Pediatric Cardiology

, Volume 31, Issue 2, pp 195–202 | Cite as

Parental Knowledge and Attitudes Toward Hypertrophic Cardiomyopathy Genetic Testing

  • Sara M. Fitzgerald-Butt
  • Lindsey Byrne
  • Cynthia A. Gerhardt
  • Kathryn Vannatta
  • Timothy M. Hoffman
  • Kim L. McBride
Original Article


Hypertrophic cardiomyopathy (HCM) is a common autosomal dominant condition with an increased risk of sudden cardiac death. Although clinical genetic testing can be used for confirmation of a clinical diagnosis as well as a predictive test, based on our clinical experience it is underutilized. Therefore, we developed and administered a questionnaire to assess potential determinants of parental interest in this testing. Of the 30 adult caregivers who participated, 80% had heard of genetic testing, whereas only 30% knew about genetic testing specifically for HCM. Once informed of the availability, 62% said they would consider testing in the future and 28% would consider it in the next year. Participants’ younger age, higher education level, knowledge of carrier testing, and positive view of genetic testing were significantly associated with the participant considering HCM genetic testing for their child (p ≤ 0.05). Based on a logistic regression model, age, education level, and knowing that HCM is an inherited disease were the best predictors of who would consider genetic testing. This study provides healthcare providers with a framework to understand caregivers’ knowledge and views of genetic testing, which can be used to improve clinical care for pediatric HCM patients.


Hypertrophic cardiomyopathy Genetic screening Genetic counseling Pediatric Health knowledge attitudes practice 


  1. 1.
    Alcalai R, Seidman JG, Seidman CE (2008) Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics. J Cardiovasc Electrophysiol 19:104–110PubMedGoogle Scholar
  2. 2.
    Andersen J, Oyen N, Bjorvatn C, Gjengedal E (2008) Living with long QT syndrome: a qualitative study of coping with increased risk of sudden cardiac death. J Genet Couns 17:489–498CrossRefPubMedGoogle Scholar
  3. 3.
    Brunger JW, Murray GS, O’Riordan M, Matthews AL, Smith RJ, Robin NH (2000) Parental attitudes toward genetic testing for pediatric deafness. Am J Hum Genet 67:1621–1625CrossRefPubMedGoogle Scholar
  4. 4.
    Christiaans I, Birnie E, Bonsel GJ, Wilde AA, van Langen IM (2008) Uptake of genetic counseling and predictive DNA testing in hypertrophic cardiomyopathy. Eur J Hum Genet 16:1201–1207CrossRefPubMedGoogle Scholar
  5. 5.
    Christiaans I, van Langen IM, Birnie E, Bonsel GJ, Wilde AA, Smets EM (2009) Genetic counseling and cardiac care in predictively tested hypertrophic cardiomyopathy mutation carriers: the patients’ perspective. Am J Med Genet 149A(7):1444–1451Google Scholar
  6. 6.
    Christiaans I, van Langen IM, Birnie E, Bonsel GJ, Wilde AA, Smets EM (2009) Quality of life and psychological distress in hypertrophic cardiomyopathy mutation carriers: a cross-sectional cohort study. Am J Med Genet 149A:602–612CrossRefPubMedGoogle Scholar
  7. 7.
    Geisterfer-Lowrance AA, Kass S, Tanigawa G, Vosberg HP, McKenna W, Seidman CE et al (1990) A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell 62:999–1006CrossRefPubMedGoogle Scholar
  8. 8.
    Hershberger RE, Lindenfeld J, Mestroni L, Seidman CE, Taylor MR, Towbin JA (2009) Genetic evaluation of cardiomyopathy—a heart Failure Society of America Practice guideline. J Card Fail 15:83–97CrossRefPubMedGoogle Scholar
  9. 9.
    Ho CY, Seidman CE (2006) A contemporary approach to hypertrophic cardiomyopathy. Circulation 113:e858–e862CrossRefPubMedGoogle Scholar
  10. 10.
    Ingles J, Lind JM, Phongsavan P, Semsarian C (2008) Psychosocial impact of specialized cardiac genetic clinics for hypertrophic cardiomyopathy. Genet Med 10:117–120CrossRefPubMedGoogle Scholar
  11. 11.
    Keren A, Syrris P, McKenna WJ (2008) Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression. Nat Clin Pract Cardiovasc Med 5:158–168CrossRefPubMedGoogle Scholar
  12. 12.
    Lacour RA, Daniels MS, Westin SN, Meyer LA, Burke CC, Burns KA et al (2008) What women with ovarian cancer think and know about genetic testing. Gynecol Oncol 111:132–136CrossRefPubMedGoogle Scholar
  13. 13.
    Marian AJ, Roberts R (2001) The molecular genetic basis for hypertrophic cardiomyopathy. J Mol Cell Cardiol 33:655–670CrossRefPubMedGoogle Scholar
  14. 14.
    Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE (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 92:785–789PubMedGoogle Scholar
  15. 15.
    Maron BJ, McKenna WJ, Danielson GK, Kappenberger LJ, Kuhn HJ, Seidman CE et al (2003) American College of Cardiology/European Society of Cardiology Clinical Expert Consensus Document on Hypertrophic Cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. J Am Coll Cardiol 42:1687–1713CrossRefPubMedGoogle Scholar
  16. 16.
    McLaren CE, Barton JC, Adams PC, Harris EL, Acton RT, Press N et al (2003) Hemochromatosis and iron overload screening (HEIRS) study design for an evaluation of 100,000 primary care-based adults. Am J Med Sci 325:53–62CrossRefPubMedGoogle Scholar
  17. 17.
    Meulenkamp TM, Tibben A, Mollema ED, van Langen IM, Wiegman A, de Wert GM et al (2008) Predictive genetic testing for cardiovascular diseases: impact on carrier children. Am J Med Genet 146A:3136–3146CrossRefPubMedGoogle Scholar
  18. 18.
    Michie S, McDonald V, Bobrow M, McKeown C, Marteau T (1996) Parents’ responses to predictive genetic testing in their children: report of a single case study. J Med Genet 33:313–318CrossRefPubMedGoogle Scholar
  19. 19.
    Patenaude AF, Basili L, Fairclough DL, Li FP (1996) Attitudes of 47 mothers of pediatric oncology patients toward genetic testing for cancer predisposition. J Clin Oncol 14:415–421PubMedGoogle Scholar
  20. 20.
    Priori SG, Aliot E, Blomstrom-Lundqvist C, Bossaert L, Breithardt G, Brugada P et al (2001) Task force on sudden cardiac death of the European Society of Cardiology. Eur Heart J 22:1374–1450CrossRefPubMedGoogle Scholar
  21. 21.
    Ryan MP, French J, al-Mahdawi S, Nihoyannopoulos P, Cleland JG, Oakley CM et al (1995) Genetic testing for familial hypertrophic cardiomyopathy in newborn infants. Br Med J (Clin Res Ed) 310:856–859Google Scholar
  22. 22.
    Segal ME, Polansky M, Sankar P (2007) Adults’ values and attitudes about genetic testing for obesity risk in children. Int J Pediatr Obes 2:11–21CrossRefPubMedGoogle Scholar
  23. 23.
    Smets EM, Stam MM, Meulenkamp TM, van Langen IM, Wilde AA, Wiegman A et al (2008) Health-related quality of life of children with a positive carrier status for inherited cardiovascular diseases. Am J Med Genet 146A:700–707CrossRefPubMedGoogle Scholar
  24. 24.
    Tanigawa G, Jarcho JA, Kass S, Solomon SD, Vosberg HP, Seidman JG et al (1990) A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene. Cell 62:991–998CrossRefPubMedGoogle Scholar
  25. 25.
    van der Roest WP, Pennings JM, Bakker M, van den Berg MP, van Tintelen JP (2009) Family letters are an effective way to inform relatives about inherited cardiac disease. Am J Med Genet 149A:357–363CrossRefPubMedGoogle Scholar
  26. 26.
    Van Driest SL, Ommen SR, Tajik AJ, Gersh BJ, Ackerman MJ (2005) Yield of genetic testing in hypertrophic cardiomyopathy. Mayo Clin Proc 80:739–744CrossRefPubMedGoogle Scholar
  27. 27.
    van Langen IM, Birnie E, Leschot NJ, Bonsel GJ, Wilde AA (2003) Genetic knowledge and counseling skills of Dutch cardiologists: sufficient for the genomics era? Eur Heart J 24:560–566CrossRefPubMedGoogle Scholar
  28. 28.
    van Langen IM, Birnie E, Schuurman E, Tan HL, Hofman N, Bonsel GJ et al (2005) Preferences of cardiologists and clinical geneticists for the future organization of genetic care in hypertrophic cardiomyopathy: a survey. Clin Genet 68:360–368CrossRefPubMedGoogle Scholar
  29. 29.
    Laboratory for Molecular Medicine, Harvard Medical School and Partners Healthcare, Center for Genetics and Genomics Hypertrophic Cardiomyopathy Genetic Testing. Boston, MA.
  30. 30.
    Zipes DP, Camm AJ, Borggrefe M, Buxton AE, Chaitman B, Fromer M et al (2006) ACC/AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: 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). J Am Coll Cardiol 48:e247–e346CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2009

Authors and Affiliations

  • Sara M. Fitzgerald-Butt
    • 1
    • 3
  • Lindsey Byrne
    • 1
    • 5
  • Cynthia A. Gerhardt
    • 2
    • 3
  • Kathryn Vannatta
    • 2
    • 3
  • Timothy M. Hoffman
    • 3
    • 4
  • Kim L. McBride
    • 1
    • 3
  1. 1.Center for Molecular and Human GeneticsThe Research Institute at Nationwide Children’s HospitalColumbusUSA
  2. 2.Center for BioBehavioral HealthThe Research Institute at Nationwide Children’s HospitalColumbusUSA
  3. 3.Department of Pediatrics, College of MedicineThe Ohio State UniversityColumbusUSA
  4. 4.The Heart CenterNationwide Children’s HospitalColumbusUSA
  5. 5.Cancer GeneticsOhioHealthColumbusUSA

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