Skip Navigation

European Heart Journal 2000 21(22):1825-1832; doi:10.1053/euhj.2000.2173
Copyright © 2000 by the European Society of Cardiology.
This Article
Right arrow FREE Full Text (PDF) Freely available
Right arrow E-letters: Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when E-letters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (5)
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Arbustini, E.
Right arrow Articles by Tavazzi, L.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Arbustini, E.
Right arrow Articles by Tavazzi, L.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Clinical Perspective

Familial dilated cardiomyopathy: from clinical presentation to molecular genetics

E. Arbustinia,f1, P. Morbinia, A. Pilottoa, A. Gavazzib and L. Tavazzia

a Molecular Diagnostic and Cardiovascular Pathology Department, IRCCS Policlinico S. Matteo, Pavia, Italy
b Cardiology Department, IRCCS Policlinico S. Matteo, Pavia, Italy

revised February 1, 2000; accepted March 1, 2000

f1 Correspondence: Eloisa Arbustini, Cardiovascular Pathology and Molecular Diagnostic Laboratory, Pathology Institute, IRCCS Policlinico San Matteo, Via Forlanini, 16, 27100 Pavia, Italy.

References

  1. Towbin JA, Ejtmancik JF, Brink P. X-linked dilated cardiomyopathy: molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Wp21 locus. Circulation. 1993;87:1854–1865[Abstract/Free Full Text]
  2. Muntoni F, Cau M, Congiu R. Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. N Engl J Med. 1993;329:921–923[Free Full Text]
  3. Milasin J, Muntoni F, Severini GM. A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. Hum Mol Genet. 1996;5:73–79[Abstract/Free Full Text]
  4. Bies RD, Maeda M, Roberds SL. A 5' dystrophin duplication mutation causes membrane deficiency of alpha-dystroglycan in a family with X-linked cardiomyopathy. J Mol Cell Cardiol. 1997;29:3175–3188[CrossRef][Web of Science][Medline]
  5. Yoshida K, Nakamura A, Yazaki M, Ikeda S, Takeda S. Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy. Hum Mol Genet. 1998;7:1129–1132[Abstract/Free Full Text]
  6. Ferlini A, Galié N, Merlini L, Sewry C, Branzi A, Muntoni F. A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy. Am J Hum Genet. 1998;63:436–446[CrossRef][Web of Science][Medline]
  7. Ortiz-lopez R, Li H, Su J, Giytia V, Towbin J. Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy. Circulation. 1997;95:2434–2440[Abstract/Free Full Text]
  8. Muntoni F, Di Lenarda A, Porcu M. Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy. Heart. 1997;78:608–612[Abstract/Free Full Text]
  9. Palmucci L, Doriguzzi C, Mongini T. Dilating cardiomyopathy as the expression of Xp21 Becker type muscular dystrophy. J Neurol Sci. 1992;111:218–221[CrossRef][Web of Science][Medline]
  10. Piccolo G, Azan G, Tonin P. Dilated cardiomyopathy requiring cardiac transplantation as initial manifestation of Xp21 Becker type muscular dystrophy. Neuromusc Disord. 1994;4:143–146[CrossRef][Web of Science][Medline]
  11. Arbustini E, Diegoli M, Morbini P. Prevalence and characteristics of dystrophin defects in adult male patients with dilated cardiomyopathy. J Am Coll Cardiol. 2000;35:1760–1768[Abstract/Free Full Text]
  12. Nigro G, Politano L, Nigro V, Petretta V, Comi G. Mutation of dystrophin gene and cardiomyopathy. Neuromusc Disord. 1994;4:371–379[CrossRef][Web of Science][Medline]
  13. Sakamoto A, Ono K, Abe M. Both hypertrophic and dilated cariomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster: an animal model of disrupted dystrophin-associated glycoprotein complex. Proc Natl Acad Sci USA. 1997;94:13873–13878[Abstract/Free Full Text]
  14. DiMauro S, Tanji K. Mitochondrial disorders. Jpn J Human Genet. 1997;42:473–487
  15. Wallace DC. Report of the Committee on human mitochondrial DNA. Cytogenet Cell Genet. 1989;51:612–621[Web of Science][Medline]
  16. Santorelli FM, Tanji K, Manta P. Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation. Am J Hum Genet. 1999;64:295–300[CrossRef][Web of Science][Medline]
  17. Arbustini E, Diegoli M, Fasini R. Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy. Am J Pathol. 1998;153:1510–1516
  18. Arbustini E, Fasani R, Morbini P. Coexistence of mitochondrial DNA and beta-myosin heavy chain mutations in hypertrophic cardiopathy with late congestive heart failure. Heart. 1998;80:548–558[Abstract/Free Full Text]
  19. Anderson S, Bankier AT, Barrell BG. Sequence and organization of the human mitochondrial genome. Nature. 1981;290:457–465[CrossRef][Medline]
  20. Marques JS. Dilated cardiomyopathy caused by plasma membrane carnitine transport defect. J Inherit Metab Dis. 1998;21:428–429[CrossRef][Web of Science][Medline]
  21. Nezu J, Tamai I, Oku A. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. Nat Genet. 1999;21:91–94[CrossRef][Web of Science][Medline]
  22. Rocchiccioli F, Wanders RJ, Aubourg P. Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood. Pediatr Res. 1990;28:657–662[Web of Science][Medline]
  23. Bonnet D, Martin D, Pascale De Lonlay. Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation. 1999;100:2248–2253[Abstract/Free Full Text]
  24. Bennett MJ, Hale DE, Pollitt RJ, Stanley CA, Variend S. Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter. Clin Cardiol. 1996;19:243–246[Web of Science][Medline]
  25. Cox GF, Souri M, Aoyama T. Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr. 1998;133:247–253[CrossRef][Web of Science][Medline]
  26. D'Adamo P, Fassone L, Gedeon A. The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am J Hum Genet. 1997;61:862–867[Web of Science][Medline]
  27. Arbustini E, Grasso M, Pucci A. H and L ferritins in myocardium of iron overload patients. An immunohistochemical study. Am J Cardiol. 1991;68:1233–1236[CrossRef][Web of Science][Medline]
  28. Camaschella C, Roetto A, Cicilano M. Juvenile and adult hemochromatosis are distinct genetic disorders. Eur J Hum Genet. 1997;5:371–375[Web of Science][Medline]
  29. Bione S, Maestrini E, Rivella S. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet. 1994;8:323–327[CrossRef][Web of Science][Medline]
  30. Cartegni L, di Barletta MR, Barresi R. Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy. Hum Mol Genet. 1997;6:2257–2264[Abstract/Free Full Text]
  31. Sabatelli P, Squarzoni S, Petrini S. Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers. Neuromusc Disord. 1998;8:67–71
  32. Messina DN, Speer MC, Pericak-Vance MA, McNally EM. Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Am J Hum Genet. 1997;61:909–917[Web of Science][Medline]
  33. Kass S, MacRae C, Graber HL. A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1-1q1. Nat Genet. 1994;7:546–551[CrossRef][Web of Science][Medline]
  34. Fatkin D, MacRae C, Sasaki T. 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[Abstract/Free Full Text]
  35. Bonne G, Di Barletta MR, Varnous S. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet. 1999;21:285–288[CrossRef][Web of Science][Medline]
  36. Arbustini E, Morbini P, Grasso M. Restrictive cardiomyopathy, atrio-ventricular block and mild to subclinical myopathy in patients with desmin-immunoreactive material deposits. J Am Coll Cardiol. 1998;31:645–653[Abstract/Free Full Text]
  37. Vicart P, Dupret JM, Hazan J. Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy. Hum Genet. 1996;98:422–429[CrossRef][Web of Science][Medline]
  38. Vicart P, Caron A, Guicheney P. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet. 1998;20:92–95[CrossRef][Web of Science][Medline]
  39. Goldfarb LG, Park KY, Cervenakova L. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet. 1998;19:402–403[CrossRef][Web of Science][Medline]
  40. Li D, Tapscoft T, Gonzalez O. Desmin mutation responsible for idiopathic dilated cardiomyopathy. Circulation. 1999;100:461–464[Abstract/Free Full Text]
  41. Bowles KR, Gajarski R, Porter P. Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21–23. J Clin Invest. 1996;98:1355–1360[Web of Science][Medline]
  42. Durand JB, Bachinski LL, Bieling LC. Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32. Circulation. 1995;92:3387–3389[Abstract/Free Full Text]
  43. Olson TM, Keating MT. Mapping a cardiomyopathy locus to chromosome 3p22–p25. J Clin Invest. 1996;97:528–532[Web of Science][Medline]
  44. Krajinovic M, Pinamonti B, Sinagra G. Linkage of familial dilated cardiomyopathy to chromosome 9. Heart Muscle Disease Study Group. Am J Hum Genet. 1995;57:846–852[Web of Science][Medline]
  45. Jung M, Poepping I, Perrot A. Investigation of Family with Autosomal Dominant Dilated Cardiomyopathy. Defines a Novel Locus on Chromosome 2q14–q22. Am J Hum Genet. 1999;65:1068–1077[CrossRef][Web of Science][Medline]
  46. Siu BL, Niimura H, Osborne JA. Familial dilated cardiomyopathy locus maps to chromosome 2q31. Circulation. 1999;99:1022–1026[Abstract/Free Full Text]
  47. Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science. 1998;280:750–752[Abstract/Free Full Text]
  48. Mogensen J, Klausen IC, Pedersen AK. Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J Clin Invest. 1999;103:R39–43[Medline]
  49. Takai E, Akita H, Shiga N. Mutational analysis of the cardiac actin gene in familial and sporadic dilated cardiomyopathy. Am J Med Genet. 1999;86:325–327[CrossRef][Web of Science][Medline]
  50. Mayosi BM, Khogali S, Zhang B, Watkins H. Cardiac and skeletal actin gene mutations are not a common cause of dilated cardiomyopathy. J Med Genet. 1999;36:796–797[Free Full Text]

Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 J Am Coll CardiolHome page
E. L. Burkett and R. E. Hershberger
Clinical and genetic issues in familial dilated cardiomyopathy
J. Am. Coll. Cardiol., April 5, 2005; 45(7): 969 - 981.
[Abstract] [Full Text] [PDF]

Home page
 Eur Heart JHome page
E. Villard, L. Duboscq-Bidot, P. Charron, A. Benaiche, V. Conraads, N. Sylvius, and M. Komajda
Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene
Eur. Heart J., April 2, 2005; 26(8): 794 - 803.
[Abstract] [Full Text] [PDF]

This Article
Right arrow FREE Full Text (PDF) Freely available
Right arrow E-letters: Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when E-letters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (5)
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Arbustini, E.
Right arrow Articles by Tavazzi, L.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Arbustini, E.
Right arrow Articles by Tavazzi, L.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?