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Uptake of Cardiac Screening and Genetic Testing Among Hypertrophic and Dilated Cardiomyopathy Families

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

Cardiomyopathy is a genetically and clinically heterogeneous, life threatening disease which affects people of all ages. Recent guidelines provide recommendations for cardiac screening and genetic testing in at-risk relatives, but the uptake and impact of these measures in the United States is unknown. This is a single institution retrospective study that characterizes the uptake of cardiac screening and genetic testing for relatives of a cohort of 57 probands with hypertrophic (HCM) and dilated cardiomyopathy (DCM) who underwent both clinical evaluation and genetic testing. Cardiac screening was indicated for 302 relatives. One hundred and seventy-three (57 %) completed cardiac screening. Forty of the 57 probands were mutation positive and genetic testing was indicated for 213 relatives. Eighty-four (39 %) completed genetic testing. The uptake of cardiac surveillance was greater than the uptake of genetic testing (p < 0.0001) among relatives of mutation positive probands. Within the group of at-risk, asymptomatic relatives of probands, cardiac screening and genetic testing were positive in 25 % and 40 % of cases, respectively. These data demonstrate the important role and utility of cascade cardiac screening and genetic testing in the care of patients and families with HCM or DCM. The approach to cardiac screening and genetic testing should be family-specific and requires expertise in the genetics of cardiomyopathy.

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References

  • Ackerman, M. J., Priori, S. G., Willems, S., Berul, C., Brugada, R., Calkins, H., et al. (2011). HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm, 8(8), 1308–1339.

    Article  Google Scholar 

  • Alders, M., Jongbloed, R., Deelen, W., van den Wijngaard, A., Doevendans, P., Ten Cate, F., et al. (2003). The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. European Heart Journal, 24(20), 1848–1853.

    Article  CAS  Google Scholar 

  • Bos, J. M., Towbin, J. A., & Ackerman, M. J. (2009). Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy. Journal of the American College of Cardiology, 54(3), 201–211.

    Article  CAS  Google Scholar 

  • Charron, P., Heron, D., Gargiulo, M., Richard, P., Dubourg, O., Desnos, M., et al. (2002). Genetic testing and genetic counselling in hypertrophic cardiomyopathy: the French experience. Journal of Medical Genetics, 39(10), 741–746.

    Article  CAS  Google Scholar 

  • Charron, P., Arad, M., Arbustini, E., Basso, C., Bilinska, Z., Elliott, P., et al. (2010). Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. European Heart Journal, 31(22), 2715–2726.

    Article  Google Scholar 

  • Christiaans, I., Birnie, E., Bonsel, G. J., Wilde, A. A., & van Langen, I. M. (2008). Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy. European Journal of Human Genetics, 16(10), 1201–1207.

    Article  Google Scholar 

  • Christiaans, I., Nannenberg, E. A., Dooijes, D., Jongbloed, R. J., Michels, M., Postema, P. G., et al. (2010). Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. Netherlands Heart Journal, 18(5), 248–254.

    Article  CAS  Google Scholar 

  • Fatkin, D. (2011). Guidelines for the diagnosis and management of familial dilated cardiomyopathy. Heart, Lung and Circulation, 20(11), 691–693.

    Article  Google Scholar 

  • Fitzgerald-Butt, S. M., Byrne, L., Gerhardt, C. A., Vannatta, K., Hoffman, T. M., & McBride, K. L. (2010). Parental knowledge and attitudes toward hypertrophic cardiomyopathy genetic testing. Pediatric Cardiology, 31(2), 195–202.

    Article  Google Scholar 

  • Grunig, E., Tasman, J. A., Kucherer, H., Franz, W., Kubler, W., & Katus, H. A. (1998). Frequency and phenotypes of familial dilated cardiomyopathy. Journal of the American College of Cardiology, 31(1), 186–194.

    Article  CAS  Google Scholar 

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

    Article  Google Scholar 

  • Hoedemaekers, Y. M., Caliskan, K., Michels, M., Frohn-Mulder, I., van der Smagt, J. J., Phefferkorn, J. E., et al. (2010). The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy. Circulation. Cardiovascular Genetics, 3(3), 232–239.

    Article  Google Scholar 

  • Judge, D. P. (2009). Use of genetics in the clinical evaluation of cardiomyopathy. Journal of the American Medical Association, 302(22), 2471–2476.

    Article  CAS  Google Scholar 

  • Kindel, S. J., Miller, E. M., Gupta, R., Cripe, L. H., Hinton, R. B., Spicer, R. L., et al. (2012). Pediatric cardiomyopathy: importance of genetic and metabolic evaluation. Journal of Cardiac Failure, 18(5), 396–403.

    Article  CAS  Google Scholar 

  • Marian, A. J. (2007). Phenotypic plasticity of sarcomeric protein mutations. Journal of the American College of Cardiology, 49(25), 2427–2429.

    Article  CAS  Google Scholar 

  • Maron, B. J., Gardin, J. M., Flack, J. M., Gidding, S. S., Kurosaki, T. T., & Bild, D. E. (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(4), 785–789.

    Article  CAS  Google Scholar 

  • Maron, B. J., Towbin, J. A., Thiene, G., Antzelevitch, C., Corrado, D., Arnett, D., 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(14), 1807–1816.

    Article  Google Scholar 

  • Moller, D. V., Andersen, P. S., Hedley, P., Ersboll, M. K., Bundgaard, H., Moolman-Smook, J., et al. (2009). The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. European Journal of Human Genetics, 17(10), 1241–1249.

    Article  Google Scholar 

  • Morimoto, S. (2008). Sarcomeric proteins and inherited cardiomyopathies. Cardiovascular Research, 77(4), 659–666.

    Article  CAS  Google Scholar 

  • Morita, H., Larson, M. G., Barr, S. C., Vasan, R. S., O’Donnell, C. J., Hirschhorn, J. N., et al. (2006). Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study. Circulation, 113(23), 2697–2705.

    Article  Google Scholar 

  • Morita, H., Rehm, H. L., Menesses, A., McDonough, B., Roberts, A. E., Kucherlapati, R., et al. (2008). Shared genetic causes of cardiac hypertrophy in children and adults. The New England Journal of Medicine, 358(18), 1899–1908.

    Article  CAS  Google Scholar 

  • Richardson, P., McKenna, W., Bristow, M., Maisch, B., Mautner, B., O’Connell, J., et al. (1996). Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation, 93(5), 841–842.

    Article  CAS  Google Scholar 

  • Sanz, J., Ramon y Cajal, T., Torres, A., Darder, E., Gadea, N., Velasco, A., et al. (2010). Uptake of predictive testing among relatives of BRCA1 and BRCA2 families: a multicenter study in northeastern Spain. Fam Cancer, 9(3), 297–304.

    Article  Google Scholar 

  • van der Roest, W. P., Pennings, J. M., Bakker, M., van den Berg, M. P., & van Tintelen, J. P. (2009). Family letters are an effective way to inform relatives about inherited cardiac disease. American Journal of Medical Genetics. Part A, 149A(3), 357–363.

    Article  Google Scholar 

  • van Langen, I. M., Hofman, N., Tan, H. L., & Wilde, A. A. (2004). Family and population strategies for screening and counselling of inherited cardiac arrhythmias. Annals of Medicine, 36(Suppl 1), 116–124.

    Article  Google Scholar 

  • Van Langen, I., Arens, Y., Baars, H., Bokenkamp, R., Delhaas, T., Dooijes, D., et al. (2010). Genetic diagnostics and genetic counselling in Hypertrophic Cardiomyopathy (HCM). Netherlands Heart Journal, 18(3), 144–159.

    Article  Google Scholar 

  • Watkins, H., Ashrafian, H., & Redwood, C. (2011). Inherited cardiomyopathies. The New England Journal of Medicine, 364(17), 1643–1656.

    Article  CAS  Google Scholar 

  • Zou, Y., Song, L., Wang, Z., Ma, A., Liu, T., Gu, H., et al. (2004). Prevalence of idiopathic hypertrophic cardiomyopathy in China: a population-based echocardiographic analysis of 8080 adults. American Journal of Medicine, 116(1), 14–18.

    Article  Google Scholar 

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Acknowledgements

We thank the patients and families.

Competing Interests

None to disclose.

Funding

This study was supported by the Heart Institute at Cincinnati Children’s Hospital Medical Center.

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Authors and Affiliations

  1. The Heart Institute, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue, MLC 7020, Cincinnati, OH, 45229-3039, USA

    Erin M. Miller & Stephanie M. Ware

  2. University of Cincinnati College of Medicine, Cincinnati, OH, USA

    Stephanie M. Ware

  3. Division of Biostatistics and Epidemiology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA

    Yu Wang

  4. Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA

    Stephanie M. Ware

Authors
  1. Erin M. Miller
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  2. Yu Wang
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  3. Stephanie M. Ware
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Correspondence to Erin M. Miller.

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Miller, E.M., Wang, Y. & Ware, S.M. Uptake of Cardiac Screening and Genetic Testing Among Hypertrophic and Dilated Cardiomyopathy Families. J Genet Counsel 22, 258–267 (2013). https://doi.org/10.1007/s10897-012-9544-4

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  • DOI: https://doi.org/10.1007/s10897-012-9544-4

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