End-stage cardiac disease as an initial presentation of systemic myopathies: Case series and literature review

Journal of Child Neurology

Volumn 25, Issue 11, 2010, Pages 1382-1388

  Katzberg, Hans ^a   Karamchandani, Jason ^b   So, Yuen T ^a   Vogel, Hannes ^b   Wang, Ching H ^a  

^a STANFORD UNIVERSITY MEDICAL CENTER   (United States)

^b STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

cardiomyopathy; muscular dystrophy; myopathy

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BECKER MUSCULAR DYSTROPHY; CARDIOMYOPATHY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CYTOCHROME C OXIDASE DEFICIENCY; DANON DISEASE; FEMALE; GLYCOGEN STORAGE DISEASE; HEART TRANSPLANTATION; HUMAN; HUMAN TISSUE; MALE; MITOCHONDRIAL MYOPATHY; MUSCLE BIOPSY; MYOFIBRILLAR MYOPATHY; MYOPATHY; NEUROLOGIC EXAMINATION; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; CARDIOMYOPATHIES; CHILD; CHILD, PRESCHOOL; FEMALE; HEART TRANSPLANTATION; HUMANS; INFANT, NEWBORN; MALE; MUSCULAR DISEASES; YOUNG ADULT;

EID: 78650224404     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073810367683     Document Type: Article

References (55)

1. Finsterer J., Stöllberger C. Cardiac involvement in primary myopathies. Cardiology. 2000 ; 94: 1-11.
2. Finsterer J., Stöllberger C. Primary myopathies and the heart. Scand Cardiovasc J. 2008 ; 42: 19-24.
3. Dalakas M., Park KY, Semino-Mora C., et al. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N Eng J Med. 2000 ; 342: 770-780. (Pubitemid 30151921)
4. Arbustini E., Pasotti M., Pilloto A., et al. Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects. Eur J Heart Fail. 2006 ; 8: 477-483.
5. Li D., Tapscoft T., Gonzalez O., et al. Desmin mutation responsible for idiopathic dilated cardiomyopathy. Circulation. 1999 ; 100: 461-464.
6. Miyamoto Y., Akita H., Shiga N., et al. Frequency and clinical characteristics of dilated cardiomyopathy caused by desmin gene mutation in a Japanese population. Eur Heart J. 2001 ; 22: 2284-2289.
7. Debray FG, Lambert M., Chevalier I., et al. Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases. Pediatrics. 2007 ; 119: 722-733.
8. Holmgren D., Wahlander H., Eriksson BO, et al. Cardiomyopathy in children with mitochondrial disease. Eur Heart J. 2003 ; 24: 280-288.
9. Casali C., Santorelli FM, D'Amati G., et al. A novel mtDNA point mutation in maternally inherited cardiomyopathy. Biochem Biophys Res Commun. 1995 ; 213: 588-593.
10. Santorelli FM, Tessa A., D'Amati G., Casali C. The emerging concept of mitochondrial cardiomyopathies. Am Heart J. 2001 ; 141: 1-14.
11. Taylor RW, Giordano C., Davidson MM, et al. A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. J Am Coll Cardiol. 2003 ; 41: 1786-1796.
12. Fatkin D., MacRae C., Sasaki T., et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med. 1999 ; 341: 1715-1724.
13. Donato S. Multisystemic manifestations of mitochondrial myopathy. J Neurol. 2009 ; 256: 693-710.
14. Premawardhana LD, Thirunavakarasu G. Myotonia dystrophica-first presentation as severe left ventricular failure complicating dilated cardiomyopathy. Postgrad Med J. 1992 ; 68: 67.
15. Payne CA, Greenfield JC Electrocardiographic abnormalities associated with myotonic dystrophy. Am Heart J. 1963 ; 65: 436.
16. Bundey S., Carter CO, Soothill JF Early recognition of heterozygotes for the gene for dystrophia myotonica. J Neurol Neurosurg Psychiat. 1970 ; 33: 279.
17. Ishigaki C., Patria SY, Nishio H., et al. 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.
18. Cox GF, Kunkel LM Dystrophies and heart disease. Curr Opin Cardiol. 1997 ; 12: 329-335.
19. 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.
20. Labrune P., Huguet P., Odievre M. Cardiomyopathy in glycogen-storage disease type III: clinical and echographic study of 18 patients. Pediatr Cardiol. 1991 ; 12: 161-163.
21. Rossignol AM, Meyer M., Rossignol B., et al. La myocardiopathie de la glycogenose de type III. Arch Fr Pediatr. 1986 ; 36: 303-309.
22. Olson LJ, Reeder GS, Noller KL, et al. Cardiac involvement in glycogen storage disease type III: morphologic and biochemical characterization with endomyocardial biopsy. Am J Cardiol. 1984 ; 53: 980-981.
23. Dworzak F., Casazza F., Mora M., et al. Lysosomal glycogen storage with normal acid maltase: a familial study with successful heart transplant. Neuromuscul Disord. 1994 ; 4: 243-247.
24. Winkel LP, Hagemans M., van Doorn PA, et al. The natural course of non-classic Pompe's disease; a review of 225 published cases. J Neurol. 2005 ; 252: 875-884.
25. Yamak AA, Bitar F., Karam P., Nemer G. Exclusive cardiac dysfunction in familial primary carnitine deficiency cases: a genotype-phenotype correlation. Clinic Genet. 2007 ; 72: 59-62.
26. Tang NL, Hwu WL, Chan RT, et al. A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients. Hum Mutat. 2002 ; 20: 232.
27. Melegh B., Bene J., Mogyorosy G., et al. Phenotypic manifestations of the OCTN2 V295X mutation: sudden infant death and carnitine-responsive cardiomyopathy in Roma families. Am J Med Genet A. 2004 ; 131: 121-126.
28. D'Adamo P., Fassone L., Gedeon A., et al. The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am J Hum Genet. 1997 ; 61: 862-867.
29. Chen R., Tsuji T., Ichida F., et al. Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction. Mol Genet Metabol. 2002 ; 77: 319-325.
30. Bleyl SB, Mumford BR, Thompson V., et al. Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. Am J Hum Genet. 1997 ; 61: 868-872.
31. Tsuji M., Kinoshita M., Imai Y., et al. Facioscapulohumeral muscular dystrophy presenting with hypertrophic cardiomyopathy: a case study. Neuromuscul Disord. 2009 ; 19: 140-142.
32. Fujita K., Nakano S., Yamamoto H., et al. An adult case of congenital fiber type disproportion (CFTD) with cardiomyopathy. Rinsho Shinkeigaku. 2005 ; 45: 380-382.
33. Oechslin E., Kaup D., Jenni R. Cardiac abnormalities in McLeod syndrome. Int J Cardiol. 2009 ; 132: 130-134.
34. Walker RH, Jung HH, Tison F., et al. Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome. Mov Disord. 2007 ; 22: 244-248.
35. Arad M., Maron BJ, Gorham JM, et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med. 2005 ; 352: 362-372.
36. Furuta K., Yang XL, Chen J., et al. Differential expression of the lysosomal-associated membrane proteins in normal human tissues. Arch Biochem Biophys. 1999 ; 365: 75-82.
37. Connuck DM, Sleeper LA, Colan SD, et al. Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: a comparative study from the Pediatric Cardiomyopathy Registry. Am Heart J. 2008 ; 155: 998-1005.
38. Arimura T., Hayashi T., Kimura A. Molecular etiology of idiopathic cardiomyopathy. Acta Myol. 2007 ; 26: 153-158.
39. Kimura A. Mutations in genes for sarcomeric proteins. Nippon Rinsho. 2000 ; 58: 117-122.
40. Kaski P., Syrris M., Burch M-T., et al. Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere genes. Heart. 2008 ; 94: 1478-1484.
41. El-Menyar AA, Al-Suwaidi J., Gehani AA, Bener A. Clinical and histologic studies of a Qatari family with myofibrillar myopathy. Saudi Med J. 2004 ; 25: 1723-1726.
42. Kostareva A., Gudkova A., Sjoberg G., et al. Desmin mutations in a St. Petersburg cohort of cardiomyopathies. Acta Myol. 2006 ; 25: 109-115.
43. Selcen D., Engel AG Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol. 2005 ; 57: 269-276.
44. Cuspidi C., Sampieri L., Pelizzoli S., et al. Obstructive hypertrophic cardiomyopathy in type III glycogen-storage disease. Acta Cardiol. 1997 ; 52: 117-123.
45. Toyota H., Kurokawa S., Tanaka H., et al. Case of glycogenosis III with marked fibrosis of the myocardium and cardiac failure. Nippon Naika Gakkai Zasshi. 1992 ; 81: 583.
46. Comi GP, Prelle A., Bresonlin N., et al. Clinical variability in Becker muscular dystrophy. Genetic, biochemical, and immunohistochemical correlates. Brain. 1994 ; 117: 1-14.
47. 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.
48. 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.
49. Hopkins LC, Jackson JA, Elsas LJ Emery-Dreifuss humeroperoneal muscular dystrophy: an X-linked myopathy with unusual contractures and bradycardia. Ann Neurol. 1981 ; 10: 230-237.
50. Fishbein MC, Siegel RJ, Thompson CE, Hopkins LC Sudden death of a carrier of X-linked Every-Dreifuss muscular dystrophy. Ann Intern Med. 1993 ; 119: 900-905.
51. San Filippo AC, Taylor MR, Mestroni L., et al. Cardiomyopathy and carnitine deficiency. Mol Genet Metab. 2008 ; 94: 162-166.
52. Spiekerkoetter U., Huener G., Baykal T., et al. Screening for carnitine palmitoyltransferase II deficiency by primary systemic carnitine deficiency. Hum Mutat. 2002 ; 15: 118.
53. Wang Y., Korman SH, Ye J., et al. Phenotype and genotype variation in primary carnitine deficiency. Genet Med. 2001 ; 3: 387-392.
54. Stanley CA, Bennett MJ, Mayatepek E. Disorders of fatty acid oxidation and related metabolic pathways. In: Fernandes J, Saudubray JM, van Den Berghe G, Walter JH, eds. Inborn Metabolic Disease Diagnostic and Treatment. New York, NY: Springer, Heidelberg ; 2006: 177-188.
55. Tein I., Di Mauro S. Primary systemic carnitine deficiency manifested by carnitine-responsive cardiomyopathy. In: Ferrari R, Di Mauro S, Sherwood G, eds. L-Carnitine and Its Role in Medicine: From Function to Therapy. San Diego, CA: Academic Press; 1992: 155-183.