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Genetic Counseling and Testing for Hypertrophic Cardiomyopathy: An Adult Perspective

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Abstract

Hypertrophic cardiomyopathy (HCM) is considered to be a genetic disease. As such, multidisciplinary approach is needed to evaluate and treat this condition. We present several patient vignettes to illustrate the complementary skills of cardiologists and genetic counselors in providing comprehensive care. Translational application of research will continue to expand as more genetic causes of HCM will be recognized and more genetic tests will become available. Now is the opportunity to build a strong collaboration between the two disciplines to be prepared for the era of personalized medicine.

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References

  1. Braunwald, E., Morrow, A. G., Cornell, W. P., et al. (1960). Idiopathic hypertrophic subaortic stenosis: clinical, hemodynamic and angiographic manifestations. Am J Med, 29, 924–945.

    Article  Google Scholar 

  2. Bos Martijn, J., Towbin, J. A., & Ackerman, M. J. (2009). Diagnostic, prognostic, and therapeutic indication of genetic testing for hypertrophic cardiomyopathy. JACC, 54, 201–211.

    CAS  PubMed  Google Scholar 

  3. Fellgiebel, A., Muller, M. J., & Ginsberg, L. (2006). CNS manifestations of Fabry’s disease. The Lancet Neurology, 5, 791–796.

    Article  Google Scholar 

  4. Frenneaux Michael, P. (2004). Assessing the risk of sudden cardiac death in a patient with hypertrophic cardiomyopathy. Heart, 90, 570–575.

    Article  CAS  PubMed  Google Scholar 

  5. Hendriks Karin, S. W. H., Hendriks, M. M. W. B., Birnie, E., et al. (2008). Familial disease with a risk of sudden death: a longitudinal study of the psychological consequences of predictive testing for long QT syndrome. Heart Rhythm, 5(5), 719–724.

    Article  CAS  PubMed  Google Scholar 

  6. Hershberger Ray, E., Lindenfeld, J., Mestroni, L., Seidman, C. E., Taylor, M. R. G., & Towbin, J. A. (2009). Genetic evaluation of cardiomyopathy—a Heart Failure Society of America practice guideline. J of Cardiac Failure, 15(2), 83–97.

    Article  CAS  Google Scholar 

  7. Ingles, J., Doolan, A., Chiu, C., Seidman, J., Seidman, C., & Semsarian, C. (2005). Compound and double mutations in patients with hypertrophic cardiomyopathy: implication for genetic testing and counseling. J Med Genetics, 42, e59.

    Article  CAS  Google Scholar 

  8. Kampmann, C., Baehner, F., Whybra, C., Martin, C., Wiethoff, C. M., Ries, M., et al. (2002). Cardiac manifestations of Anderson–Fabry disease in heterozygous females. J Am Coll Cardilogy, 40, 1668–1674.

    Article  Google Scholar 

  9. Kofflard Marcel, J. M., Folkert, J. T., van der Lee, C., & van Domburg, R. T. (2003). Hypertrophic cardiomyopathy in a large community based population: clinical outcome and identification of risk factors for sudden cardiac death and clinical deterioration. J Am Coll Cardiology, 41(6), 987–993.

    Article  CAS  Google Scholar 

  10. Maron Barry, J., Seidman, J. G., & Seidman, C. E. (2004). Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy. J Am Coll Cardiology, 44, 2125–2132.

    Article  CAS  Google Scholar 

  11. Mehta Atul and Hughes DA, Fabry Disease, GeneReviews (updated 2008) www.genetests.org

  12. Morita, Hiroyuki, Rehm, H. L., Menesses, A., et al. (2008). Shared genetic causes of cardiac hypertrophy in children and adults. NEJM, 358(18), 1899–1908.

    Article  CAS  PubMed  Google Scholar 

  13. Robertson PJ, Kay GN, Warnock, DG, Jackson l, Tallaj J (2009) Arrhythmias and Implantable cardioverter defibrillators in Fabry cardiomyopathy, The Journal of Heart and Lung Transplantation 28 (2) Supplement, abstract # 94

  14. Sorajja, P., Elliott, P. M., & McKenna, W. J. (2000). The molecular genetics of hypertrophic cardiomyopathy: prognostic implications. Europace, 2, 4–14.

    Article  CAS  PubMed  Google Scholar 

  15. Van Driest Sara, L., Vasile, V. C., Ommen, S. R., Will, M. L., Tajik, A. J., Gersh, B. J., et al. (2004). Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. J Am Coll Cardiology, 44(9), 1903–1190.

    Article  Google Scholar 

  16. Wang Raymond, Y., Lelis, A., Mirocha, J., & Wilcox, W. R. (2007). Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Medicine, 9(1), 34–45.

    Article  CAS  Google Scholar 

  17. Zarate Yuri, A., & Hopkin, R. J. (2008). Fabry’s disease. The Lancet, 372, 1427–1435.

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Departments of Medicine and Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA

    Cécile Skrzynia

  2. Children’s Healthcare of Atlanta-Sibley Heart Center Cardiology, Emory University, Atlanta, GA, USA

    Erin M. Demo

  3. Laboratory for Molecular Medicine, Partners Center for Personalized Genetic Medicine, Cambridge, MA, USA

    Samantha M. Baxter

Authors
  1. Cécile Skrzynia
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  2. Erin M. Demo
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  3. Samantha M. Baxter
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Correspondence to Cécile Skrzynia.

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Skrzynia, C., Demo, E.M. & Baxter, S.M. Genetic Counseling and Testing for Hypertrophic Cardiomyopathy: An Adult Perspective. J. of Cardiovasc. Trans. Res. 2, 493–499 (2009). https://doi.org/10.1007/s12265-009-9127-4

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  • DOI: https://doi.org/10.1007/s12265-009-9127-4

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