Journal Mobile Options
Table of Contents
Vol. 99, No. 1, 2003
Issue release date: February 2003

The Heart in Human Dystrophinopathies

Finsterer J. · Stöllberger C.
To view the fulltext, log in and/or choose pay-per-view option

Individual Users: Register with Karger Login Information

Please create your User ID & Password

Contact Information

I have read the Karger Terms and Conditions and agree.

To view the fulltext, please log in

To view the pdf, please log in


Dystrophinopathies are due to mutations in the dystrophin gene on chromosome Xp21.1 and comprise the allelic entities Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and X-linked dilative cardiomyopathy (XLDCM). In all three entities, the heart is affected to various degrees, depending on the stage of the disease and the type of the mutation (cardiac involvement, CI). The pathoanatomic evidence of CI in dystrophinopathies is the replacement of myocardium by connective tissue or fat. In DMD/BMD, the left ventricular posterobasal and lateral walls are most extensively affected, sparing the right ventricle and the atrium. Degree and dynamics of CI vary among the three entities. In DMD/BMD, CI usually remains subclinical in the early stages of the disease. Typical initial manifestations of CI in DMD/BMD are sinus tachycardia, tall R1 in V1, prominent Q in I, aVL, V6 or in II, III, and aVF, increased QT dispersion and possibly autonomic dysfunction. Initially, echocardiography is normal or shows regional wall motion abnormalities in areas of fibrosis. With spreading of fibrosis, left ventricular dysfunction and ventricular arrhythmias additionally occur. In the final stages of the disease, systolic function may lead to heart failure and sudden death. Subclinical or clinical CI is present in about 90% of the DMD/BMD patients but is the cause of death in only 20% of the DMD and 50% of the BMD patients. XLDCM is a rapidly progressive, almost exclusively myocardial disorder, starting in teenage males as heart failure due to dilative cardiomyopathy (CMP), leading to death from intractable heart failure within 1–2 years after diagnosis. Therapy of arrhythmias and CMP in all three disorders follows the established cardiological recommendations. Due to its protective effect, ACE inhibitors are recommended already at the early stages of the disease. β-Blockers may be an additional option if indicated.

Copyright / Drug Dosage

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.


  1. Emery AE: The muscular dystrophies. Lancet 2002;359:687–695.
  2. Cox GF, Kunkel LM: Dystrophies and heart disease. Curr Opin Cardiol 1997;12:329–343.
  3. Rivier F, Robert A, Royuela M, Hugon G, Bonet-Kerrache A, Mornet D: Utrophin and dystrophin-associated glycoproteins in normal and dystrophin deficient cardiac muscle. J Muscle Res Cell Motil 1999;20:305–314.
  4. Conte G, Gioia L: Scrofola del systema muscolare. Ann Clin Osp Incurabili Napoli 1836, p 66.
  5. Rubin IL, Buchberg AS: The heart in progressive muscular dystrophy. Am Heart J 1952;43:161.
  6. Manning GW, Cropp GJ: The electrocardiogram in progressive muscular dystrophy. Br Heart J 1958;20:416–420.
  7. Finsterer J, Bittner RE, Grimm M: Cardiac involvement in Becker’s muscular dystrophy, necessitating heart transplantation, 6 years before apparent skeletal muscle involvement. Neuromuscul Disord 1999;9:598–600.
  8. Finsterer J, Stöllberger C: Cardiac involvement in primary myopathies. Cardiology 2000:94:1–11.
  9. Ishikawa K: Cardiac involvement in progressive muscular dystrophy of the Duchenne type. Jpn Heart J 1997;38:163–180.
  10. Ishikawa Y, Bach JR, Minami R: Cardioprotection for Duchenne’s muscular dystrophy. Am Heart J 1999;137:895–902.
  11. Kashiwagi S, Akaike M, Kawai H, Adachi K, Saito S: Estimation of cardiac function by plasma concentration of brain natriuretic peptide in patients with Duchenne muscular dystrophy. Rinsho Shinkeigaku 1996;36:7–11.
  12. Kawai H, Adachi K, Kimura C, Nishiuchi T, Yamasaki Y, Tsutsui Y, Saito S: Secretion and clinical significance of atrial natriuretic peptide in patients with muscular dystrophy. Arch Neurol 1990;47:900–904.
  13. Mori K, Manabe T, Nii M, Hyabuchi Y, Kuroda Y, Tatara K: Plasma levels of natriuretic peptides and echocardiographic parameters in patients with Duchenne’s progressive muscular dystrophy. Pediatr Cardiol 2002;23:160–166.
  14. Finsterer J, Stöllberger C, Köcher K, Mamoli B: ECG abnormalities in myopathies, coronary heart disease and controls. Herz 1997;22:277–282.
  15. Ishikawa Y, Bach JR, Sarma RJ, Tamura T, Song J, Marra SW, Ishikawa Y, Minami R: Cardiovascular considerations in the management of neuromuscular disease. Semin Neurol 1995;15:103–108.
  16. Kubo M, Matsuoka S, Taguchi Y, Akita H, Kuroda Y: Clinical significance of late potentials in patients with Duchenne muscular dystrophy. Pediatr Cardiol 1993;14:214–219.
  17. Schmidt-Redemann B, Beckmann R, Schaupeter W, Schmidt-Redemann W, Vogt J: Cardiomyopathy in Duchenne muscular dystrophy. 2. Serum enzymes, vector-cardiography, and echo-cardiography in 143 patients. Med Klin 1978;73:1621–1626.
  18. Yotsukura M, Miyagawa M, Tsuya T, Ishihara T, Ishikawa K: A 10-year follow-up study by orthogonal Frank lead ECG on patients with progressive muscular dystrophy of the Duchenne type. J Electrocardiol 1992;25:345–353.
  19. Backman E, Nylander E: The heart in Duchenne muscular dystrophy: A non-invasive longitudinal study. Eur Heart J 1992;13:1239–1244.
  20. Ducceschi V, Nigro G, Sarubbi B, Comi LI, Politano L, Petretta VR, Nardi S, Briglia N, Santangelo L, Nigro G, Iacono A: Autonomic nervous system imbalance and left ventricular systolic dysfunction as potential candidates for arrhythmogenesis in Becker muscular dystrophy. Int J Cardiol 1997;59:275–279.
  21. Lanza GA, Russo AD, Giglio V, DeLuca L, Messano L, Santini C, Ricci E, Damiani A, Fumagalli G, DeMartino G, Mangiola F, Bellocci F: Impairment of cardiac autonomic function in patients with Duchenne muscular dystrophy: Relationship to myocardial and respiratory function. Am Heart J 2001;141:808–812.
  22. Vita G, Di Leo R, DeGregorio C, Papalia A, Rodolico C, Coglitore S, Messina C: Cardiovascular autonomic control in Becker muscular dystrophy. J Neurol Sci 2001;186:45–49.
  23. Kaminaga T, Matsumura K, Hatanaka K, Shimizu T: Abnormality of the myocardial sympathetic nervous system in a patient with Becker muscular dystrophy detected with iodine-123-metaiodobenzylguanidine scintigraphy. Clin Nucl Med 2001;26:701–703.
  24. Chenard AA, Becane HM, Tertrain F, Weiss YA: Systolic time intervals in Duchenne muscular dystrophy: Evaluation of left ventricular performance. Clin Cardiol 1988;11:407–411.
  25. Mansi L, Pace L, Politano L, Rambaldi PF, DiGregorio F, Raia P, Petretta VR: Left ventricular function and perfusion in Becker’s muscular dystrophy. J Nucl Med 1997;38:563–567.
  26. Miyoshi K: Echocardiographic evaluation of fibrous replacement in the myocardium of patients with Duchenne muscular dystrophy. Br Heart J 1991;66:452–455.
  27. Nishimura T, Yanagisawa A, Sakata H, Sakata K, Shimoyama K, Ishihara T, Yoshino H, Ishikawa K: Thallium-201 single photon emission computed tomography (SPECT) in patients with Duchenne’s progressive muscular dystrophy: A histopathologic correlation study. Jpn Circ J 2001;65:99–105.
  28. Momose M, Iguchi N, Imamura K, Usui H, Ueda T, Miyamoto K, Inaba S: Depressed myocardial fatty acid metabolism in patients with muscular dystrophy. Neuromuscul Disord 2001;11:464–469.
  29. Maeda M, Nakao S, Miyazato H, Setoguchi M, Arima S, Higuchi I, Osame M, Taira A, Nomoto K, Toda H: Cardiac dystrophin abnormalities in Becker muscular dystrophy assessed by endomyocardial biopsy. Am Heart J 1995;129:702–707.
  30. Towbin JA: The role of cytoskeletal proteins in cardiomyopathies. Curr Opin Cell Biol 1998;10:131–139.
  31. Quinlivan R, Ball J, Dunckley M, Thomas DJ, Flinter F, Morgan-Hughes J: Becker muscular dystrophy presenting with complete heart block in the sixth decade. J Neurol 1995;242:398–400.
  32. Gnecchi-Ruscone T, Taylor J, Mercuri E, Paternostro G, Pogue R, Bushby K, Sewry C, Muntoni F, Camici PG: Cardiomyopathy in Duchenne, Becker, and sarcoglycanopathies: A role for coronary dysfunction? Muscle Nerve 1999;22:1549–1556.
  33. Perloff JK, Henze E, Schelbert HR: Alterations in regional myocardial metabolism, perfusion, and wall motion in Duchenne muscular dystrophy studied y radionuclide imaging. Circulation 1984;69:33–42.
  34. Crilley JG, Boehm EA, Rajagopalan B, Blamire AM, Styles P, Muntoni F, Hilton-Jones D, Clarke K: Magnetic resonance spectroscopy evidence of abnormal cardiac energetics in Xp21 muscular dystrophy. J Am Coll Cardiol 2000;36:1953–1958.
  35. Griffin JL, Williams HJ, Sang E, Clarke K, Rae C, Nicholson JK: Metabolic profiling of genetic disorders: A multitissue (1)H nuclear magnetic resonance spectroscopic and pattern recognition study into dystrophic tissue. Anal Biochem 2001;293:16–21.
  36. Melacini P, Vianello A, Villanova C, Fanin M, Miorin M, Angelini C, Dalla Volta S: Cardiac and respiratory involvement in advanced stage Duchenne muscular dystrophy. Neuromuscul Disord 1996;6:367–376.
  37. Moriuchi T, Kagawa N, Mukoyama M, Hizawa K: Autopsy analysis of the muscular dystrophies. Tokushima J Exp Med 1991;40:83–93.
  38. Moriuchi T, Fujii Y, Kagawa N, Hizawa K: Autopsy study on the weight of the heart, liver, kidney and brain in Duchenne muscular dystrophy. Tokushima J Exp Med 1991;38:5–13.
  39. Perloff JK, Roberts SC, deLeon AC Jr, O’Doherty D: Distinctive electrocardiogram of Duchenne’s progressive muscular dystrophy. Am J Med 1967;42:170–188.
  40. Sasaki K, Sakata K, Kachi E, Hirata S, Ishihara T, Ishikawa K: 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.
  41. D’Orsogna L, O’Shea JP, Miller G: Cardiomyopathy of Duchenne muscular dystrophy. Pediatr Cardiol 1988;9:205–213.
  42. Kimura C, Kawai H, Adachi K, Nishiuchi T, Saito S: Secretion and clinical significance of atrial natriuretic peptide in patients with muscular dystrophy. Rinsho Shinkeigaku 1989;29:290–295.
  43. Riggs T: Cardiomyopathy and pulmonary emboli in terminal Duchenne’s muscular dystrophy. Am Heart J 1990;119:690–693.
  44. Gaffney JF, Kingston WJ, Metlay LA, Gramiak R: Left ventricular thrombus and systemic emboli complicating the cardiomyopathy of Duchenne’s muscular dystrophy. Arch Neurol 1989;46:1249–1252.
  45. Saito T, Takenaka M, Miyai I, Yamamoto Y, Matsumura T, Nozaki S, Kang J: Coagulation and fibrinolysis disorder in muscular dystrophy. Muscle Nerve 2001;24:399–402.
  46. Porreca E, Guglielmi MD, Uncini A, DiGregorio P, Angelini A, DiFebbo C, Pierdomenico SD, Baccante G, Cuccurullo F: Haemostatic abnormalities, cardiac involvement and serum tumor necrosis factor levels in X-linked dystrophic patients. Thromb Haemost 1999;81:543–546.
  47. Hammerer-Lercher A, Erlacher P, Bittner R, Korinthenberg R, Skladal D, Sorichter S, Sperl W, Puschendorf B, Mair J: Clinical and experimental results on cardiac troponin expression in Duchenne muscular dystrophy. Clin Chem 2001;47:451–458.
  48. Boland BJ, Silbert PL, Groover RV, Wollan PC, Silverstein MD: Skeletal, cardiac, and smooth muscle failure in Duchenne muscular dystrophy. Pediatr Neurol 1996;14:7–12.
  49. Yanagisawa A, Yokota N, Myagawa M, Kawamura J, Ishihara T, Aoyagi T, Ishikawa K; Plasma levels of natriuretic peptide in patients with Duchenne’s progressive muscular dystrophy. Am Heart J 1992;120:1154–1158.
  50. Nigro G, Comi LI, Politano L, Limongelli FM, Nigro V, DeRimini ML, Giugliano MA, Petretta VR, Passamano L, Restucci B: Evaluation of the cardiomyopathy in Becker muscular dystrophy. Muscle Nerve 1995;18:283–291.
  51. Yotsukura M, Sasaki K, Kachi E, Sasaki A, Ishihara T, Ishikawa K: Circadian rhythm and variability of heart rate in Duchenne type progressive muscular dystrophy. Am J Cardiol 1995;765:947–951.
  52. Slucka C: The electrocardiogram in Duchenne progressive muscular Dystrophy. Circulation 1968;38:933–940.
  53. Gilroy J, Cahalan JL, Berman R, Newman M: Cardiac and pulmonary complications in Duchenne’s progressive muscular dystrophy. Circulation 1963;27:484–493.
  54. Berenbaum AA, Horowitz W: Heart involvement in progressive muscular dystrophy. Report of a case with sudden death. Am Heart J 1956;51:622–627.
  55. Nigro G, Comi LI, Politano L, Bain RJ: The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy. Int J Cardiol 1990;26:271–277.
  56. Corrado G, Lissoni A, Beretta S, Terenghi L, Tadeo G, Foglia-Manzillo G, Tagliagambe LM, Spata M, Santarone M: 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.
  57. Yotsukura M, Yamamoto A, Kajiwara T, Nishimura T, Sakata K, Ishihara T, Ishikawa K: QT dispersion in patients with Duchenne type progressive muscular dystrophy. Am Heart J 1999;137:672–677.
  58. Bhattacharyya KB, Basu N, Ray TN, Maity B: Profile of electrocardiographic changes in Duchenne muscular dystrophy. J Indian Med Assoc 1997;95:40–42.
  59. Chenard AA, Becane HM, Tertrain F, deKermadec JM, Weiss YA: Ventricular arrhythmia in Duchenne muscular dystrophy: Prevalence, significance and prognosis. Neuromuscul Disord 1993;3:201–206.
  60. Saito M, Kawai H, Akaike M, Adachi K, Nishida Y, Saito S: Cardiac dysfunction with Becker muscular dystrophy. Am Heart J 1996;132:642–647.
  61. Danilowicz D, Rutkowski M, Myung D, Schively D: Echocardiography in Duchenne muscular dystrophy. Muscle Nerve 1980;3:298–303.
  62. Quinlivan RM, Lewis P, Marsden P, Dundas R, Robb SA, Baker E, Maisey M: Cardiac function, metabolism, and perfusion in Duchenne and Becker muscular dystrophy. Neuromuscul Disord 1996;6:237–246.
  63. Heymsfield SB, McNish T, Perkins JV, Felner JM: Sequence of cardiac changes in Duchenne muscular dystrophy. Am Heart J 1978;95:283–294.
  64. Breithardt G, Borggrefe M, Karbenn U, Abendroth R, Yeh H, Seipl L: Prevalence of late potentials in patients with and without ventricular tachycardia: Correlation with angiographic findings. Am J Cardiol 1982;49:1932–1937.
  65. Miller G, D’Orsogna L, O’Shea JP: Autonomic function and the sinus tachycardia of Duchenne muscular dystrophy. Brain Dev 1989;11:247–250.
  66. Brockmeier K, Schmitz L, vonMoers A, Koch H, Vogel M, Bein G: X-chromosomal (p21) muscular dystrophy and left ventricular diastolic and systolic function. Pediatr Cardiol 1998;19:139–144.
  67. Finsterer J, Stöllberger C, Blazek G, Spahits E: Cardiac involvement in myotonic dystrophy, Becker muscular dystrophy and mitochondrial myopathy: A five-year follow-up. Can J Cardiol 2001;17:1061–1069.
  68. Farah MG, Evans EB, Vignos PJ: Echocardiographic evaluation of left ventricular function in Duchenne’s muscular dystrophy. Am J Med 1980;69:248–254.
  69. Sanyal SK, Leung RKF, Tirney EC, Gilmartin R, Pinter S: Mitral valve prolapse syndrome in children with Duchenne’s progressive muscular dystrophy. Pediatrics 1979;63:116–123.
  70. DeKermadec JM, Becane HM, Chenard A, Tertrain F, Weiss Y: Prevalence of left ventricular systolic dysfunction in Duchenne muscular dystrophy: An echocardiographic study. Am Heart J 1994;127:618–623.
  71. Nagai T: Prognostic evaluation of congestive heart failure in patients with Duchenne muscular dystrophy – Retrospective study using non-invasive cardiac function tests. Jpn Circ J 1989;53:406–415.
  72. Takenaka A, Yokota M, Iwase M, Miyaguchi H, Hayashi H, Saito H: Discrepancy between systolic and diastolic dysfunction of the left ventricle in patients with Duchenne muscular dystrophy. Eur Heart J 1993;14:669–676.
  73. Matsuoka S, Ii K, Akita H, Tomimatsu H, Kurahashi Y, Nakatsu T, Miyao M: Clinical features and cardiopulmonary function of patients with atrophic heart in Duchenne muscular dystrophy. Jpn Heart J 1987;28:687–694.
  74. Saitoh M, Kasagi S, Miyakoda H, Kotake H, Mashiba H: Evaluation of cardiac complications in patients with Duchenne muscular dystrophy using echocardiography – A comparison between patients with and without mechanical ventilation. No To Shinkei 1991;43:37–41.
  75. Goldberg SJ, Stern LZ, Feldman L, Allen HD, Sahn DJ, Valdes-Cruz LM: Serial two-dimensional echocardiography in Duchenne muscular dystrophy. Neurology 1982;32:1101–1105.
  76. Cziner DG, Levin RI: The cardiomyopathy of Dechenne’s muscular dystrophy and the function of dystrophin. Med Hypotheses 1993;40:169–173.
  77. Fenoglio JJ, Pham TD, Harken AH, Horowitz LN, Josephson ME, Wit AL: Recurrent sustained ventricular tachycardia: Structure and ultrastructure of subendocardial regions in which tachycardia originated. Circulation 1983;68:518–533.
  78. James TN: Observations on the cardiovascular involvement, including the cardiac conduction system, in progressive muscular dystrophy. Am Heart J 1962;63:48–56.
  79. Frankel KA, Rosser RJ: The pathology of the heart in progressive muscular dystrophy. Epimyocardial fibrosis. Hum Pathol 1976;7:375–386.
  80. Malhotra V, Tatke M, Gondal R, Prasad M, Sethi KK, Arora R, Kaul UA, Khalilullah M: Endomyocardial biopsy – Its evaluation in cardiac disorders. Indian Heart J 1993;45:49–52.
  81. Wakai S; Minami R, Kameda K, Okabe M, Nagaoka M, Annaka S, Higashidate Y, Tomita H, Tachi N: Electron microscopic study of the biopsied cardiac muscle in Duchenne muscular dystrophy. J Neurol Sci 1988;84:167–175.
  82. Hoogerwaard EM, van der Wouw PA, Wilde AAM, Bakker E, Ippel PF, Oosterwijk JC, Majoor-Krakauer DF, van Essen AJ, Leschot NJ, deVisser M: Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord 1999;9:347–351.
  83. Kamakura K, Kawai M, Arahata K, Koizumi H, Watanabe K, Sugita H: A manifesting carrier of Duchenne muscular dystrophy with severe myocardial symptoms. J Neurol 1990;237:483–485.
  84. Melacini P, Fanin M, Angelini A, Pegoraro E, Livi U, Danieli GA, Hoffman EP, Thiene G, Dalla-Volta S, Angelini C: Cardiac transplantation in a Duchenne muscular dystrophy carrier. Neuromuscul Disord 1998;8:585–590.
  85. Graham RM, Owens WA: Pathogenesis of inherited forms of dilative cardiomyopathy. N Engl J Med 1999;341:1759–1762.
  86. Comi LI, Nigro G, Politano L, Petretta VR: The cardiomyopathy of Duchenne/Becker consultants. Int J Cardiol 1992;34:297–305.
  87. Hoogerwaard EM, Bakker E, Ippel PF, Oosterwijk JC, Majoor-Krakauer DF, Leschot NJ, van Essen AJ, Brunner HG, van der Wouw PA, Wilde AA, deVisser M: Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: A cohort study. Lancet 1999;353:2116–2119.
  88. Hoogerwaard EM, Schouten Y, van der Kooi AJ, Gorgels JP, deVisser M, Sanders GT: Troponin T and troponin I in carriers of Duchenne and Becker muscular dystrophy with cardiac involvement. Clin Chem 2001;47:962–963.
  89. Grain L, Cortina-Borja M, Forfar C, Hilton-Jones D, Hopkin J, Burch M: Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls. Neuromuscul Disord 2001;11:186–191.
  90. Mirabella M, Servidei S, Manfredi G, Ricci E, Frustaci A, Bertini E, Rana M, Tonali P: Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy. Neurology 1993;43:2342–2345.
  91. Nigro G, Comi LI, Limongelli FM, Giugliano MA, Politano L, Petretta V, Passamano L, Stefanelli S: Prospective study of X-linked progressive muscular dystrophy in Campania. Muscle Nerve 1983;6:253–262.
  92. Brooke MH, Fenichel GM, Griggs RC, Mendell JR, Moxley R, Florence J, King WM, Pandya S, Robison J, Schierbecker J: Duchenne muscular dystrophy: Patterns of clinical progression and effects of supportive therapy. Neurology 1989;39:475–481.
  93. Weisenfeld S, Messinger WJ: Cardiac involvement in progressive muscular dystrophy. Am Heart J 1952;43:170–187.
  94. Yoshida K, Ikeda S, Nakamura A, Kagoshima M, Takeda S, Shoji S, Yanagisawa N: Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilative cardiomyopathy. Muscle Nerve 1993;16:1161–1166.
  95. Angelini C, Fanin M, Freda MP, Martinello F, Miorin M, Melacini P, Siciliano G, Pegoraro E, Rosa M, Danieli GA: Prognostic factor in mild dystrophinopathies. J Neurol Sci 1996;142:70–78.
  96. Angelini C, Fanin M, Pegoraro E, Freda MP, Cadaldini M, Martinello F: Clinical molecular correlation in 104 mild X-linked muscular dystrophy patients: Characterization of sub-clinical phenotypes. Neuromuscul Disord 1994;4:349–358.
  97. Jones HR, de la Monte SM, Narula M: A 22-year-old man with cardiac transplant and creatine kinase elevation. N Engl J Med 1998;339:182–191.
  98. Piccolo G, Azan G, Tonin P, Arbustini E, Gavazzi A, Banfi P, Mora M, Morandi L, Tedeschi S: Dilative cardiomyopathy requiring cardiac transplantation as initial manifestation of Xp21 Becker type muscular dystrophy. Neuromuscul Disord 1994;4:143–146.
  99. Comi GP, Prelle A, Bresolin N, et al: Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates. Brain 1994;117:1–14.

    External Resources

  100. Steare SE, Dubowitz V, Benatar A: Subclinical cardiomyopathy in Becker muscular dystrophy. Br Heart J 1992;68:304–308.
  101. Orlov YSK, Brodsky MA, Allen BJ, Ott RA, Orlov MV, Jay CA: Cardiac manifestations and their management in Becker’s muscular dystrophy. Am Heart J 1994;128:193–196.
  102. Casazza F, Brambilla G, Salvato A, Morandi L, Gronda E, Bonacina E: Cardiac transplantation in Becker muscular dystrophy. J Neurol 1988;235:496–498.
  103. Emery AE, Skinner R: Clinical studies in benign (Becker type) X-linked muscular dystrophy. Clin Genet 1976;10:189–201.
  104. Saito M, Kawai H, Adachi K, Akaike M: Clinical feature and mechanism of cardiac failure in patients with Becker muscular dystrophy. Rinsho Shinkeigaku 1994;34:134–140.
  105. Nigro G, Nigro G, Politano L, Santangelo L, Petretta VR, Passamano L, Panico F, DeLuca F, Montefusco A, Comi LI: Is the value of QT dispersion a valid method to foresee the risk of sudden death? A study in Becker patients. Heart 2002;87:156–157.
  106. Palmucci L, Doriguzzi C, Mongini T, Chiado-Piat L, Restagno G, Carbonara A, Paolillo V: Dilating cardiomyopathy as the expression of Xp21 Becker type muscular dystrophy. J Neurol Sci 1992;111:218–221.
  107. Melacini P, Fanin M, Danieli GA, Fasoli G, Villanova C, Angelini C, Vitiello L, Miorelli M, Buja GF, Mostacciuolo ML: Cardiac involvement in Becker muscular dystrophy. J Am Coll Cardiol 1993;22:1927–1934.
  108. deVisser M, deVoogt WG, laRivière GV: The heart in Becker muscular dystrophy, facioscapulohumeral dystrophy, and Bethlem myopathy. Muscle Nerve 1992;15:591–596.
  109. Hoogerwaard EM, deVoogt WG, Wilde AA, van der Wouw PA, Bakker E, van Ommen GJ, deVisser M: Evolution of cardiac abnormalities in Becker muscular dystrophy over a 13-year period. J Neurol 1997;244:657–663.
  110. Ishigaki C, Patria SY, Nishio H, Yoshioka A, Matsuo M: Early cardiac failure in a child with Becker muscular dystrophy is due to an abnormally low amount of dystrophin transcript lacking exon 13. Acta Paediatr Jpn 1997;39:685–689.
  111. Saotome M, Yoshitomi Y, Kojima S, Kuramochi M: Dilated cardiomyopathy of Becker-type muscular dystrophy with exon 4 deletion – A case report. Angiology 2001;52:343–347.
  112. Finsterer J, Stöllberger C: Spontaneous left ventricular hypertrabeculation in dystrophin duplication based Becker muscular dystrophy. Herz 2001;26:477–481.
  113. Stöllberger C, Finsterer J, Valentin A, Blazek G, Tscholakoff D: Isolated left ventricular abnormal trabeculation in adults is associated with neuromuscular disorders. Clin Cardiol 1999;22:119–223.
  114. Nagamachi S, Inoue K, Jinnouchi S, Hoshi H, Ohno S, Ohnishi T, Futami S, Watanabe K, Hayashi T: Cardiac involvement of progressive muscular dystrophy (Becker type, Limb-girdle type and Fukuyama type) evaluated by radionuclide method. Ann Nucl Med 1994;8:71–74.
  115. Lazzeroni E, Favaro L, Botti G: Dilated cardiomyopathy with regional myocardial hypoperfusion in Becker’s muscular dystrophy. Int J Cardiol 1989;22:126–129.
  116. Donofrio PD, Challa VR, Hackshaw BT, Mills SA, Cordell AR: Cardiac transplantation in a patient with muscular dystrophy and cardiomyopathy. Arch Neurol 1989;46:705–707.
  117. Muntoni F, Melis MA, Ganau A, Dubowitz V: Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilative cardiomyopathy. Am J Hum Genet 1995;56:151–157.
  118. Bushby K, Muntoni F, Bourke J: 107th ENMC International Workshop: The management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th–9th June 2002. Naarden, The Netherlands. Neuromuscul Disord, in press.
  119. Hootsmans WJ, Meerschwam IS: Electromyography in patients with hypertrophic obstructive cardiomyopathy. Neurology 1971;21:810–816.
  120. Quinlivan RM, Dubowitz V: Cardiac transplantation in Becker muscular dystrophy. Neuromuscul Disord 1992;2:165–167.
  121. Sakata C, Yamada H, Sunohara N, Arahata K, Nonaka I: Cardiomyopathy in Becker muscular dystrophy. Rinsho Shinkeigaku 1990;30:952–955.
  122. Towbin JA, Hejtmancik JF, Brink P, Gelb B, Zhu XM, Chamberlain JS, McCabe ER, Swift M: X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation 1993;87:1854–1865.
  123. Ferlini A, Sewry C, Melis MA, Mateddu A, Muntoni F: X-linked dilative cardiomyopathy and the dystrophin gene. Neuromuscul Disord 1999;9:339–346.
  124. Franz WM, Cremer M, Herrmann R, Grünig E, Fogel W, Scheffold T, Goebel HH, Kircheisen R, Kübler W, Voit T, Katus HA: X-linked dilative cardiomyopathy. Novel mutation of the dystrophin gene. Ann NY Acad Sci 1995;752:470–491.
  125. Milasin J, Muntoni F, Severini GM, Batolini L, Vatta M, Krajinovic M, Mateddu A, Angelini C, Camerini F, Falaschi A, Mestroni L, Giacca M: A point mutation in the 5′ splice site of the dystrophin gene first intron responsible for X-linked dilative cardiomyopathy. Hum Mol Genet 1996;5:73–79.
  126. Palmucci L, Mongini T, Chiado-Piat L, Doriguzzi C, Fubini A: Dystrophinopathy expressing as either cardiomyopathy or Becker dystrophy in the same family. Neurology 2000;54:529–530.
  127. Muntoni F, DiLenarda A, Porcu M, Sinagra G, Mateddu A, Marrosu G, Ferlini A, Cau M, Milasin J, Melis MA, Marrosu MG, Cianchetti C, Sanna A, Falaschi A, Camerini F, Giacca M, Mestroni L: Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy. Heart 1997;78:608–612.
  128. Ortiz-Lopez R, Li H, Su J, Goytia V, Towbin JA: Evidence for a dystrophin missense mutation as a cause of X-linked dilative cardiomyopathy. Circulation 1997;95:2434–2440.
  129. Shiga N, Akita H, Yokoyama M: Mutations of the dystrophin gene in dilated cardiomyopathy. Nippon Rinsho 2000;58:123–127.
  130. Doing AH, Renlund DG, Smith RA: Becker muscular dystrophy-related cardiomyopathy: A favorable response to medical therapy. J Heart Lung Transplant 2002;21:496–498.
  131. Gregoratos G, Cheitlin MD, Conill A, Epstein AE, Fellows C, Ferguson TB Jr, Freedman RA, Hlatky MA, Naccarelli GV, Saksena S, Schlant RC, Silka MJ, Ritchie JL, Gibbons RJ, Cheitlin MD, Eagle KA, Gardner TJ, Lewis RP, O’Rourke RA, Ryan TJ, Garson A Jr: ACC/AHA guidelines for implantation of cardiac pacemakers and antiarrhythmia devices: A report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Committee on Pacemaker Implantation): J Am Coll Cardiol 1998;31:1175–1209.
  132. Negri SM, Cowan MD: Becker muscular dystrophy with bundle branch reentry ventricular tachycardia. J Cardiovasc Electrophysiol 1998;9:652–654.
  133. Matsumura T, Saito T, Miyai I, Nozaki S, Kang J: Electrolyte abnormalities and metabolic acidosis in two Duchenne muscular dystrophy patients with advanced congestive heart failure. Rinsho Shinkeigaku 2000;40:439–445.
  134. Saito T, Matsumura T, Miyai I, Nozaki S, Shinno S: Carvedilol effectiveness for left ventricular-insufficient patients with Duchenne muscular dystrophy. Rinsho Shikeigaku 2001;41:691–694.
  135. Matsumura T, Saito T, Miyai I, Nozaki S, Kang J: Effective milrinone therapy to a Duchenne muscular dystrophy patient with advanced congestive heart failure. Rinsho Shunkeigaku 1999;39:643–648.
  136. Takano N, Honke K, Hasui M, Ohno I, Takemura H: A case of pacemaker implantation for complete atrioventricular block associated with Duchenne muscular dystrophy. No To Hattatsu 1997;29:476–480.
  137. Arnould JF, Bigot A, Steenbeke L, David A, Mussini JM: Heart arrest during general anesthesia in a child with unrecognized Duchenne’s dystrophy. Ann Fr Anesth Reanim 1986;5:612–614.
  138. Breucking E, Reimnitz P, Schara U, Mortier W: 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.
  139. Muntoni F, Can M, Ganau A, Congiu R, Arvedi G, Mateddu A, Marrosu MG, Cianchetti C, Realdi G, Cao A, Melis MA: Deletion of the dystrophin muscle-promoter region associated with X–linked dilative cardiomyopathy. N Engl J Med 1993;329:921–925.
  140. Yoshida K, Nakamura A, Yazaki M, Ikeda S, Takeda S: Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilative cardiomyopathy. Hum Mol Genet 1998;7:1129–1132.
  141. Bies RD, Maeda M, Roberds SL, Holder E, Bohlmeyer T, Young JB, Campbell KP: A 5′ dystrophin duplication mutation causes membrane deficiency of a dystroglycan in a family with X-linked cardiomyopathy. J Mol Cell Cardiol 1997;29:3175–3188.
  142. Ferlini A, Muntoni F: The 5′ region of intron 11 of the dystrophin gene contains target sequences for mobile elements and three overlapping ORFs. Biochem Biophys Res Commun 1998;242:401–406.
  143. Franz W, Müller M, Müller QJ, Herrmann R, Rothmann T, Cremer M, Cohn RD, Voit T, Katus HA: Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy. Lancet 2000;355:1781–1785.
  144. Melis MA, Cau M, Deida F, et al: Mutation of dystrophin gene in two families with X-linked dilative cardiomyopathy. Neuromuscul Disord 1998;8:244.
  145. Borgeat A, Goy JJ, Sigwart U: Acute pulmonary edema as the inaugural symptom of Becker’s muscular dystrophy in a 19-year-old patient. Clin Cardiol 1987;10:127–129.
  146. Danzi GB, Gronda E, Campolo L: Multiple coronary arteriovenous fistulas in a patient who had an orthotopic heart transplant. G Ital Cardiol 1989;19:701–704.
  147. Arthuber M, Kemkes BM, Schuetz A, Kugler C, Sudhoff F, Spes G, Angermann C: Heart transplantation in patients with ‘so-called’ contraindications. Transplant Proc 1990;20:1451–1453.
  148. Rees W, Schüler S, Hummel M, Hetzer R: Heart transplantation in patients with muscular dystrophy associated with end-stage cardiomyopathy. J Heart Lung Transplant 1993;12:804–807.
  149. Bittner RE, Shorny S, Streubel B, Hübner C, Voit T, Kress W: Serum antibodies to the deleted dystrophin sequence after cardiac transplantation in a patient with Becker’s muscular dystrophy. N Engl J Med 1995;333:732–733.
  150. Franz W, Herrmann R, Cremer M, et al: Novel stop mutation and alternative splicing of exon 29 in the dystrophin gene associated with rapid progressive familial dilative cardiomyopathy. Med Genetik 1995;2:192.
  151. Fiocchi R, Vernocchi A, Gariboldi F, Senni M, Mamprin F, Gamba A: Tropinin I as a specific marker for heart damage after heart transplantation in a patient with Becker type muscular dystrophy. J Heart Lung Transplant 1997;16:969–973.
  152. Melacini P, Gambino A, Caforio A, Barchitta A, Valente ML, Angelini A, Fanin M, Thiene G, Angelini C, Casarotto D, Danieli GA, Dalla-Volta S: Heart transplantation in patients with inherited myopathies associated with end-stage cardiomyopathy: Molecular and biochemical defects on cardiac and skeletal muscle. Tranplant Proc 2001;33:1596–1599.
  153. Fanin M, Melacini P, Angelini C, Danieli GA: Could utrophin rescue the myocardium of patients with dystrophin gene mutations? J Mol Cell Cardiol 1999;31:1501–1508.
  154. Davies JE, Winokur TS, Aaron MF, Benza RL, Foley BA, Holman WL: Cardiomyopathy in a carrier of Duchenne’s muscular dystrophy. J Heart Lung Transplant 2001;20:781–784.

Pay-per-View Options
Direct payment This item at the regular price: USD 38.00
Payment from account With a Karger Pay-per-View account (down payment USD 150) you profit from a special rate for this and other single items.
This item at the discounted price: USD 26.50