Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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A case of Becker muscular dystrophy with early manifestation of cardiomyopathy

  • Doo, Ki-Hyun (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Ryu, Hye-Won (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Kim, Seung-Soo (Department of Pediatrics, Soonchunhyang University College of Medicine) ;
  • Lim, Byung-Chan (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Hwang, Hui (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Kim, Ki-Joong (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Hwang, Yong-Seung (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Chae, Jong-Hee (Department of Pediatrics, Seoul National University College of Medicine)
  • 투고 : 2011.09.15
  • 심사 : 2012.03.23
  • 발행 : 2012.09.15
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초록

An 18-year-old boy was admitted with chest discomfort, nausea, and dyspnea at rest. At the age of 3 years, he underwent muscle biopsy and dystrophin gene analysis owing to an enlarged calf muscle and elevated serum kinase level (6,378 U/L) without overt weakness; based on the results, Becker muscular dystrophy (BMD) was diagnosed. The dystrophin gene showed deletion of exons 45 to 49. He remained ambulant and could step upstairs without significant difficulties. A chest roentgenogram showed cardiomegaly (cardiothoracic ratio, 54%), and his electrocardiogram (ECG) showed abnormal ST-T wave, biatrial enlargement, and left ventricular hypertrophy. The 2-dimensional and M-mode ECGs showed a severely dilated left ventricular cavity with diffuse hypokinesis. The systolic indices were reduced, including fractional shortening (9%) and ejection fraction (19%). Despite receiving intensive medical treatment, he died from congestive heart failure 5 months after the initial cardiac symptoms. We report a case of BMD with early-onset dilated cardiomyopathy associated with deletion of exons 45 to 49. Early cardiomyopathy can occur in BMD patients with certain genotypes; therefore, careful follow-up is required even in patients with mild phenotypes of BMD.

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참고문헌

  1. Koenig M, Monaco AP, Kunkel LM. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 1988;53:219-28. https://doi.org/10.1016/0092-8674(88)90383-2
  2. Hoffman EP, Fischbeck KH, Brown RH, Johnson M, Medori R, Loike JD, et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med 1988;318:1363-8. https://doi.org/10.1056/NEJM198805263182104
  3. Kaspar RW, Allen HD, Ray WC, Alvarez CE, Kissel JT, Pestronk A, et al. Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy. Circ Cardiovasc Genet 2009;2:544-51. https://doi.org/10.1161/CIRCGENETICS.109.867242
  4. McNally EM. Duchenne muscular dystrophy: how bad is the heart? Heart 2008;94:976-7. https://doi.org/10.1136/hrt.2007.138461
  5. Nigro G, Comi LI, Limongelli FM, Giugliano MA, Politano L, Petretta V, et al. Prospective study of X-linked progressive muscular dystrophy in Campania. Muscle Nerve 1983;6:253-62. https://doi.org/10.1002/mus.880060403
  6. Nigro G, Politano L, Nigro V, Petretta VR, Comi LI. Mutation of dystrophin gene and cardiomyopathy. Neuromuscul Disord 1994;4:371-9. https://doi.org/10.1016/0960-8966(94)90073-6
  7. Miyashita H, Ikeda U, Shimada K, Natsume T, Arahata K. Becker muscular dystrophy with early manifestation of left heart failure. Intern Med 1993; 32:408-11. https://doi.org/10.2169/internalmedicine.32.408
  8. Melacini P, Fanin M, Danieli GA, Fasoli G, Villanova C, Angelini C, et al. Cardiac involvement in Becker muscular dystrophy. J Am Coll Cardiol 1993;22:1927-34. https://doi.org/10.1016/0735-1097(93)90781-U
  9. Finsterer J, Stollberger C. Cardiac involvement in Becker muscular dystrophy. Can J Cardiol 2008;24:786-92. https://doi.org/10.1016/S0828-282X(08)70686-X
  10. Saito M, Kawai H, Akaike M, Adachi K, Nishida Y, Saito S. Cardiac dysfunction with Becker muscular dystrophy. Am Heart J 1996;132:642-7. https://doi.org/10.1016/S0002-8703(96)90250-1
  11. Srinivasan R, Hornyak JE, Badenhop DT, Koch LG. Cardiac rehabilitation after heart transplantation in a patient with Becker's muscular dystrophy: a case report. Arch Phys Med Rehabil 2005;86:2059-61. https://doi.org/10.1016/j.apmr.2005.03.036
  12. Melacini P, Fanin M, Danieli GA, Villanova C, Martinello F, Miorin M, et al. Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy. Circulation 1996;94:3168-75. https://doi.org/10.1161/01.CIR.94.12.3168
  13. Nigro G, Comi LI, Politano L, Limongelli FM, Nigro V, De Rimini ML, et al. Evaluation of the cardiomyopathy in Becker muscular dystrophy. Muscle Nerve 1995;18:283-91. https://doi.org/10.1002/mus.880180304
  14. Kirchmann C, Kececioglu D, Korinthenberg R, Dittrich S. Echocardiographic and electrocardiographic findings of cardiomyopathy in Duchenne and Becker-Kiener muscular dystrophies. Pediatr Cardiol 2005;26:66-72. https://doi.org/10.1007/s00246-004-0689-2
  15. Jefferies 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;112:2799-804. https://doi.org/10.1161/CIRCULATIONAHA.104.528281
  16. Yoshida K, Ikeda S, Nakamura A, Kagoshima M, Takeda S, Shoji S, et al. Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy. Muscle Nerve 1993;16:1161-6. https://doi.org/10.1002/mus.880161104
  17. Yu Y, Yamabe H, Fujita H, Inoue T, Yokota Y, Nishio H, et al. Cardiac involvement in a family with Becker muscular dystrophy. Intern Med 1995;34:919-23. https://doi.org/10.2169/internalmedicine.34.919
  18. Ramelli GP, Joncourt F, Luetschg J, Weis J, Tolnay M, Burgunder JM. Becker muscular dystrophy with marked divergence between clinical and molecular genetic findings: case series. Swiss Med Wkly 2006;136:189-93.
  19. Magri F, Govoni A, D'Angelo MG, Del Bo R, Ghezzi S, Sandra G, et al. Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up. J Neurol 2011;258:1610-23. https://doi.org/10.1007/s00415-011-5979-z
  20. Bostick B, Yue Y, Long C, Marschalk N, Fine DM, Chen J, et al. Cardiac expression of a mini-dystrophin that normalizes skeletal muscle force only partially restores heart function in aged Mdx mice. Mol Ther 2009;17:253-61. https://doi.org/10.1038/mt.2008.264
  21. Bushby K, Muntoni F, Bourke JP. 107th ENMC international workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, the Netherlands. Neuromuscul Disord 2003;13:166-72. https://doi.org/10.1016/S0960-8966(02)00213-4

피인용 문헌

  1. Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association vol.136, pp.13, 2012, https://doi.org/10.1161/cir.0000000000000526