Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances.
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.
Cardiovascular Genetics Center, IDIBGI, Girona 17190, Spain. afernandez@gencardio.com.
Anna
A
Fernández-Falgueras
Arrhythmias Unit, Hospital Sant Joan de Déu, University of Barcelona, Barcelona 08950, Spain. georgia@brugada.org.
Georgia
G
Sarquella-Brugada
Arrhythmias Unit, Hospital Sant Joan de Déu, University of Barcelona, Barcelona 08950, Spain. jbrugada@clinic.ub.es.
Josep
J
Brugada
Cardiovascular Genetics Center, IDIBGI, Girona 17190, Spain. ramon@brugada.org.|Medical Sciences Department, School of Medicine, University of Girona, Girona 17071, Spain. ramon@brugada.org.|Familial Cardiomyopathies Unit, Hospital Josep Trueta, Girona 17007, Spain. ramon@brugada.org.
Ramon
R
Brugada
Cardiovascular Genetics Center, IDIBGI, Girona 17190, Spain. oscar@brugada.org.|Medical Sciences Department, School of Medicine, University of Girona, Girona 17071, Spain. oscar@brugada.org.
Oscar
O
Campuzano
arrhythmias; channelopathies; genetics; sudden cardiac death