Journal of the American Society of Echocardiography
Volume 23, Issue 8 , Pages 854-856 , August 2010

Identifying Abnormalities of Left Ventricular Systolic Function in Asymptomatic “Carriers” of Dystrophin Mutations: Getting Better…but Not There Yet

  • Benjamin W. Eidem, MD, FACC, FASE

      Affiliations

    • Corresponding Author InformationReprint requests: Benjamin W. Eidem MD, FACC, FASE, Mayo Clinic, Division of Pediatric Cardiology, 200 First Street SW, Rochester, MN 55905.

References 

  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. Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987;51:919–928
  4. Towbin JA. The role of cytoskeletal proteins in cardiomyopathies. Curr Opin Cell Biol. 1998;10:131–139
  5. Petrof BJ. Molecular pathophysiology of myofiber injury in deficiencies of the dystrophin-glycoprotein complex. Am J Phys Med Rehab. 2002;81:S162–S174
  6. Bowles NE, Bowles KR, Towbin JA. The “final common pathway” hypothesis and inherited cardiovascular disease: the role of cytoskeletal proteins in dilated cardiomyopathy. Herz. 2000;25:168–175
  7. Nigro G, Comi LI, Politano L, Bain RJI. The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy. Int J Cardiol. 1990;26:271–277
  8. Perloff JK, de Leon AC, O'Doherty D. The cardiomyopathy of progressive muscular dystrophy. Circulation. 1966;33:625–648
  9. Jeffereis JL, Eidem BW, Belmont JW, Craigen WJ, Ware SM, Fernbach SD, et al. Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy. Circulation. 2005;112:2799–2804
  10. Duboc D, Meune C, Lerebours G, Devaux JY, Vaksman G, Becane HM. Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy. J Am Coll Cardiol. 2005;45:855–857
  11. Biggar WD, Gingras M, Fehlings DL, Harris VA, Steele CA. Deflazacort treatment of Duchenne muscular dystrophy. J Pediatr. 2001;138:45–50
  12. Vatta M, Stetson SJ, Perez-Verdia A, Entman ML, Noon GP, Torre-Amione G, et al. Molecular remodeling of dystrophin in patients with end stage cardiomyopathies and reversal in patients on assistance-device therapy. Lancet. 2002;359:936–941
  13. Ogata H, Ishikawa Y, Ishikawa Y, Minami R. Beneficial effects of beta-blockers and angiotensin-converting enzyme inhibitors in Duchenne muscular dystrophy. J Cardiol. 2009;53:72–78
  14. Nigro G, Comi LI, Politano L. Electrocardiographic evaluation of the P type stage of dystrophic cardiomyopathy. Cardiomyology. 1984;3:45–58
  15. 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
  16. Ganame J, Claus P, Eyskens B, Uyttebroeck A, Renard M, D'Hooge J, et al. Acute cardiac functional and morphological changes after anthracycline infusions in children. Am J Cardiol. 2007;99:974–977
  17. Markham LW, Michelfelder EC, Border WL, Khoury PR, Spicer RL, Wong BL, et al. Abnormalities of diastolic function preceed dilated cardiomyopathy associated with Duchenne muscular dystrophy. J Am Soc Echocardiogr. 2006;19:865–871
  18. Takenaka A, Yokota M, Iwase M, Miyaguchi K, Hayashi H, Saito H. Discrepancy between systolic and diastolic dysfunction of the left ventricle in patients with Duchenne muscular dystrophy. Eur Heart J. 1993;14:669–674
  19. Mertens L, Ganame J, Claus P, Goemans N, Thijs D, Eyskens B, et al. Early regional myocardial dysfunction in young patients with Duchenne muscular dystrophy. J Am Soc Echocardiogr. 2008;21:1049–1054
  20. Giatrakos N, Kinali M, Stephens D, Dawson D, Muntoni F, Nuhoyannopoulos P. Cardiac tissue velocities and strain rate in the early detection of myocardial dysfunction of asymptomatic boys with Duchenne's muscular dystrophy: relationship to clinical outcome. Heart. 2006;92:840–842
  21. Ashford MW, Liu W, Lin SJ, Abraszewski P, Caruthers SD, Connolly AM, et al. Occult cardiac contractile dysfunction in dystrophin-deficient children revealed by cardiac magnetic resonance strain imaging. Circulation. 2005;112:2462–2467
  22. Agretto A, Politano L, Bossone E, Petretta VR, D'Isa S, Passamano L, et al. Pulsed tissue Doppler imaging in dystrophinopathic cardiomyopathy. J Am Soc Echocardiogr. 2002;15:891–899
  23. Bahler RC, Mohyuddin T, Finkelhor RS, Jacobs IB. Contribution of Doppler tissue imaging and myocardial performance index to assessment of left ventricular function in patients with Duchenne's muscular dystrophy. J Am Soc Echocardiogr. 2005;18:666–673
  24. Giglio V, Pasceri V, Messano L, Parisi Q, Rinelli G, Pasquini L, et al. Ultrasound tissue characterization predicts preclinical myocardial structural changes in children affected by Duchenne muscular dystrophy. J Am Coll Cardiol. 2003;42:309–316
  25. Berko BA, Swift M. X-linked dilated cardiomyopathy. N Engl J Med. 1987;316:1186–1191
  26. Towbin JA, Hejtmancik JF, Brink P, Gelb B, Zhu XM, Chamberlain JS, et al. 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
  27. Ortiz-Lopez R, Li H, Su J, Goytia V, Towbin JA. Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy. Circulation. 1997;95:2434–2440
  28. Politano L, Nigro V, Nigro G, Petretta VR, Passamano L, Papparella S, et al. Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA. 1996;275:1335–1338
  29. Comi LI, Nigro G, Politano L, Petretta VR. The cardiomyopathy of Duchenne / Becker consultands. Int J Cardiol. 1992;34:297–305
  30. Nolan MA, Jones ODH, Pedersen RL, Johnston HM. Cardiac assessment in childhood carriers of Duchenne and Becker muscular dystrophies. Neuromuscular Disorders. 2003;13:129–132
  31. Grain L, Cortina-Borja 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
  32. Hoogerwaard EM, van der Wouw PA, Wilde AAM, Bakker E, Ippel PF, Oosterwijk JC, et al. Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord. 1999;9:347–351
  33. Mirabella M, Servidei S, Manfredi G, Ricci E, Frustaci A, Bertini E, et al. Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy. Neurology. 1993;43:2342–2345
  34. Weiss RM, Kerber RE, Jones JK, Stephan CM, Trout CJ, Lindower PD, et al. Exercise-induced left ventricular systolic dysfunction in women heterozygous for dystrophinopathy. J Am Soc Echocardiogr. 2010;00:000–000

PII: S0894-7317(10)00545-6

doi: 10.1016/j.echo.2010.06.025

Journal of the American Society of Echocardiography
Volume 23, Issue 8 , Pages 854-856 , August 2010

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