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Genetics of channelopathies associated with sudden cardiac death

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

Author: Campuzano Larrea, Oscar
Sarquella Brugada, Georgia
Brugada, Ramon
Brugada Terradellas, Josep
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 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
Document access: http://hdl.handle.net/2072/266140
Language: eng
Publisher: Hamad bin Khalifa University Press
Rights: Attribution 3.0 Spain
Rights URI: http://creativecommons.org/licenses/by/3.0/es/
Subject: Mort sobtada
Sudden death
Ar铆tmia
Arrhythmia
Canalopat铆es
Channelopathies
Title: Genetics of channelopathies associated with sudden cardiac death
Type: info:eu-repo/semantics/article
Repository: Recercat

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