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Genetic Counseling and Testing in Children with Heart Diseases

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Pediatric Cardiology

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Abstract

Genetic counseling has emerged as an integral part of the cardiovascular assessment in fetal and pediatric cardiology. Genetic counselors are masters-level healthcare professionals who are experts in both medical genetics and counseling. They provide personalized genetic/family risk assessment, education, guidance, and support for patients and families who have or may be at risk for genetic disease(s). Most genetic counselors are integrated into clinic and hospital settings, working closely with physicians and other allied health providers. They are involved in genetic test result analysis, reporting, variant interpretation, and facilitating family-based care for genetic cardiovascular disorders. Accurate medical history, family history, and physical exam are essential elements for providing effective counseling. This chapter reviews the various aspects of genetic counseling, genetic testing, and interpreting results.

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Authors and Affiliations

  1. Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, USA

    Sara Cherny

  2. Dept. of Medical & Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA

    Benjamin Helm

Authors
  1. Sara Cherny
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  2. Benjamin Helm
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Correspondence to Sara Cherny .

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Editors and Affiliations

  1. Lurie Children's Hospital, Northwestern Memorial Hospital, Chicago, IL, USA

    Ra-id Abdulla

  2. Lurie Children's Hospital of Chicago, Northwestern Memorial Hospital, Chicago, USA

    Stuart Berger

  3. Lurie Children's Hospital of Chicago, Northwestern Memorial Hospital, Chicago, USA

    Carl Backer

  4. King's College, University College London, London, UK

    Robert Anderson

  5. Weill Cornell Medical College, Cornell University, New York, USA

    Ralf Holzer

  6. University of Amsterdam, Amsterdam, Noord-Holland, The Netherlands

    Nico Blom

  7. Lurie Children's Hospital of Chicago, Northwestern Memorial Hospital, Chicago, IL, USA

    Joshua Robinson

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Cherny, S., Helm, B. (2023). Genetic Counseling and Testing in Children with Heart Diseases. In: Abdulla, Ri., et al. Pediatric Cardiology. Springer, Cham. https://doi.org/10.1007/978-3-030-42937-9_46-1

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  • DOI: https://doi.org/10.1007/978-3-030-42937-9_46-1

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-42937-9

  • Online ISBN: 978-3-030-42937-9

  • eBook Packages: Springer Reference MedicineReference Module Medicine

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