1887
Volume 2012, Issue 1
  • ISSN: 2305-7823
  • E-ISSN:

Abstract

Abstract

The term “cardiomyopathies” was used for the first time 55 years ago, in 1957. Since then awareness and knowledge of this important and complex group of heart muscle diseases have improved substantially. Over these past five decades a large number of definitions, nomenclature and schemes, have been advanced by experts and consensus panel, which reflect the fast and continued advance of the scientific understanding in the field.

Cardiomyopathies are a heterogeneous group of inherited myocardial diseases, which represent an important cause of disability and adverse outcome. Although considered rare diseases, the overall estimated prevalence of all cardiomyopathies is at least 3% in the general population worldwide. Furthermore, their recognition is increasing due to advances in imaging techniques and greater awareness in both the public and medical community.

Cardiomyopathies represent an ideal translational model of integration between basic and clinical sciences. A multidisciplinary approach is therefore essential in order to ensure their correct diagnosis and management.

In the present work, we aim to provide a concise overview of the historical background, genetic and phenotypic spectrum and evolving concepts leading to the various attempts of cardiomyopathy classifications produced over the decades.

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2012-07-03
2019-12-10
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References

  1. Brigden W Uncommon myocardial diseases: the non-coronary cardiomyopathies. Lancet. 1957 Dec. 21; 273::7008, 12431249.
    [Google Scholar]
  2. Goodwin JF, Gordon H, Hollman A and Bishop MB Clinical aspects of cardiomyopathy. Br Med J. 1961 Jan. 14; 1::5219, 6979.
    [Google Scholar]
  3. Report of the WHO/ISFC Task Force on the definition and classification of cardiomyopathies. Br Heart J. 1980;44, 672–673.
  4. Watkins H, Ashrafian H and Redwood C Inherited cardiomyopathies. N Engl J Med. 2011 Apr. 28; 364::17, 16431656.
    [Google Scholar]
  5. Bos JM, Towbin JA and Ackerman MJ Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy. J Am Coll Cardiol. 2009 July 14; 54::3, 201211.
    [Google Scholar]
  6. Richardson P, McKenna W, Bristow M, Maisch B, Mautner B, O’Connell J, Olsen E, Thiene G and Goodwin J Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the definition and classification of cardiomyopathies. Circulation. 1996; 93::841842.
    [Google Scholar]
  7. Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, Moss AJ, Seidman C and Young JB Contemporary definitions and classification of the cardiomyopathies. An American Heart Association scientific statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006; 113::18071816.
    [Google Scholar]
  8. Elliott P, Anderson B, Arbustini E, Bilinska Z, Cecchi F, Charron P, Dubourg O, Kuhl U, Maisch B, McKenna WJ, Monserrat L, Pankuweit S, Rapezzi C, Seferovic P, Tavazzi L and Keren A Classification of cardiomyopathies: a position statement from the European working group on myocardial and pericardial diseases. Eur Heart J. 2008; 29::270276.
    [Google Scholar]
  9. Rapezzi C, Quarta CC, Riva L, Longhi S, Gallelli I, Lorenzini M, Ciliberti P, Biagini E, Salvi F and Branzi A Transthyretin-related amyloidoses and the heart: a clinical overview. Nat Rev Cardiol. 2010 July; 7::7, 398408.
    [Google Scholar]
  10. Jacoby D and McKenna WJ Genetics of inherited cardiomyopathy. Eur Heart J. 2012 Feb.; 33::3, 296304.
    [Google Scholar]
  11. Olivotto I, Girolami F and Ackerman MJ  et al.  Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. Mayo Clin Proc. 2008 June; 83::6, 630638.
    [Google Scholar]
  12. Friedrich FW and Carrier L Genetics of hypertrophic and dilated cardiomyopathy. Curr Pharm Biotechnol. 2012 Jan. 20;[Epub ahead of print] .
    [Google Scholar]
  13. Herman DS, Lam L, Taylor MR, Wang L, Teekakirikul P, Christodoulou D, Conner L, DePalma SR, McDonough B, Sparks E, Teodorescu DL, Cirino AL, Banner NR, Pennell DJ, Graw S, Merlo M, Di Lenarda A, Sinagra G, Bos JM, Ackerman MJ, Mitchell RN, Murry CE, Lakdawala NK, Ho CY, Barton PJ, Cook SA, Mestroni L, Seidman JG and Seidman CE Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012 Feb. 16; 366::7, 619628.
    [Google Scholar]
  14. Olivotto I, Kassem HS and Girolami F. Genetic testing for hypertrophic cardiomyopathy: ongoing voyage from exploration to clinical exploitation. DOI: 10.4081. Cardiogenetics. 2011.e3 Published: 2011-07-05 10:15:10.
  15. Charron P, Arad M, Arbustini E, Basso C, Bilinska Z, Elliott P, Helio T, Keren A, McKenna WJ, Monserrat L, Pankuweit S, Perrot A, Rapezzi C, Ristic A, Seggewiss H, van Langen I and Tavazzi L Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2010; 31::27152726.
    [Google Scholar]
  16. Wang L, Seidman JG and Seidman CE Narrative review: harnessing molecular genetics for the diagnosis and management of hypertrophic cardiomyopathy. Ann Intern Med. 2010; 152::513520.
    [Google Scholar]
  17. Hershberger RE, Lindenfeld J and Mestroni L  et al.  Genetic evaluation of cardiomyopathy- a Heart Failure Society of America practice guideline. J Card Fail. 2009; 15::8397.
    [Google Scholar]
  18. van Langen IM, Birnie E and Leschot NJ  et al.  Genetic knowledge and counselling skills of Dutch cardiologists: sufficient for thegenomics era?. Eur Heart J. 2003; 24::560566.
    [Google Scholar]
  19. Gersh BJ, Maron BJ, Bonow RO, Dearani A, Fifer MA, Link MS, Naidu SS, Nishimura RA, Ommen SR, Rakowski H, Seidman CE, Towbin JA, Udelson JE and Yancy CW ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation. 2011; 124::27612796.
    [Google Scholar]
  20. Maron MS, Olivotto I and Zenovich AG  et al.  Hypertrophic cardiomyopathy is predominantly a disease of left ventricular outflow tract obstruction. Circulation. 2006; 114::21, 22322239.
    [Google Scholar]
  21. Maron BJ Contemporary insights and strategies for risk stratification and prevention of sudden death in hypertrophic cardiomyopathy. Circulation. 2010; 121::445456.
    [Google Scholar]
  22. Girolami F, Ho CY, Semsarian C, Baldi M, Will ML, Baldini K, Torricelli F, Yeates L, Cecchi F, Ackerman MJ and Olivotto I Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. J Am Coll Cardiol. 2010 Apr 6; 55::14, 14441453.
    [Google Scholar]
  23. Schapira AH Mitochondrial diseases. Lancet. 2012 Apr 4;Epub ahead of print .
    [Google Scholar]
  24. Keren A, Syrris P and McKenna W Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression. Nat Clin Pract Cardiovasc Med. Mar. 2008; 5::3, 158168.
    [Google Scholar]
  25. Merlo M, Pyxaras SA, Pinamonti B, Barbati G, Di Lenarda A and Sinagra G Prevalence and prognostic significance of left ventricular reverse remodeling in dilated cardiomyopathy receiving tailored medical treatment. J Am Coll Cardiol. 2011; 57::13, 14681476.
    [Google Scholar]
  26. Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Peterson A, Li D, Jakobs P, Litt M, Porter CB, Rahko PS and Hershberger RE Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. Am Heart J. 2008; 156::161169.
    [Google Scholar]
  27. van Berlo JH, de Voogt WG and van der Kooi AJ  et al.  Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?. J Mol Med. 2005; 83::7983.
    [Google Scholar]
  28. Meune C, Van Berlo JH, Anselme F, Bonne G, Pinto YM and Duboc D Primary prevention of sudden death in patients with lamin A/C gene mutations. N Engl J Med. 2006; 354::209210.
    [Google Scholar]
  29. Mocumbi AO, Yacoub S and Yacoub MH Neglected tropical cardiomyopathies: II. Endomyocardial fibrosis: myocardial disease. Heart. 2008 Mar.; 94::3, 384390.
    [Google Scholar]
  30. Kubo T, Gimeno JR and Bahl A  et al.  Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype. Journal of the American College of Cardiology. June 2007; 49::25, 24192426.
    [Google Scholar]
  31. Zangwill SD, Naftel D, L’Ecuyer T, Rosenthal D, Robinson B, Kirklin JK, Stendahl G and Dipchand AI Pediatric Heart Transplant Study Investigators. Outcomes of children with restrictive cardiomyopathy listed for heart transplant: a multi-institutional study. J Heart Lung Transplant. 2009 Dec; 28::12, 13351340.
    [Google Scholar]
  32. Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA, Calkins H, Corrado D, Cox MG, Daubert JP, Fontaine G, Gear K, Hauer R, Nava A, Picard MH, Protonotarios N, Saffitz JE, Sanborn DM, Steinberg JS, Tandri H, Thiene G, Towbin JA, Tsatsopoulou A, Wichter T and Zareba W Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria. Eur Heart J. 2010; 31::806814.
    [Google Scholar]
  33. Basso C, Bauce B, Corrado D and Thiene G Pathophysiology of arrhythmogenic cardiomyopathy. Nat Rev Cardiol. 2011 Nov 29; 9::4, 223233.
    [Google Scholar]
  34. Ackerman MJ, Priori SG and Willems S  et al.  HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for Channelopathies and Cardiomyopathies. Europace. 2011 Aug; 13::8, 1077109.
    [Google Scholar]
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  • Article Type: Review Article
Keyword(s): cardiomyopathies , classification and myocardial disease
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