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Channelopathies: Clinical Presentation and Genetics

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Cardiac Arrhythmias, Pacing and Sudden Death

Part of the book series: Cardiovascular Medicine ((CVM))

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Abstract

Over the last three decades, the field of genetic cardiac arrhythmia diseases has transformed to where genetic testing has become an integral part of diagnosis, treatment and follow- up, including family evaluation. In fact, in some cases these genetic discoveries have enabled pre-clinical diagnosis thereby possibly preventing one of its most devastating, and sometimes sentinel, event of sudden cardiac death (SCD). This is certainly true for the cardiac channelopathies, heritable cardiac arrhythmia syndromes caused by abnormal ion channel function clinically leading to syncope, seizures, and SCD, often in the setting of a structurally normal heart. These inherited and potentially lethal arrhythmia disorders include a variety of diseases, of which the most common ones—long QT syndrome (LQTS), Brugada syndrome (BrS), and catecholaminergic polymorphic ventricular tachycardia (CPVT)—will be discussed in this chapter. As will be outlined, not only can genetics help (or complicate) diagnosis of these channelopathies, important genotype-phenotype correlations have emerged that might aid in risk stratification for these conditions, and genotype specific therapies are available in certain situations.

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Abbreviations

ATS:

Andersen-Tawil syndrome

BrS:

Brugada syndrome

CPVT:

Catecholaminergic polymorphic ventricular tachycardia

JLNS:

Jervell and Lange-Nielsen syndrome

LQTS:

Long QT syndrome

SCD:

Sudden cardiac death

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Authors and Affiliations

  1. Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN, USA

    J. Martijn Bos M.D., Ph.D. & Michael J. Ackerman M.D., Ph.D.

  2. Department of Molecular Pharmacology and Experimental, Mayo Clinic Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA

    J. Martijn Bos M.D., Ph.D. & Michael J. Ackerman M.D., Ph.D.

  3. Division of Heart Rhythm Services, Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN, USA

    Michael J. Ackerman M.D., Ph.D.

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  1. J. Martijn Bos M.D., Ph.D.
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Correspondence to J. Martijn Bos M.D., Ph.D. .

Editor information

Editors and Affiliations

  1. Lankenau Heart Institute and Jefferson Medical College, Philadelphia, Pennsylvania, USA

    Peter Kowey

  2. Associate Professor of Medicine, Duke University Medical Center, Duke Clinical Research Institute, Durham, North Carolina, USA

    Jonathan P. Piccini

  3. Bernard Trabin Chair in Cardiology Professor of Medicine Chief, Division of Cardiology, Associate Clinical Director Heart and Vascular Institute, Penn State University College of Medicine, Hershey, Pennsylvania, USA

    Gerald Naccarelli

  4. Professor Emeritus of Medicine Department of Medicine, Division of Cardiology, Section of Electrophysiology, Columbia University, New York, USA

    James A. Reiffel

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Bos, J.M., Ackerman, M.J. (2017). Channelopathies: Clinical Presentation and Genetics. In: Kowey, P., Piccini, J., Naccarelli, G., Reiffel, J. (eds) Cardiac Arrhythmias, Pacing and Sudden Death. Cardiovascular Medicine. Springer, Cham. https://doi.org/10.1007/978-3-319-58000-5_4

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