2013
DOI: 10.1016/j.crvasa.2013.09.003
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What is new in Brugada syndrome?

Abstract: Syndrom Brugadových (BrS) a syndrom dlouhého QT jsou nejčastěji diagnostikované, geneticky podmíněné arytmické syndromy. Syndrom Brugadových je způsoben primární poruchou elektrické srdeční aktivity, která se manifestuje elevacemi úseku ST ve svodech V 1 -V 3 a zvýšeným rizikem náhlé smrti u nemocných bez strukturálního srdečního onemocnění. V tomto článku je diskutována genetická heterogenita syndromu, jeho patofyziologie, EKG diagnostika a léčba, včetně nejnovějších poznatků posledních let. Je zde rovněž pop… Show more

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“…2 It is a genetic disorder with alterations in the SCN5A gene (10-30% cases) and 300 mutations have been described. 3,4 There could be other genes affected, which can cause a variant of Brugada syndrome, including the genes coding for alpha1-and beta2b-subunits of the L-type calcium channel (CACNA1C and CACNB2), which are thought to cause a syndrome of precordial ST elevation, sudden death, and short QT interval. 5,6 The most common manifestations is syncope or cardiac arrest, which occur during sleep, but many patients remain asymptomatic.…”
Section: Introductionmentioning
confidence: 99%
“…2 It is a genetic disorder with alterations in the SCN5A gene (10-30% cases) and 300 mutations have been described. 3,4 There could be other genes affected, which can cause a variant of Brugada syndrome, including the genes coding for alpha1-and beta2b-subunits of the L-type calcium channel (CACNA1C and CACNB2), which are thought to cause a syndrome of precordial ST elevation, sudden death, and short QT interval. 5,6 The most common manifestations is syncope or cardiac arrest, which occur during sleep, but many patients remain asymptomatic.…”
Section: Introductionmentioning
confidence: 99%