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Genetic Counseling in Inherited Cardiomyopathies

Sarah Moharem-Elgamal, MD, PhD, Eva Sammut, MD, PhD, Graham Stuart, MD, MS

JACC: Case Reports · 2020

doi:10.1016/j.jaccas.2020.02.007 (opens in a new tab)

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Abstract

ignificant advances in genetic testing have provided new opportunities for cardiologists to identify and understand the genetic basis of inherited cardiomyopathies (CMPs).Over the past 10 years, genetic testing has transitioned from research to the clinical arena and is routinely offered in CMP clinics to identify the genetic cause of disease (1).However, this testing also has come with new challenges and responsibilities regarding the use of this information for patients with CMPs and their families.GENETIC COUNSELING Genetic counseling is "the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease" (2).All medical professionals, including cardiologists, who treat families with CMPs should have a good knowledge of molecular genetics of CMP and be trained in the principles of genetic counseling (1,3,4).The provision of care for CMP requires a multidisplinary team in which genetics providers play an essential role.Genetic counseling

Abstract licence: CC BY-NC-ND

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