title: Genetics of channelopathies associated with sudden cardiac death.
abstract: Recent technological advances in cardiology have resulted in new guidelines for the diagnosis, treatment and prevention of diseases. Despite these improvements, sudden death remains one of the main challenges to clinicians because the majority of diseases associated with sudden cardiac death are characterized by incomplete penetrance and variable expressivity. Hence, patients may be unaware of their illness, and physical activity can be the trigger for syncope as first symptom of the disease. Most common causes of sudden cardiac death are congenital alterations and structural heart diseases, although a significant number remain unexplained after comprehensive autopsy. In these unresolved cases, channelopathies are considered the first potential cause of death. Since all these diseases are of genetic origin, family members could be at risk, despite being asymptomatic. Genetics has also benefited from technological advances, and genetic testing has been incorporated into the sudden death field, identifying the cause in clinically affected patients, asymptomatic family members and post-mortem cases without conclusive diagnosis. This review focuses on recent advances in the genetics of channelopathies associated with sudden cardiac death.
authors.affiliation: Cardiovascular Genetics Center, University of Girona - IDIBGI, Spain ; Department of Medical Sciences, School of Medicine, University of Girona, Spain.
authors.forename: Oscar
authors.initials: O
authors.lastname: Campuzano
authors.affiliation: Unit of Arrhythmias, Hospital Sant Joan de Deu, University of Barcelona, Spain.
authors.forename: Georgia
authors.initials: G
authors.lastname: Sarquella-Brugada
authors.affiliation: Cardiovascular Genetics Center, University of Girona - IDIBGI, Spain ; Department of Medical Sciences, School of Medicine, University of Girona, Spain.
authors.forename: Ramon
authors.initials: R
authors.lastname: Brugada
authors.affiliation: Unit of Arrhythmias, Hospital Sant Joan de Deu, University of Barcelona, Spain ; Unit of Arrhythmias, Hospital Clinic de Barcelona, University of Barcelona, Spain.
authors.forename: Josep
authors.initials: J
authors.lastname: Brugada
keywords: Sudden cardiac death; arrhythmias; channelopathies; genetics