Potassium-channel mutations and cardiac arrhythmias - Diagnosis and therapy

John R. Giudicessi, Michael John Ackerman

Research output: Contribution to journalArticle

56 Citations (Scopus)

Abstract

The coordinated generation and propagation of action potentials within cardiomyocytes creates the intrinsic electrical stimuli that are responsible for maintaining the electromechanical pump function of the human heart. The synchronous opening and closing of cardiac Na +, Ca 2+, and K + channels corresponds with the activation and inactivation of inward depolarizing (Na + and Ca 2+) and outward repolarizing (K +) currents that underlie the various phases of the cardiac action potential (resting, depolarization, plateau, and repolarization). Inherited mutations in pore-forming α subunits and accessory βsubunits of cardiac K + channels can perturb the atrial and ventricular action potential and cause various cardiac arrhythmia syndromes, including long QT syndrome, short QT syndrome, Brugada syndrome, and familial atrial fibrillation. In this Review, we summarize the current understanding of the molecular and cellular mechanisms that underlie K +-channel- mediated arrhythmia syndromes. We also describe translational advances that have led to the emerging role of genetic testing and genotype-specific therapy in the diagnosis and clinical management of individuals who harbor pathogenic mutations in genes that encode α or β subunits of cardiac K + channels.

Original languageEnglish (US)
Pages (from-to)319-332
Number of pages14
JournalNature Reviews Cardiology
Volume9
Issue number6
DOIs
StatePublished - Jun 2012

Fingerprint

Potassium Channels
Action Potentials
Cardiac Arrhythmias
Mutation
Brugada Syndrome
Long QT Syndrome
Genetic Testing
Cardiac Myocytes
Atrial Fibrillation
Therapeutics
Genotype
Genes

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Potassium-channel mutations and cardiac arrhythmias - Diagnosis and therapy. / Giudicessi, John R.; Ackerman, Michael John.

In: Nature Reviews Cardiology, Vol. 9, No. 6, 06.2012, p. 319-332.

Research output: Contribution to journalArticle

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