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Genetic Testing for Inheritable Cardiac Channelopathies

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Channelopathies in Heart Disease

Part of the book series: Cardiac and Vascular Biology ((Abbreviated title: Card. vasc. biol.,volume 6))

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Abstract

Inheritable cardiac channelopathies (ICC) are defined as primary electrical disorders without identifiable cardiac structural abnormalities and are mostly encountered in young adults (under 40 years). Diagnosis of ICC is often established after the first symptoms such as recurrent palpitations and syncope or more dramatically after unexplained sudden cardiac death (SCD). In this context, familial clinical screening coupled with genetic testing are required to prevent additional (fatal) arrhythmia events in relatives. This review presents an update of the ICC-associated genes and proposes a screening hierarchy according to the phenotype. The impact of the new sequencing technologies on the genetic testing as well as on the patient management will be also discussed.

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Authors and Affiliations

  1. l’institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France

    Florence Kyndt, Jean-Baptiste Gourraud & Julien Barc

  2. CHU Nantes, Service de Génétique Médicale, Nantes, France

    Florence Kyndt

  3. L’institut du thorax, CHU Nantes, Service de Cardiologie, Nantes, France

    Jean-Baptiste Gourraud

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  1. Florence Kyndt
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  2. Jean-Baptiste Gourraud
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  3. Julien Barc
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Correspondence to Florence Kyndt .

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Editors and Affiliations

  1. Department of Cardiology and HCR (Heidelberg Center for Heart Rhythm Disorders), University Hospital Heidelberg, Heidelberg, Germany

    Dierk Thomas

  2. Dept. of Clinical & Experimental Cardiology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

    Carol Ann Remme

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Julien Barc was supported by the H2020-MSCA-IF-2014 Program of the European Commission (RISTRAD-661617).

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Florence Kyndt declares that she has no conflict of interest. Jean-Baptiste Gourraud declares that he has no conflict of interest. Julien Barc declares that he has no conflict of interest.

This article does not contain any studies with human participants or animals performed by any of the authors.

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Kyndt, F., Gourraud, JB., Barc, J. (2018). Genetic Testing for Inheritable Cardiac Channelopathies. In: Thomas, D., Remme, C. (eds) Channelopathies in Heart Disease . Cardiac and Vascular Biology, vol 6. Springer, Cham. https://doi.org/10.1007/978-3-319-77812-9_13

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