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Int. J. Mol. Sci. 2018, 19(3), 692; https://doi.org/10.3390/ijms19030692

Ion Channel Disorders and Sudden Cardiac Death

1
Group of Biomedical Research in Heart Diseases, Hospital del Mar Medical Research Institute (IMIM), C/Doctor Aiguader 88, 08003 Barcelona, Spain
2
Cardiology Department, Hospital del Mar, Passeig Marítim 25-29, 08003 Barcelona, Spain
*
Author to whom correspondence should be addressed.
Received: 5 February 2018 / Revised: 22 February 2018 / Accepted: 23 February 2018 / Published: 28 February 2018
(This article belongs to the Special Issue Ion Transporters and Channels in Physiology and Pathophysiology)
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Abstract

Long QT syndrome, short QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia are inherited primary electrical disorders that predispose to sudden cardiac death in the absence of structural heart disease. Also known as cardiac channelopathies, primary electrical disorders respond to mutations in genes encoding cardiac ion channels and/or their regulatory proteins, which result in modifications in the cardiac action potential or in the intracellular calcium handling that lead to electrical instability and life-threatening ventricular arrhythmias. These disorders may have low penetrance and expressivity, making clinical diagnosis often challenging. However, because sudden cardiac death might be the first presenting symptom of the disease, early diagnosis becomes essential. Genetic testing might be helpful in this regard, providing a definite diagnosis in some patients. Yet important limitations still exist, with a significant proportion of patients remaining with no causative mutation identifiable after genetic testing. This review aims to provide the latest knowledge on the genetic basis of cardiac channelopathies and discuss the role of the affected proteins in the pathophysiology of each one of these diseases. View Full-Text
Keywords: sudden cardiac death; channelopathies; ion channel; primary electrical disorders; long QT syndrome; short QT syndrome; Brugada syndrome; catecholaminergic polymorphic ventricular tachycardia sudden cardiac death; channelopathies; ion channel; primary electrical disorders; long QT syndrome; short QT syndrome; Brugada syndrome; catecholaminergic polymorphic ventricular tachycardia
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).
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Garcia-Elias, A.; Benito, B. Ion Channel Disorders and Sudden Cardiac Death. Int. J. Mol. Sci. 2018, 19, 692.

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