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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 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

Global Cardiology Science and Practice, 2015, núm. 3, p. 39

Hamad bin Khalifa University Press

Author: Campuzano Larrea, Oscar
Sarquella Brugada, Geòrgia
Brugada, Ramon
Brugada Terradellas, Josep
Date: 2015 October 13
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
Format: application/pdf
Citation: 025068
ISSN: 2305-7823
Document access: http://hdl.handle.net/10256/12549
Language: eng
Publisher: Hamad bin Khalifa University Press
Collection: Reproducció digital del document publicat a: http://dx.doi.org/10.5339/gcsp.2015.39
Articles publicats (D-CM)
Is part of: Global Cardiology Science and Practice, 2015, núm. 3, p. 39
Rights: Attribution 3.0 Spain
Rights URI: http://creativecommons.org/licenses/by/3.0/es/
Subject: Mort sobtada
Sudden death
Arítmia
Arrhythmia
Canalopatíes
Channelopathies
Title: Genetics of channelopathies associated with sudden cardiac death
Type: info:eu-repo/semantics/article
Repository: DUGiDocs

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