Skip to main content

Abstract

Cardiomyopathies (CMPs) are myocardial disorders in which the heart muscle is structurally and functionally abnormal in the absence of conditions such as coronary artery disease, hypertension or valvular disease, sufficient to cause the observed myocardial abnormalities [1]. The disease may be localized involving the myocardium only or predominantly (“primary CMPs” in the classification by Maron et al. [2]) or it may be associated, in a complex form, with systemic multi-organ disorders (“secondary CMPs”) [2]. When considering the etiology, many CMPs have a genetic origin, some are acquired (inflammation, alcohol, drugs, etc.), while others may have a mixed origin [2]. In recent years researchers have identified the genetic background of many diseases involving the myocardium, and many CMPs are considered to have a genetic origin. New problems and new responsibilities need to be considered by the clinical cardiologist in this emerging medical field, in which the goal is to provide a precise diagnosis, stratify the risk and treat patients correctly, and advise them on personal and family choices.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 129.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 109.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Elliott P, Andersson B, Arbustini E et al (2008) Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 29:270–276. doi: 10.1093/eurheartj/ehm342

    Article  PubMed  Google Scholar 

  2. Maron BJ, Towbin JA, Thiene G et al (2006) 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 113:1807–1816. doi:10.1161/circulationaha.106.174287

    Article  PubMed  Google Scholar 

  3. Watkins H, Ashrafian H, McKenna WJ (2008) The genetics of hypertrophic cardiomyopathy: Teare redux. Heart 94:1264–1268. doi:10.1136/hrt.2008.154104

    Article  PubMed  CAS  Google Scholar 

  4. Wang L, Seidman JG, Seidman CE (2010) Narrative review: harnessing molecular genetics for the diagnosis and management of hypertrophic cardiomyopathy. Ann Intern Med 152:513–520, W181.doi:10.1059/0003-4819-152-8-201004200-00008

    PubMed  Google Scholar 

  5. Hershberger RE, Cowan J, Morales A, Siegfried JD (2009) Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Heart Fail 2:253–261. doi:10.1161/CIRC-HEARTFAILURE.108.817346

    Article  PubMed  Google Scholar 

  6. Sinagra G, Di Lenarda A, Moretti M et al (2008) The challenge of cardiomyopathies in 2007. J Cardiovasc Med (Hagerstown) 9:545–554. doi:10.2459/JCM.0b013e3282f2c9f9

    Article  Google Scholar 

  7. Sylvius N, Tesson F (2006) Lamin A/C and cardiac diseases. Curr Opin Cardiol 21:159–165. doi:10.1097/01.hco.0000221575.33501.58

    Article  PubMed  Google Scholar 

  8. The SOLVD Investigators (1992) Effect of enalapril on mortality and the development of heart failure in asymptomatic patients with reduced left ventricular ejection fractions. N Engl J Med 327:685–691. doi:10.1056/NEJM199209033271003

    Article  Google Scholar 

  9. Sakata K, Shimizu M, Ino H et al (2005) High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene. Circulation 111:3352–3358. doi:10.1161/CIRCULATIONAHA.104.527184

    Article  PubMed  Google Scholar 

  10. Bonne G, Levy N (2003) LMNA mutations in atypical Werner’s syndrome. Lancet 362:1585–1586; author reply 1586. doi:10.1016/S0140-6736(03)14761-7

    Article  PubMed  Google Scholar 

  11. Meune C, Van Berlo JH, Anselme F, Bonne G, Pinto YM, Duboc D (2006) Primary prevention of sudden death in patients with lamin A/C gene mutations. N Engl J Med 354:209–210. doi: 10.1056/NEJMc052632

    Article  PubMed  CAS  Google Scholar 

  12. Corrado D, Leoni L, Link MS et al (2003) Implantable cardioverter-defibrillator therapy for prevention of sudden death in patients with arrhythmogenic right ventricular cardiomyopa-thy/dysplasia. Circulation 108:3084–3091. doi:10.1161/01.CIR.0000103130.33451.D2

    Article  PubMed  Google Scholar 

  13. Arbustini E, Pilotto A, Repetto A et al (2002) Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. J Am Coll Cardiol 39:981–990

    Article  PubMed  CAS  Google Scholar 

  14. Taylor MR, Fain PR, Sinagra G et al (2003) Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. J Am Coll Cardiol 41:771–780

    Article  PubMed  CAS  Google Scholar 

  15. Sylvius N, Bilinska ZT, Veinot JP et al (2005) In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients. J Med Genet 42:639–647. doi:10.1136/jmg.2004.023283

    Article  PubMed  CAS  Google Scholar 

  16. Hershberger RE, Lindenfeld J, Mestroni L et al (2009) Genetic evaluation of cardiomyopa-thy-a Heart Failure Society of America practice guideline. J Card Fail 15:83–97. doi:10.1016/j.cardfail.2009.01.006

    Article  PubMed  Google Scholar 

  17. Online Mendelian inheritance in man. http://www.omim.org/. Accessed 18 May 2012

  18. Cirino AL, Ho C (2011) Familial hypertrophic cardiomyopathy overview. In: Pagon RA, Bird TD, Dolan CR et al (eds) GeneReviews. University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/books/NBK1768/. Accessed 18 May 2012

    Google Scholar 

  19. Kapplinger JD, Landstrom AP, Salisbury BA et al (2011) Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. J Am Coll Cardiol 57:2317–2327

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Gianfranco Sinagra .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2013 Springer-Verlag Italia

About this chapter

Cite this chapter

Camerini, F., Sinagra, G., Mestroni, L. (2013). Introduction. In: Sinagra, G., Mestroni, L., Camerini, F. (eds) Genetic Cardiomyopathies. Springer, Milano. https://doi.org/10.1007/978-88-470-2757-2_1

Download citation

  • DOI: https://doi.org/10.1007/978-88-470-2757-2_1

  • Publisher Name: Springer, Milano

  • Print ISBN: 978-88-470-2756-5

  • Online ISBN: 978-88-470-2757-2

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics