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. 2009 Dec;2(4):500-7.
doi: 10.1007/s12265-009-9126-5. Epub 2009 Sep 24.

Genetic counseling and testing for hypertrophic cardiomyopathy: the pediatric perspective

Erin M Demo  1 , Cécile Skrzynia, Samantha Baxter
Affiliations

Genetic counseling and testing for hypertrophic cardiomyopathy: the pediatric perspective

Erin M Demo et al. J Cardiovasc Transl Res. 2009 Dec.

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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