Year 3 - 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 ?
Select one:
Transcription
Splicing
RNA transport
Translation
Post-translational modification
Splicing
Jane Green is a 27-year old woman with long QT syndrome diagnosed on ECG. Next generation sequencing is used to analyse 6 genes that might be responsible. Several genetic variants are identified in these genes.
Which type of genetic sequence variant is the one most likely to cause the long QT syndrome ?
Select one:
A base change in the gene promoter
A base change in the 4th intron of a gene
A base change in the 3’ untranslated region of the gene
A missense variant in exon 3 of a gene
A premature stop codon in the exon 2 of a gene
A premature stop codon in the exon 2 of a gene
Jane Green is a 27-year old woman with long QT syndrome diagnosed on ECG. Next generation sequencing is used to analyse 6 genes that might be responsible. A genetic variant is identified in the LQT1 gene.
Which piece of evidence would most strongly suggest that this variant is pathogenic ?
Select one:
The variant is identified in 1% of samples from the general population
The variant changes an arginine to a histidine in the protein sequence
The variant is a deletion of a single base in an exon of the gene
The variant is in a region of the gene that is not highly conserved
The variant is in the promoter sequence of the gene
The variant is a deletion of a single base in an exon of the gene
James Black is a 31 year old man with Hypertrophic Cardiomyopathy.
Why is Next Generation Sequencing (NGS) better than conventional sequencing as a test to analyse the 8 genes that might be responsible ?
Select one:
It allows more efficient analysis of multiple genes
It gives more accurate sequence data
It identifies more polymorphisms
It is better at identifying gene deletions
Sequence data analysis is easier
It allows more efficient analysis of multiple genes
Aileen White is a 42 year old woman who may have long QT syndrome. You perform an ECG,
How do you correct the QT interval for heart rate ?
Select one:
(QT Interval) x (Square root P-R interval)
(QT Interval) / (Square root P-R interval)
(QT Interval) / (Square root R-R interval)
(QT Interval) X (Square root R-R interval)
(QT Interval) / (Heart rate in BPM)
(QT Interval) / (Square root R-R interval)
Aileen White has long QT syndrome.
Which cardiac arrhythmia is she most at risk of ?
Select one:
Atrial fibrillation
First degree AV-block
Sinus Bradycardia
Supraventricular tachycardia
Torsades de Pointes
Torsades de Pointes
Mr and Mrs Blue have a newborn baby.
What is the most important piece of advice that will reduce the risk of sudden infant death ?
Select one:
To feed the baby just before bed time
To put them on their back to go to sleep
To put them to sleep in a Scottish baby box
To use a dummy when they go to sleep
To sleep with them in the same bed
To put them on their back to go to sleep
In a patient who has collapsed with sepsis, which finding would you expect ?
Select one:
Bradycardia with HR < 60bpm
Capilliary return of <1.5 seconds
Flushed appearance
Systolic blood pressure > 140
Tachypnoea with Respiratory rate > 22
Tachypnoea with Respiratory rate > 22
Which of the following drugs may be helpful in treating a patient with long QT syndrome
Select one:
Flecainide
Atenolol
Frusemide
Haloperidol
Erythromycin
Atenolol
What are some of the circumstances that would cause the Procurator Fiscal to order an autopsy?
Sudden and unexpected death
Responsible clinician unable to certify death
Death due to negligence
Suspected suicide
Suspected homicide
Death due to drugs
Death in custody
Death at work
Death due to medical or dental care
Death of a child
Death due to an industrial or notifiable disease
Death due to an accident
Does the family of the deceased need to consent to autopsy if it is ordered by the Procurator Fiscal?
No - no family consent is necessary
Aim is to exclude any criminality
Define the following terms…
- penetrance
- expression variance
Penetrance - the likelihood that a disease will be present if the individual has a mutation
Expression variance - refers to the range of affect that a mutation may have on an individual i.e. if something has high expression variance then lots of potential outcomes are possible as a result of the mutation
Define shock
Name some of the types of shock
Systemic physiological response to a lack of tissue perfusion
Neurogenic, cardiogenic, hypovolaemic, septic, anaphylactic
Equation for Cardiac Output
Equation for Mean Arterial Pressure
CO = Heart Rate x Stroke Volume
MAP = CO x Systemic Venous Resistance
Define sepsis
Define septic shock
Sepsis - life-threatening organ dysfunction caused by a dysregulated host response to infection
Septic shock - subset of sepsis w/ circulatory and cellular/metabolic dysfunction. By definition, resus has been attempted but patient is not responding. Much higher risk of mortality
What are the Sepsis 6?
Give 3 - Fluids, Oxygen, IV antibiotics
Take 3 - Bloods for culture, Lactate (measure of shock as it is a product of anaerobic activity), Urine output for kidney function (requires catheterisation)
What would a “saw tooth” appearance on an ECG be suggestive of?
Atrial Flutter
Atrial rate 250-350bpm
Usually regular QRS
Irregularly irregular QRS complexes, absence of p waves, an irregular baseline and an atrial rate of >350bpm. What condition is this?
Atrial fibrillation
Analyse this rhythm strip. What is the condition? How is it treated?
Rate - 100-200
Rhythm - regular
Broad, bizarre QRS complexes
Ocassional dissociated p waves
Ventricular tachycardia - if alive DC cardioversion, if dead CPR and shock
Analyse this rhythm strip. What is the condition? How is it treated?
Rate - 200-250bpm
Rhythm - can be either regular or irregular
Rapid QRS complexes appear to twist around the baseline
“Forth Rail Bridge” appearance, polymorphic ventricular tachycardia
Torsades de Pointes - may revert to VF or back to sinus rhythm
Treatment - as TdP is associated with electrolyte imbalances, first withdraw the offending drugs, infusion of Mg Sulphate, antiarrhythmics (avoid amiodarone!), electrical therapy e.g. pacemaker if required
What are the 4 diferent classes of antiarrhythmic drugs? Can you give some examples for each?
Class 1 - Na+ channel blockers
- 1a (moderate) - Quinidine, Procainamide
- 1b (weak) - Lidocaine, Phenytoin
- 1c (strong) - Flecainide, Propafenone
Class 2 - Beta blockers
- Propranolol, Metoprolol
Class 3 - K+ channel blockers
- Amiodarone
- Sotalol
Class 4 - Ca2+ channel blockers
- Verapamil
- Diltiazem
Analyse this rhythm strip. What is the condition?
Rate - dependent on intrinsic rhythm
Rhythm - regular
Regular p waves and regular QRS complexes, but there is atrioventricular dissociaton
Condition is Complete Heart Block - requires a pacemaker
On a 12 lead ECG, which leads are…
- Lateral
- Inferior
- Septal
- Anterior?
Which arteries are implicated in each?
Lateral - I, aVL, V5 and V6. Left circumflex or diagonal branches of LAD
Inferior - II, III, aVF. Right coronary (most likely) or possibly Left circumflex
Septal - V1 and V2. LAD
Anterior - V1, V2, V3 andV4. LAD
