Genetics of dilated cardiomyopathy - PubMed

Review

Genetics of dilated cardiomyopathy

Satu Kärkkäinen et al. Ann Med. 2007.

Free article

Abstract

Dilated cardiomyopathy (DCM) is a myocardial disease characterized by dilatation and impaired systolic function of the left or both ventricles. The etiology of DCM is multifactorial, and many different clinical conditions can lead to the phenotype of DCM. During recent years it has become evident that genetic factors play an important role in the etiology and pathogenesis of idiopathic DCM. The genetics of DCM have been under intensive investigation lately, and thereby the knowledge on the genetic basis of DCM has increased rapidly. The genetic background of the disease seems to be relatively heterogeneous, and the disease-associated mutations concern mostly single families and only few affected patients. Disease-associated mutations have been detected e.g. in genes encoding sarcomere, cytoskeletal, and nuclear proteins, as well as proteins involved with regulation of Ca(2+) metabolism. The mechanisms, by which mutations eventually result in clinical heart failure, are complex and not yet totally resolved. DCM causes considerable morbidity and mortality. Better knowledge of the genetic background and disease-causing mechanisms would probably help us in focusing early treatment on right subjects and potentially also developing new treatment modalities and improving cardiac outcome in the affected patients. This review deals with DCM of genetic origin.

Similar articles

• Inflammatory dilated cardiomyopathy (DCMI).

  Maisch B, Richter A, Sandmöller A, Portig I, Pankuweit S; BMBF-Heart Failure Network. Maisch B, et al. Herz. 2005 Sep;30(6):535-44. doi: 10.1007/s00059-005-2730-5. Herz. 2005. PMID: 16170686 Review.

• [Familial dilated cardiomyopathy: current status and clinical benefits of basic research].

  Castro Beiras A, Monserrat L, Hermida M. Castro Beiras A, et al. Rev Esp Cardiol. 2003;56 Suppl 1:7-12. Rev Esp Cardiol. 2003. PMID: 15626357 Review. Spanish.

• Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy.

  Duboscq-Bidot L, Xu P, Charron P, Neyroud N, Dilanian G, Millaire A, Bors V, Komajda M, Villard E. Duboscq-Bidot L, et al. Cardiovasc Res. 2008 Jan;77(1):118-25. doi: 10.1093/cvr/cvm015. Epub 2007 Sep 19. Cardiovasc Res. 2008. PMID: 18006477

• Structural analysis of four and half LIM protein-2 in dilated cardiomyopathy.

  Arimura T, Hayashi T, Matsumoto Y, Shibata H, Hiroi S, Nakamura T, Inagaki N, Hinohara K, Takahashi M, Manatsu SI, Sasaoka T, Izumi T, Bonne G, Schwartz K, Kimura A. Arimura T, et al. Biochem Biophys Res Commun. 2007 May 25;357(1):162-7. doi: 10.1016/j.bbrc.2007.03.128. Epub 2007 Mar 30. Biochem Biophys Res Commun. 2007. PMID: 17416352

• Titin mutations as the molecular basis for dilated cardiomyopathy.

  Itoh-Satoh M, Hayashi T, Nishi H, Koga Y, Arimura T, Koyanagi T, Takahashi M, Hohda S, Ueda K, Nouchi T, Hiroe M, Marumo F, Imaizumi T, Yasunami M, Kimura A. Itoh-Satoh M, et al. Biochem Biophys Res Commun. 2002 Feb 22;291(2):385-93. doi: 10.1006/bbrc.2002.6448. Biochem Biophys Res Commun. 2002. PMID: 11846417

Cited by

• Alterations in cardiac DNA methylation in human dilated cardiomyopathy.

  Haas J, Frese KS, Park YJ, Keller A, Vogel B, Lindroth AM, Weichenhan D, Franke J, Fischer S, Bauer A, Marquart S, Sedaghat-Hamedani F, Kayvanpour E, Köhler D, Wolf NM, Hassel S, Nietsch R, Wieland T, Ehlermann P, Schultz JH, Dösch A, Mereles D, Hardt S, Backs J, Hoheisel JD, Plass C, Katus HA, Meder B. Haas J, et al. EMBO Mol Med. 2013 Mar;5(3):413-29. doi: 10.1002/emmm.201201553. Epub 2013 Jan 22. EMBO Mol Med. 2013. PMID: 23341106 Free PMC article.

• Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene.

  Budde BS, Binner P, Waldmüller S, Höhne W, Blankenfeldt W, Hassfeld S, Brömsen J, Dermintzoglou A, Wieczorek M, May E, Kirst E, Selignow C, Rackebrandt K, Müller M, Goody RS, Vosberg HP, Nürnberg P, Scheffold T. Budde BS, et al. PLoS One. 2007 Dec 26;2(12):e1362. doi: 10.1371/journal.pone.0001362. PLoS One. 2007. PMID: 18159245 Free PMC article.

• Right into the heart of microRNA-133a.

  Meder B, Katus HA, Rottbauer W. Meder B, et al. Genes Dev. 2008 Dec 1;22(23):3227-31. doi: 10.1101/gad.1753508. Genes Dev. 2008. PMID: 19056878 Free PMC article.

• Efficacy and safety of stem cell therapy in patients with dilated cardiomyopathy: a systematic appraisal and meta-analysis.

  Rong SL, Wang ZK, Zhou XD, Wang XL, Yang ZM, Li B. Rong SL, et al. J Transl Med. 2019 Jul 11;17(1):221. doi: 10.1186/s12967-019-1966-4. J Transl Med. 2019. PMID: 31296244 Free PMC article.

• Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy.

  Roncarati R, Viviani Anselmi C, Krawitz P, Lattanzi G, von Kodolitsch Y, Perrot A, di Pasquale E, Papa L, Portararo P, Columbaro M, Forni A, Faggian G, Condorelli G, Robinson PN. Roncarati R, et al. Eur J Hum Genet. 2013 Oct;21(10):1105-11. doi: 10.1038/ejhg.2013.16. Epub 2013 Mar 6. Eur J Hum Genet. 2013. PMID: 23463027 Free PMC article.

Publication types

MeSH terms

Substances

LinkOut - more resources

• Full Text Sources

  • Atypon

• Miscellaneous

  • NCI CPTAC Assay Portal