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Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances

Cardiovascular Genetics Center, IDIBGI, Girona 17190, Spain
Arrhythmias Unit, Hospital Sant Joan de Déu, University of Barcelona, Barcelona 08950, Spain
Medical Sciences Department, School of Medicine, University of Girona, Girona 17071, Spain
Familial Cardiomyopathies Unit, Hospital Josep Trueta, Girona 17007, Spain
Author to whom correspondence should be addressed.
Academic Editors: Fabio Franciolini and Luigi Catacuzzeno
Received: 22 November 2016 / Revised: 17 January 2017 / Accepted: 20 January 2017 / Published: 29 January 2017
(This article belongs to the Special Issue Ion Channels and Disease: Genetic and Transcriptional Channelopathies)
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Sudden cardiac death poses a unique challenge to clinicians because it may be the only symptom of an inherited heart condition. Indeed, inherited heart diseases can cause sudden cardiac death in older and younger individuals. Two groups of familial diseases are responsible for sudden cardiac death: cardiomyopathies (mainly hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmogenic cardiomyopathy) and channelopathies (mainly long QT syndrome, Brugada syndrome, short QT syndrome, and catecholaminergic polymorphic ventricular tachycardia). This review focuses on cardiac channelopathies, which are characterized by lethal arrhythmias in the structurally normal heart, incomplete penetrance, and variable expressivity. Arrhythmias in these diseases result from pathogenic variants in genes encoding cardiac ion channels or associated proteins. Due to a lack of gross structural changes in the heart, channelopathies are often considered as potential causes of death in otherwise unexplained forensic autopsies. The asymptomatic nature of channelopathies is cause for concern in family members who may be carrying genetic risk factors, making the identification of these genetic factors of significant clinical importance. View Full-Text
Keywords: sudden cardiac death; arrhythmias; channelopathies; genetics sudden cardiac death; arrhythmias; channelopathies; genetics

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Fernández-Falgueras, A.; Sarquella-Brugada, G.; Brugada, J.; Brugada, R.; Campuzano, O. Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances. Biology 2017, 6, 7.

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