Journal of Cardiovascular Translational Research

, Volume 2, Issue 4, pp 493–499

Genetic Counseling and Testing for Hypertrophic Cardiomyopathy: An Adult Perspective

  • Cécile Skrzynia
  • Erin M. Demo
  • Samantha M. Baxter

DOI: 10.1007/s12265-009-9127-4

Cite this article as:
Skrzynia, C., Demo, E.M. & Baxter, S.M. J. of Cardiovasc. Trans. Res. (2009) 2: 493. doi:10.1007/s12265-009-9127-4


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.


Genetic CounselingHypertrophic CardiomyopathyCardiac Genetics

Copyright information

© Springer Science+Business Media, LLC 2009

Authors and Affiliations

  • Cécile Skrzynia
    • 1
  • Erin M. Demo
    • 2
  • Samantha M. Baxter
    • 3
  1. 1.Departments of Medicine and GeneticsUniversity of North Carolina at Chapel HillChapel HillUSA
  2. 2.Children’s Healthcare of Atlanta-Sibley Heart Center CardiologyEmory UniversityAtlantaUSA
  3. 3.Laboratory for Molecular MedicinePartners Center for Personalized Genetic MedicineCambridgeUSA