left ventricle in patients with Duchenne muscular dystrophy. Eur Heart J 1993, 14:669-676.
26. Sasaki K., Sakata K., Kachi E., et al. Sequential changes in cardiac structure and function in patients with Duchenne type muscular dystrophy: a two-dimensional echocardiographic study. Am Heart J 1998, 135:937-944.
27. Mori K., Edagawa T., Inoue M., et al. Peak negative myocardial velocity gradient and wall-thickening velocity during early diastole are noninvasive parameters of left ventricular diastolic function in patients with Duchenne's progressive muscular dystrophy. J Am Soc Echocardiogr 2004, 17:322-329.
28. 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. Echocardiography 2007, 6:598-608.
29. Bosser G., Lucron H., Lethor J.P., et al. Evidence of early impairments in both right and left ventricular inotropic reserves in children with Duchenne's muscular dystrophy. Am J Cardiol 2004, 93:724-727.
30. Tani L.Y., Minich L.L., Williams R.V., et al. Ventricular remodeling in children with left ventricular dysfunction secondary to various cardiomyopathies. Am J Cardiol 2005, 96:1157-1161.
31. Yanagisawa A., Yokota N., Miyagawa M., et al. Plasma levels of atrial natriuretic peptide in patients with Duchenne's progressive muscular dystrophy. Am Heart J 1990, 120:1154-1158.
32. Mori K., Manabe T., Nii M., et al. Plasma levels of natriuretic peptide and echocardiographic parameters in patients with Duchenne's progressive muscular dystrophy. Pediatr Cardiol 2002, 23:160-166.
33. 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 Am Coll Cardiol 2005, 45:855-857.
34. Jefferies J.L., Eidem B.W., Belmont J.W., et al. Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy. Circulation 2005, 112:2799-2804.
35. Naruse H., Miyagi J., Arii T., et al. The relationship between clinical stage, prognosis and myocardial damage in patients with Duchenne-type muscular dystrophy: five-year follow-up study. Ann Nucl Med 2004, 18:203-208.
36. Stöllberger C., Finsterer J. Can perindopril delay the onset of heart failure in Duchenne muscular dystrophy?. J Am Coll Cardiol 2005, 46:1781.
37. Viollet L., Thrush P.T., Flanigan K.M., et al. Effects of angiotensin-converting enzyme inhibitors and/or β-blockers on the cardiomyopathy in Duchenne muscular dystrophy. Am J Cardiol 2012, 110(1):98-102.
38. Duboc D., Meune C., Pierre B., et al. Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up. Am Heart J 2007, 154:596-602.
39. Rafael-Fortney J.A., Chimanji N.S., Schill K.E., et al. Early treatment with lisinopril and spironolactone preserves cardiac and skeletal muscle in Duchenne muscular dystrophy mice. Circulation 2011, 124:582-588.
40. Cripe L.H., Barber B.J., Spicer R.L., et al. Outpatient continuous inotrope infusion as an adjunct to heart failure therapy in Duchenne muscular dystrophy. Neuromuscul Disord 2006, 16:745-748.
41. Buyse G.M., Goemans N., van den Hauwe M., et al. Idebenone as a novel, therapeutic approach for Duchenne muscular dystrophy: results from a 12 month, double-blind, randomized placebo-controlled trial. Neuromuscul Disord 2011, 21:396-405.
42. Breucking E., Reimnitz P., Schara U., et al. Anesthetic complications. The incidence of severe anesthetic complications in patients and families with progressive muscular dystrophy of the Duchenne and Becker types. Anaesthesist 2000, 49:187-195. [in German].
43. American Academy of Pediatrics Section on Cardiology and Cardiac Surgery Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. Pediatrics 2005, 116:1569-1573.
44. Sabovic M., Medica I., Logar N., et al. Relation of CTG expansion and clinical variables to electrocardiogram conduction abnormalities and sudden death in patients with myotonic dystrophy. Neuromuscul Disord 2003, 13:822-826.
45. Schara U., Schosser B.G. Myotonic dystrophies type 1 & 2: a summary on current aspects. Semin Pediatr Neurol 2006, 13:71-79.
46. Machuca-Tzili L., Brook D., Hilton-Jones D. Clinical and molecular aspects of the myotonic dystrophies: a review. Muscle Nerve 2005, 32:1-18.
47. Steinert H. Uber das klinische und anatomische bild des muskelschwundes der myotoniker. Deutsche Ztschr Nervenh 1909, 37:38-104. [in German].
48. Perloff J.K., Stevenson W.G., Roberts N.K., et al. Cardiac involvement in myotonic muscular dystrophy (Steinert's disease): a prospective study of 25 patients. Am J Cardiol 1984, 54:1074-1081.
49. Finsterer J., Stöllberger C., Blazek G., et al. Cardiac involvement in myotonic dystrophy, Becker muscular dystrophy and mitochondrial myopathy: a five-year follow-up. Can J Cardiol 2001, 17:1061-1069.
50. Badano L., Autore C., Fragola P.V., et al. Left ventricular myocardial function in myotonic dystrophy. Am J Cardiol 1993, 71:987-991.
51. Vignaux O., Lazarus A., Varin J., et al. Right ventricular MR abnormalities in myotonic dystrophy and relationship with intracardiac electrophysiologic test findings: initial results. Radiology 2002, 224:231-235.
52. Colleran J.A., Hawley R.J., Pinnow E.E., et al. Value of the electrocardiogram in determining cardiac events and mortality in myotonic dystrophy. Am J Cardiol 1997, 80:1494-1497.
53. Emery A.E., Dreifuss F.E. Unusual type of benign X-linked muscular dystrophy. J Neurol Neurosurg Psychiatry 1966, 29:338-342.
54. Buckley A.E., Dean J., Mahy I.R. Cardiac involvement in Emery Dreifuss muscular dystrophy: a case series. Heart 1999, 82:105-108.
55. Boriani G., Gallina M., Merlini L., et al. Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study. Stroke 2003, 34:901-908.
56. Becane H.M., Bonne G., Varnous S., et al. High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation. Pacing Clin Electrophysiol 2000, 23:1661-1666.
57. Bonne G., Mercuri E., Muchir A., et al. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol 2000, 48:170-180.
58. Jakobs P.M., Hanson E.L., Crispell K.A., et al. Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. J Card Fail 2001, 7:249-256.
59. Sanna T., Dello Russo A., Toniolo D., et al. Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. Eur Heart J 2003, 24:2227-2236.
60. Bialer M.G., McDaniel N.L., Kelly T.E. Progression of cardiac disease in Emery-Dreifuss muscular dystrophy. Clin Cardiol 1991, 14:411-416.
61. Yoshioka M., Saida K., Itagaki Y., et al. Follow up study of cardiac involvement in Emery-Dreifuss muscular dystrophy. Arch Dis Child 1989, 64:713-715.
62. Beckmann J.S., Bushby K. Advances in the molecular genetics of the limb-girdle type of autosomal recessive progressive muscular dystrophy. Curr Opin Neurol 1996, 9:389-393.
63. Melacini P., Fanin M., Duggan D.J., et al. Heart involvement in muscular dystrophies due to sarcoglycan gene mutations. Muscle Nerve 1999, 22:473-479.
64. Duggan D.J., Gorospe J.R., Fanin M., et al. Mutations in the sarcoglycan genes in patients with myopathy. N Engl J Med 1997, 336:618-624.
65. Wahbi K., Meune C., Hamouda el H., et al. Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study. Neuromuscul Disord 2008, 18(8):650-655.
66. D'Amico A., Petrini S., Parisi F., et al. Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy. Neuromuscul Disord 2008, 18(2):153-155.
67. van der Kooi A.J., de Voogt W.G., Barth P.G., et al. The heart in limb girdle muscular dystrophy. Heart 1998, 79:73-77.
68. Lemmers R.J., van der Vliet P.J., Klooster R., et al. A unifying genetic model for facioscapulohumeral muscular dystrophy. Science 2010, 329(5999):1650-1653.
69. Laforet P., de Toma C., Eymard B., et al. Cardiac involvement in genetically confirmed facioscapulohumeral muscular dystrophy. Neurology 1998, 51:1454-1456.