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Review
. 2015 Oct 13;2015(3):39.
doi: 10.5339/gcsp.2015.39. eCollection 2015.

Genetics of channelopathies associated with sudden cardiac death

Oscar Campuzano  1 , Georgia Sarquella-Brugada  2 , Ramon Brugada  1 , Josep Brugada  3
Affiliations
Review

Genetics of channelopathies associated with sudden cardiac death

Oscar Campuzano et al. Glob Cardiol Sci Pract. .

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.

Keywords: Sudden cardiac death; arrhythmias; channelopathies; genetics.

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Figures

Figure 1.
Figure 1.
Electrocardiograms showing A. Long QT Syndrome B. Brugada Syndrome C. Short QT Syndrome, and D. Catecholaminergic Polymorphic Ventricular Tachycardia.
Figure 2.
Figure 2.
Diagram of overlapping genes associated with main cardiac channelopathies. Short QT Syndrome (SQT), Long QT Syndrome (LQT), Brugada Syndrome (BrS), and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT).
See this image and copyright information in PMC

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