Skip to main content

Genetic Counseling in Cardiovascular Conditions

  • Chapter
  • First Online:
Clinical Approach to Sudden Cardiac Death Syndromes

Abstract

The spheres of cardiology and genetics overlap when there is an episode of sudden cardiac death (SCD), because part of the investigation of the incident includes examining possible genetic causes. Inheritance may play a role in the event, and therefore, an important goal in dealing with SCD occurrences is the identification of other at-risk family members, including asymptomatic individuals, before they themselves experience a serious health event.

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

Access this chapter

eBook
USD 16.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 149.00
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. Fraser FC. Genetic counseling. Am J Hum Genet. 1974; 26(5):636-661

    Google Scholar 

  2. Resta R, Biesecker BB, Bennett RL, et al. A new definition of genetic counseling: National Society of Genetic Counselors’ Task Force Report. J Genet Couns. 2006;15(2):77-83

    Article  PubMed  Google Scholar 

  3. Marian AJ, Roberts R. To screen or not is not the question-it is when and how to screen. Circulation. 2003;107(17): 2171-2174

    Article  CAS  PubMed  Google Scholar 

  4. Priori SG, Cerrone M. Molecular genetics: is it making an impact in the management of inherited arrhythmogenic syndromes? Hellenic J Cardiol. 2005;46(2):83-87

    PubMed  Google Scholar 

  5. Kodde J, Hofman N, Reichert CL, et al. Cardio-genetic counseling in a non-university hospital. Neth Heart J. 2007; 15(12):412-414

    Article  CAS  PubMed  Google Scholar 

  6. Ingles J, Semsarian C. Sudden cardiac death in the young: a clinical genetic approach. Internal Med. 2007;37:32-37

    Article  CAS  Google Scholar 

  7. Arking DE, Chugh SS, Chakravarti A, et al. Genomics in sudden cardiac death. Circ Res. 2004;94(6):712-723

    Article  CAS  PubMed  Google Scholar 

  8. Doolan A, Langlois N, Semsarian C. Causes of sudden cardiac death in young Australians. Med J Aust. 2004;180(3): 110-112

    PubMed  Google Scholar 

  9. Tan HL, Hofman N, van Langen IM, et al. Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation. 2005;112(2):207-213

    Article  PubMed  Google Scholar 

  10. Wren C. Screening children with a family history of sudden cardiac death. Heart. 2006;92(7):1001-1006

    Article  PubMed  Google Scholar 

  11. Hofman N, Tan HL, Clur SA, et al. Contribution of inherited heart disease to sudden cardiac death in childhood. Pediatrics. 2007;120(4):e967-e973

    Article  Google Scholar 

  12. Behr ER, Dalageorgou C, Christiansen M, et al. Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. Eur Heart J. 2008;29(13):1670-1680

    Article  PubMed  Google Scholar 

  13. Tester DJ, Ackerman MJ. Sudden infant death syndrome: how significant are the cardiac channelopathies? Cardiovasc Res. 2005;67(3):388-396

    Article  CAS  PubMed  Google Scholar 

  14. Weese-Mayer DE, Ackerman MJ, Marazita ML, et al. Sudden infant death syndrome: review of implicated genetic factors. Am J Med Genet A. 2007;143A(8):771-788

    Google Scholar 

  15. Arnestad M, Crotti L, Rognum TO, et al. Prevalence of long QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007;115(3):361-367

    Article  PubMed  Google Scholar 

  16. Miller TE, Estrella E, Myerburg RJ, et al. Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome. Circulation. 2004;109(24):3029-3034

    Article  PubMed  Google Scholar 

  17. Morales A, Cowan J, Dagua J, Hershberger RE. Family history: an essential tool for cardiovascular genetic medicine. Congest Heart Fail. 2008;14(1):37-45

    Google Scholar 

  18. Taylor MR, Carniel E, Mestroni L. Cardiomyopathy, familial dilated. Orphanet J Rare Dis. 2006;1:27

    Article  PubMed  Google Scholar 

  19. Robin NH, Tabereaux PB, Benza R, et al. Genetic testing in cardiovascular disease. J Am Coll Cardiol. 2007;50(8):727-737

    Article  CAS  PubMed  Google Scholar 

  20. Napolitano C, Priori SG, Schwartz PJ, et al. Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005;294(23):2975-2980

    Article  CAS  PubMed  Google Scholar 

  21. Ingles J, Doolan A, Chiu C, et al. Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counseling. J Med Genet. 2005;42(10):e59

    Article  Google Scholar 

  22. Cowan J, Morales A, Dagua J, Hershberger RE. Genetic testing and genetic counseling in cardiovascular genetic medicine: overview and preliminary recommendations, Congest Heart Fail. 2008;14(2):97-105

    Google Scholar 

  23. American Society of Clinical Oncology Policy Statement Update. Genetic testing for cancer susceptibility. J Clin Onco. 2003;21(12):2397-2406

    Article  Google Scholar 

  24. Zipes DP, Camm AJ, Borggrefe M, et al. ACC/AHA/ESC 2006 Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death - executive summary: a report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (Writing committee to develop Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death). Circulation. 2006;114(10):1088-1132

    Article  Google Scholar 

  25. Sermijn E, Goelen G, Teugels E, et al. The impact of proband mediated information dissemination in families with a BRCA1/2 gene mutation. J Med Genet. 2004;41(3):e23

    Article  Google Scholar 

  26. Forrest LE, Burke J, Bacic S, et al. Increased genetic counseling support improves communication of genetic information in families. Genet Med. 2008;10(3):167-172

    Article  PubMed  Google Scholar 

  27. McGivern B, Everett J, Yager GG, et al. Family communication about positive BRCA1 and BRCA2 genetic test results. Genet Med. 2004;6(6):503-509

    Google Scholar 

  28. DeMarco TA, McKinnon WC. Life after BRCA1/2 testing: family communication and support issues. Breast Dis. 2006-2007;27:127-136

    Google Scholar 

  29. Hallowell N, Foster C, Eeles R, et al. Balancing autonomy and responsibility: the ethics of generating and disclosing genetic information. J Med Ethics. 2003;29(2):74-79; discussion 80-83

    Google Scholar 

  30. Godard B, Hurlimann T, Letendre M, et al. Guidelines for disclosing genetic information to family members: from development to use. Fam Cancer. 2006;5:103-116

    Google Scholar 

  31. Lucassen A, Parker M. Confidentiality and serious harm in genetics - preserving the confidentiality of one patient and preventing harm to relatives. Eur J Hum Genet. 2004;12(2): 93-97

    Article  PubMed  Google Scholar 

  32. Lacroix M, Godard B, Knoppers BM. Warning patients’ relatives of genetic risks: policy approaches. GenEdit 2005; 3:1-8. Available at: www.humgen.umontreal.ca/int/GE/en/2005-3.pdf, Accessed 07-01-08

  33. Recommendations for genetic counseling related to genetic testing (Draft 2) 2007, Available at: http://www.eurogentest.org/web/info/public/unit3/draft_recommendations_genetic_counselling.xhtml, Accessed 12-06-08

  34. Skirton H, Lewis C, Kent A, et al. Core competences in genetics for health professionals in Europe, 2008, Available at: http://www.eurogentest.org/web/info/public/unit6/core_competences.xhtml, Accessed 12-06-08

  35. Burke S, Bennet C, Bedward J, et al. The experiences and preferences of people receiving genetic information from health care professionals, NHS National Genetics Education and Development Centre, 2007, Available at: http://www.geneticseducation.nhs.uk/downloads/genetics_experiences_report.pdf, Accessed 12.06.08

  36. van Langen IM, Birnie E, Leschot NJ, et al. Genetic knowledge and counselling skills of Dutch cardiologists: sufficient for the genomics era? Eur Heart J. 2003;24(6):560-566

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Laura Robb .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2010 Springer-Verlag London

About this chapter

Cite this chapter

Robb, L. (2010). Genetic Counseling in Cardiovascular Conditions. In: Brugada, R. (eds) Clinical Approach to Sudden Cardiac Death Syndromes. Springer, London. https://doi.org/10.1007/978-1-84882-927-5_26

Download citation

  • DOI: https://doi.org/10.1007/978-1-84882-927-5_26

  • Published:

  • Publisher Name: Springer, London

  • Print ISBN: 978-1-84882-926-8

  • Online ISBN: 978-1-84882-927-5

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics