Genetic Testing for Inheritable Cardiac Channelopathies

  • Florence KyndtEmail author
  • Jean-Baptiste Gourraud
  • Julien Barc
Part of the Cardiac and Vascular Biology book series (Abbreviated title: Card. vasc. biol.)


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.


Compliance with Ethical Standards

Sources of Funding

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

Conflict of Interest

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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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Florence Kyndt
    • 1
    • 2
    Email author
  • Jean-Baptiste Gourraud
    • 1
    • 3
  • Julien Barc
    • 1
  1. 1.l’institut du thorax, INSERM, CNRS, UNIV NantesNantesFrance
  2. 2.CHU Nantes, Service de Génétique MédicaleNantesFrance
  3. 3.L’institut du thorax, CHU Nantes, Service de CardiologieNantesFrance

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