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Genetic testing in cardiac disease: from bench to bedside

Nature Clinical Practice Cardiovascular Medicine volume 3, pages 462–463 (2006)Cite this article

Over the past 15 years, breakthroughs in basic science have revealed the genetic etiology for several inherited cardiovascular diseases.1,2 By studying instructive monogenic diseases, including hypertrophic cardiomyopathy (HCM), and long QT syndrome (LQTS), we have gained valuable insight into critical molecular pathways involved in cardiac remodeling, inherited susceptibility to sudden cardiac death (SCD), and arrhythmias. Since the underlying genetic defects in these monogenic diseases are typically simple base-pair substitutions, mutations can be easily identified by DNA sequence analysis. Although genetic testing for HCM and LQTS is now clinically available, how can genetic testing for heritable cardiovascular disorders improve the care of our patients?

An ideal genetic test would be inexpensive, and provide a definitive diagnosis and valuable information to predict prognosis and tailor treatment. Unfortunately, this is often not the case for the tests now available. As genetic testing moves from the research laboratory into clinical practice, many important issues must be considered to determine how these tests are best applied. Diagnostic yield, clinical impact and the emotional and medical implications for individuals and their families will all affect the value of a test for each patient.

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References

  1. Maron BJ 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

    Article  Google Scholar 

  2. Priori SG and Napolitano C (2006) Role of genetic analyses in cardiology part 1: mendelian diseases: cardiac channelopathies. Circulation 113: 1130–1135

    Article  Google Scholar 

  3. Maron BJ et al. (1995) Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. Circulation 92: 785–789

    Article  CAS  Google Scholar 

  4. Harvard Partners Center for Genetics and Genomics Laboratory for Molecular Medicine: Hypertrophic Cardiomyipathy Genetic Test. [http://www.hpcgg.org/LMM/comment/HCM%20Info%20Sheet.htm]

  5. Richard P et al. (2003) Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 107: 2227–2232

    Article  Google Scholar 

  6. Schwartz PJ et al. (2001) Genotype-phenotype correlation in the long QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation 103: 89–95

    Article  CAS  Google Scholar 

  7. Priori SG et al. (2004) Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers. JAMA 292: 1341–1344

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. genetics counselor and program, Brigham and Women's Hospital, Boston, MA, USA

    Allison L Cirino & Carolyn Y Ho

  2. the Medical Director of the Cardiovascular Genetics Center of the Cardiovascular Division, Brigham and Women's Hospital, Boston, MA, USA

    Allison L Cirino & Carolyn Y Ho

Authors
  1. Allison L Cirino
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  2. Carolyn Y Ho
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Correspondence to Carolyn Y Ho.

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The authors declare no competing financial interests.

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Cirino, A., Ho, C. Genetic testing in cardiac disease: from bench to bedside. Nat Rev Cardiol 3, 462–463 (2006). https://doi.org/10.1038/ncpcardio0654

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