Journal of Cardiovascular Translational Research

, Volume 2, Issue 4, pp 500–507

Genetic Counseling and Testing for Hypertrophic Cardiomyopathy: the Pediatric Perspective


DOI: 10.1007/s12265-009-9126-5

Cite this article as:
Demo, E.M., Skrzynia, C. & Baxter, S. J. of Cardiovasc. Trans. Res. (2009) 2: 500. doi:10.1007/s12265-009-9126-5


Hypertrophic cardiomyopathy (HCM) is a common cardiac disease that is now being identified in the pediatric population. The etiology of this disease is largely genetic, and as a result, genetics professionals are becoming more involved in the management of these patients. We present multiple case scenarios that highlight the complex nature of this disease and how genetic counselors and cardiologists can interact to identify the genetic etiology of HCM and provide comprehensive care for these patients. Additionally, we describe knowledge gaps in this field and how research endeavors can assist in more effectively managing this patient cohort.


Genetic Counseling Hypertrophic Cardiomyopathy Pediatric Cardiology Cardiac Genetics 

Copyright information

© Springer Science+Business Media, LLC 2009

Authors and Affiliations

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

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