Sudden Death Flashcards
What are motifs in genetics?
sequences which indicate where splicing should take place
What is the most likely genetic change to cause long QT syndrome?
premature stop codon in the exon
Why is NGS better than conventional sequencing?
allows more efficient analysis of multiple genes
What is PCR used for?
looking for one gene
What is the penetrance/frequency of Mendelian disorders?
high penetrance
low population frequency
What are good drugs for hypercholesterolaemia?
PCSK9 inhibitors
What is the major side-effect of statins?
myalgia
How do you calculate the correct QT interval for long QT syndrome?
QT interval/square root R-R interval
What arrhythmia are people with long QT at risk of?
Torsades de Pointes
What are the observations in sepsis?
tachycardia
low BP
longer capillary return
tachypnoea
What is the treatment for long QT?
beta blockers and an ICD if recurrent
What is shock?
condition of inadequate perfusion to sustain normal organ function with resulting organ dysfunction and eventual death
What are the types of shock?
hypovolaemic cardiogenic obstructive distributive cytotoxic
What is the cause of hypovolaemic shock?
loss of circulating volume with fall in CO due to hemorrhage, third space loss (eg massive inflammation) or severe dehydration
What is the compensatory mechanism for hypovolaemic shock?
baroreceptor reflexes (receptors in carotid sinus and aortic arch inhibit parasympathetic and increase sympathetic) –> sympathetic neurohormonal response (chronotropy and inotropy with adrenaline, angiotensin, vasopressin etc which causes fluid redirection and lactic acidosis) –> capillary absorption of interstitial fluid –> endocrine response (renin is released and then angiotensin 2 enhances vasoconstriction and ADH secretion so renal reabsorption of Na and H2O)
What is cardiogenic shock?
failure of heart to pump well so reduced CO, eg complication of acute MI, myocarditis or acute valve pathology
What is the presentation of a patient with cardiogenic shock?
hypotension, fatigue, syncope, pulmonary oedema, high JVP and hepatic congestion (poor forward flow and backpressure)
How is cardiogenic shock treated?
increase inotropy by beta and dopaminergic stimulation with adrenaline or dopamine or an intra-aortic balloon pump can be used
What is obstructive shock?
physical obstruction to heart or great vessels which impairs cardiac filling eg PE or tamponade
What is distributive shock?
septic, anaphylactic and neurogenic shock ie uncontrolled vasodilation and reduction in SVR overcomes the compensatory mechanisms of increased CO
What is septic shock?
- bacterial endotoxins so there are rising lactate levels
- vasopressors needed to improve perfusion
What is anaphylactic shock?
- mast cell release and degranulation or histaminergic vasodilators
- adrenaline is needed to vasoconstrict and stabilise mast cells
- diagnosis is confirmed with serum mast cell tryptase levels
What is neurogenic shock?
- loss of thoracic sympathetic outflow due to spinal injury and there will be bradycardia too
- treatment is with dopamine and vasopressors