Journal of Cardiovascular Translational Research

, Volume 2, Issue 4, pp 500-507

Genetic Counseling and Testing for Hypertrophic Cardiomyopathy: the Pediatric Perspective

  • Erin M. DemoAffiliated withChildren’s Healthcare of Atlanta-Sibley Heart Center Cardiology, Emory University Email author 
  • , Cécile SkrzyniaAffiliated withDepartments of Medicine and Genetics, University of North Carolina at Chapel Hill
  • , Samantha BaxterAffiliated withLaboratory for Molecular Medicine, Partners Center for Personalized Genetic Medicine

Rent the article at a discount

Rent now

* Final gross prices may vary according to local VAT.

Get Access


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