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Ion Channel Disorders and Sudden Cardiac Death
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Journal Article
Ion Channel Disorders and Sudden Cardiac Death
2018
Overview
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.
Publisher
MDPI AG,MDPI
Subject
Arrhythmias, Cardiac - etiology
/ Arrhythmias, Cardiac - metabolism
/ Arrhythmias, Cardiac - physiopathology
/ Brugada Syndrome - metabolism
/ Brugada Syndrome - physiopathology
/ Channelopathies - complications
/ Channelopathies - metabolism
/ Death, Sudden, Cardiac - etiology
/ Genetic Predisposition to Disease
/ Humans
/ Long QT Syndrome - metabolism
/ Long QT Syndrome - physiopathology
/ Mutation
/ Review
/ Tachycardia, Ventricular - etiology
