genetics of arrhythmias Flashcards
congenital long QT syndrome
associated with a high risk of sudden cardiac death due to ventricular tachyarrhythmias.
what can congenital long QT syndrome be caused by
drugs or conditions that delay ventricular repolarisation
autosomal dominant forms of congenital long QT syndrome
romano ward syndrome
extra cardiac feature: Anderson-Tawil syndrome, Timothy syndrome.
autosomal recessive forms of congenital long QT syndrome
jervell and lange-neilsen syndrome
what is jervell and langeneilsen syndrome associated with
deafness
what do you treat torsades de pointes with
magnesium sulphate
what ion channel mutation is Brugada Syndrome associated with
SNC5A - Na
CACN1Ac - Ca
autosomal dominant
who is Brugada Syndrome more common in
young males
what can trigger VF in brugada
rest or sleep
fever
excessiev alcohol
what is there a risk of with brugada
polymorphic VT and VF
AF common
Brugada Syndrome ECG
ST elevation and T wave inversion
RBBB
ECG findings may be intermittent and change over time
Diagnostic ECG changes may seen only with provocative testing with flecainide or ajmaline (drugs that block the cardiac sodium channel)
Brugada Syndrome treatmnet
lifestyle changes ICD implantation
Hypertrophic Cardiomyopathy
inherited condition that produces hypertrophy of the myocardium in the absence of an alternate cause
what gene mutation is associated with HCM
sarcomeric genes
HCM pulse
jerky pulsus bisferiens
Arrhythmogenic Right Ventricular Cardiomyopathy
fibrofatty replacement of the RV myocardium
ARVC genetic defects
in the desmosomes
ARVC typically involves which ventricle
right
ARVC treatment
b blockers ICD implantation
catecholamingeric polymorphic ventircualr tachycardia
due to mutations in Ca channel proteins, heart may enter stae of ventricuarl arrhythmia due to release of catecholamines from nerve endings on heart msucle and andrenal galnds nto circulation
suden death or self terminate
