Sudden Death Flashcards
In the central dogma, which process is most likely to be affected by a mutation that changes the first base in an intron?
splicing
Signal of whether to splice or not is in the first few bases after or before an exon= first and last bases of an intron
will a premature stop in the exon 2 of a gene cause a big effect
yes- affects everything after it
will a deletion of a base in a exon have a big effect
will cause a frame shift mutation
does a variant being identified in 1% of general population make it more or less likely to be pathogenic
less- more likely to be a polymorphism
Why is Next Generation Sequencing (NGS) better than conventional sequencing as a test to analyse 8 genes
It allows more efficient analysis of multiple genes, analyses every gene in the genome
How do you correct the QT interval for heart rate?
(QT Interval) / (Square root R-R interval)
what is the Q-T interval
period between ventricular depolarisation and repolarisation
which cardiac arrhythmia does long QT syndrome predispose you for
torsades de pointes
what treatment for torsades de pointes
magnesium sulphate
What is the most important piece of advice that will reduce the risk of sudden infant death?
To put them on their back to go to sleep
what signs on ECG of VT
QRS complexes last longer than 120ms
why do you get long QRS’s in VT
ventricles taking longer to depolarise and contract as impulse starting in muscle and disseminating in muscle through myocyte to myocyte not through nerve fibres- spreads more slowly= ectopic start to ventricular tachycardia.
what does SVT look like on ECG
fate rate
no P waves - (no effective atrial depolarisation)
narrow QRS
what drug for long QT syndrome
beta blockers- atenolol
do you need consent from family/NOK for a hospital autopsy
yes
