Garcia-Elias Heras, AnnaBenito Villabriga, Begoña2018-11-212018-11-212018Garcia-Elias A, Benito B. Ion Channel Disorders and Sudden Cardiac Death. Int J Mol Sci. 2018 Feb 28;19(3). pii: E692. DOI: 10.3390/ijms190306921422-0067http://hdl.handle.net/10230/35806Long 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.application/pdfengCopyright © 2018 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).Mort sobtadaCor -- Malaltiesinfo:eu-repo/semantics/articlehttp://dx.doi.org/10.3390/ijms19030692Brugada syndromeCatecholaminergic polymorphic ventricular tachycardiaChannelopathiesIon channellong QT syndromePrimary electrical disordersShort QT syndromeSudden cardiac deathinfo:eu-repo/semantics/openAccess