DUGi

Genetics of channelopathies associated with sudden cardiac death

http://dugi.udg.edu/item/http:@@@@hdl.handle.net@@2072@@266140

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 themain challenges to clinicians because the majority of diseases associated with sudden cardiac deathare characterized by incomplete penetrance and variable expressivity. Hence, patients may be unawareof 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 unresolvedcases, channelopathies are considered the first potential cause of death. Since all these diseases are ofgenetic origin, family members could be at risk, despite being asymptomatic. Genetics has alsobenefited from technological advances, and genetic testing has been incorporated into the suddendeath field, identifying the cause in clinically affected patients, asymptomatic family members andpost-mortem cases without conclusive diagnosis. This review focuses on recent advances in thegenetics of channelopathies associated with sudden cardiac death

Hamad bin Khalifa University Press