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Genetic Counseling and Testing for Hypertrophic Cardiomyopathy: the Pediatric Perspective

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Abstract

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.

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Authors and Affiliations

  1. Children’s Healthcare of Atlanta-Sibley Heart Center Cardiology, Emory University, Atlanta, GA, USA

    Erin M. Demo

  2. Departments of Medicine and Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA

    Cécile Skrzynia

  3. Laboratory for Molecular Medicine, Partners Center for Personalized Genetic Medicine, Cambridge, MA, USA

    Samantha Baxter

Authors
  1. Erin M. Demo
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  2. Cécile Skrzynia
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  3. Samantha Baxter
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Correspondence to Erin M. Demo.

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Demo, E.M., Skrzynia, C. & Baxter, S. Genetic Counseling and Testing for Hypertrophic Cardiomyopathy: the Pediatric Perspective. J. of Cardiovasc. Trans. Res. 2, 500–507 (2009). https://doi.org/10.1007/s12265-009-9126-5

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  • DOI: https://doi.org/10.1007/s12265-009-9126-5

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