Genetic counseling and testing for hypertrophic cardiomyopathy: the pediatric perspective.
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.
Demo
Erin M
EM
Children's Healthcare of Atlanta-Sibley Heart Center Cardiology, Emory University, Atlanta, GA, USA. demoe@kidsheart.com
Skrzynia
Cécile
C
Baxter
Samantha
S
D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology / Q000628:therapy; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D019090:Case Management; D002648:Child; D002675:Child, Preschool; D003299:Cooperative Behavior; D005260:Female; D005817:Genetic Counseling / Q000523:psychology; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000523:psychology; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D008297:Male; D010290:Parents / Q000523:psychology; D010348:Patient Care Team; D010353:Patient Education as Topic; D010375:Pedigree; D010817:Physician-Patient Relations; D011237:Predictive Value of Tests; D011379:Prognosis; D002666:Psychology, Child; D018570:Risk Assessment; D012307:Risk Factors