Sudden Death Flashcards
why does genetics have a role in cardiomyopathy and other syndromes?
genes make the proteins which make cardiac muscle cells
what is mutation penetrance?
proportion of individuals carrying a particular variant (or allele) of a gene (the genotype) that also express an associated trait (the phenotype)
which process is most likely to be affected by a mutation that changes the first base in an intron
splicing
introns/exons code for proteins
exons
if there is a base change in the middle of an intron, will this affect the whole gene expression?
no
how many polymorphisms do you have?
3 million
what genetic sequence variant is the most likely to cause long QT syndrome
premature stop codon in an exon
what effect will a deletion of a single base have?
it will cause a deletion at translation thus causing a frameshift mutation
what cardiac arrhythmia is caused by long qt syndrome?
torsades de pointes
what is the main piece of advice given to parents to minimise risk of sudden infant death?
put them on their back to go to sleep
wide QRS complexes are a feature of VT T or F
T
Tx long QT syndrome
b blockers eg atenolol
what do b blockers do?
inhibit the sympathetic activation of β-adrenergic receptors
