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Brugada Syndrome: Difference between revisions
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==General features== | ==General features== | ||
*The diagnosis is based on ECG findings. | *The diagnosis is based on ECG findings. | ||
*It is an inheritable cardiac arrhythmia syndrome with an autosomal dominant inheritance. | *It is an inheritable cardiac arrhythmia <cite>Brugada2</cite> syndrome with an autosomal dominant inheritance. | ||
*Males are often more symptomatic than females, probably by the influence of sex hormones on cardiac arrhythmias and/or ion channels. | *Males are often more symptomatic than females, probably by the influence of sex hormones on cardiac arrhythmias and/or ion channels. | ||
*The arrhythmias typically occur in patients between 30-40 years of age and often during rest or while sleeping. | *The arrhythmias typically occur in patients between 30-40 years of age and often during rest or while sleeping. | ||
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==Genetic diagnosis== | ==Genetic diagnosis== | ||
In only ~30% genetic variants can be detected in the SCN5A gene, which results in a loss of function of the cardiac sodium channel function. This impairs the fast upstroke in phase 0 of the action potential and leads to conduction slowing in the heart. In the remaining patients sometimes cardiac calcium channel genes (CACNxxx) or potassium channel genes (KCNxx) are involved, but in most of the Brugada syndrome patients no genetic defects are found. | In only ~30% genetic variants can be detected in the SCN5A<cite>SCN5A</cite> gene, which results in a loss of function of the cardiac sodium channel function. This impairs the fast upstroke in phase 0 of the action potential and leads to conduction slowing in the heart. In the remaining patients sometimes cardiac calcium channel genes (CACNxxx) or potassium channel genes (KCNxx) are involved, but in most of the Brugada syndrome patients no genetic defects are found.<cite>FINGER</cite> | ||
==Risk Stratification== | ==Risk Stratification== | ||
[[File:PlaatjesBrS_pyramid.svg|thumb|right|400px]] | [[File:PlaatjesBrS_pyramid.svg|thumb|right|400px]] | ||
Brugada syndrome patients with symptoms (a history of VT/VF or cardiac syncope) and spontaneous coved-type ECG are at risk for future arrhythmic events. However, risk stratification in asymptomatic Brugada syndrome patients is still ill-defined. Family history of sudden cardiac death, male gender and inducibility of VT/VF during programmed electrical stimulation is not consistently shown to be a risk factor. Therefore, risk stratification is best done by an expert cardio-genetics cardiologist. | Brugada syndrome patients with symptoms (a history of VT/VF or cardiac syncope) and spontaneous coved-type ECG are at risk for future arrhythmic events. However, risk stratification<cite>strat</cite> in asymptomatic Brugada syndrome patients is still ill-defined. Family history of sudden cardiac death, male gender and inducibility of VT/VF during programmed electrical stimulation<cite>PRELUDE</cite> is not consistently shown to be a risk factor. Therefore, risk stratification is best done by an expert cardio-genetics cardiologist.<cite>priori</cite> | ||
<cite>priori</cite> | |||
==Treatment== | ==Treatment== | ||