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Genetic Testing for Inherited Cardiac Arrhythmias: Current State-of-the-Art and Future Avenues

The seminal discovery that sequence variation in genes encoding cardiac ion channels was behind the inherited cardiac arrhythmic syndromes has led to major advances in understanding the functional biological mechanisms of cardiomyocyte depolarization and repolarization. The cost and speed with which...

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Detalles Bibliográficos
Autores principales: Hylind, Robyn J., Chandler, Stephanie F., Skinner, Jonathan R., Abrams, Dominic J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MediaSphere Medical 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7252877/
https://www.ncbi.nlm.nih.gov/pubmed/32494476
http://dx.doi.org/10.19102/icrm.2018.091102
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author Hylind, Robyn J.
Chandler, Stephanie F.
Skinner, Jonathan R.
Abrams, Dominic J.
author_facet Hylind, Robyn J.
Chandler, Stephanie F.
Skinner, Jonathan R.
Abrams, Dominic J.
author_sort Hylind, Robyn J.
collection PubMed
description The seminal discovery that sequence variation in genes encoding cardiac ion channels was behind the inherited cardiac arrhythmic syndromes has led to major advances in understanding the functional biological mechanisms of cardiomyocyte depolarization and repolarization. The cost and speed with which these genes can now be sequenced have allowed for genetic testing to become a major component of clinical care and have led to important ramifications, yet interpretation of specific variants needs to be performed within the context of the clinical findings in the proband and extended family. As technology continues to advance, the promise of therapeutic manipulation of certain genetic pathways grows ever more real.
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spelling pubmed-72528772020-06-02 Genetic Testing for Inherited Cardiac Arrhythmias: Current State-of-the-Art and Future Avenues Hylind, Robyn J. Chandler, Stephanie F. Skinner, Jonathan R. Abrams, Dominic J. J Innov Card Rhythm Manag Research Review The seminal discovery that sequence variation in genes encoding cardiac ion channels was behind the inherited cardiac arrhythmic syndromes has led to major advances in understanding the functional biological mechanisms of cardiomyocyte depolarization and repolarization. The cost and speed with which these genes can now be sequenced have allowed for genetic testing to become a major component of clinical care and have led to important ramifications, yet interpretation of specific variants needs to be performed within the context of the clinical findings in the proband and extended family. As technology continues to advance, the promise of therapeutic manipulation of certain genetic pathways grows ever more real. MediaSphere Medical 2018-11-15 /pmc/articles/PMC7252877/ /pubmed/32494476 http://dx.doi.org/10.19102/icrm.2018.091102 Text en Copyright: © 2018 Innovations in Cardiac Rhythm Management http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Review
Hylind, Robyn J.
Chandler, Stephanie F.
Skinner, Jonathan R.
Abrams, Dominic J.
Genetic Testing for Inherited Cardiac Arrhythmias: Current State-of-the-Art and Future Avenues
title Genetic Testing for Inherited Cardiac Arrhythmias: Current State-of-the-Art and Future Avenues
title_full Genetic Testing for Inherited Cardiac Arrhythmias: Current State-of-the-Art and Future Avenues
title_fullStr Genetic Testing for Inherited Cardiac Arrhythmias: Current State-of-the-Art and Future Avenues
title_full_unstemmed Genetic Testing for Inherited Cardiac Arrhythmias: Current State-of-the-Art and Future Avenues
title_short Genetic Testing for Inherited Cardiac Arrhythmias: Current State-of-the-Art and Future Avenues
title_sort genetic testing for inherited cardiac arrhythmias: current state-of-the-art and future avenues
topic Research Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7252877/
https://www.ncbi.nlm.nih.gov/pubmed/32494476
http://dx.doi.org/10.19102/icrm.2018.091102
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