Sudden Death Flashcards

1
Q

In the central dogma, which process is most likely to be affected by a mutation that changes the first base in an intron?

A

Splicing

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2
Q

Which genetic mutation is most closely linked with long QT syndrome?

A

Premature stop codon in exon 2 of a gene

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3
Q

How is QT interval corrected for heart rate?

A

(QT interval) / (sqr root R-R interval)

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4
Q

Which cardiac arrhythmia is most associated with long QT syndrome?

A

Torsades de Pointes

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5
Q

What is the most important piece of advice to give the parents of a newborn to prevent SUDI?

A

Put the newborn on their back to go to sleep

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6
Q

What is the major drug class treatment for long QT syndrome?

A

Beta-blockers (e.g. atenolol)

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7
Q

What are the two types of post-mortem?

A
Hospital: consent required, less common, may be required for donation (e.g. Alzheimer's research)
Procurator fiscal (coroner in England/Wales): legally required, no consent needed, used in suspicious circumstances
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8
Q

What are the eight reversible causes of cardiac arrest?

A

4 H’s: hypoxia, hypovolaemia, hypo / hyper-metabolic (e.g. K+), hypothermia
4 T’s: thrombosis, tension ptx, tamponade, toxins

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9
Q

Define shock.

A

A condition of inadequate perfusion to sustain normal organ function. O2 delivery or distribution is ineffective to meet metabolic demands

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10
Q

Name the main types of shock.

A
Hypovolaemic (haemorrhagic or non)
Cardiogenic
Obstructive
Distributive (septic, anaphylactic, neurogenic)
Cytotoxic
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11
Q

Describe the clinical features and arrow plot of cardiogenic shock.

A
  • poor forward flow (hypotension, fatigue, syncope)
  • back pressure (pulmonary oedema, raised JVP, hepatic congestion)
  • reduced BP and CO
  • increased HR and CVP/PWCP
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12
Q

Describe the causes of, and arrow plot of, hypovolaemic shock.

A
  • haemorrhagic (GI bleed, postpartum haemorrhage);
  • non-haemorrhagic (water - D&V, burns, renal disease)
  • reduced CO, BP, CVP/PCWP
  • increased HR
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13
Q

Describe the pathology, arrow plot and management of septic shock.

A
  • endotoxin mediated capillary dysfunction
  • increased CO, temp, and HR
  • decreased BP, CVP/PCWP
  • measure lactate as a marker of hypoperfusion BEFORE hypotension
  • sepsis 6, fluids, vasopressor (NA)
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14
Q

Describe the pathology, arrow plot and management of anaphylactic shock.

A
  • mast cell release of histaminergic vasodilators
  • reduced CO, BP, CVP/PCWP
  • increased HR
  • adrenaline, antihistamine (chlorphenamine) + steroids
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15
Q

Describe the pathology, arrow plot and management of neurogenic shock.

A
  • loss of thoracic sympathetic outflow
  • decreased HR, CO, BP, temp, and CVP/PCWP
  • vasopressors
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16
Q

Name the main causes of obstructive shock.

A

Cardiac tamponade, PE, tension ptx

17
Q

What is the main cause and pathology for cytotoxic shock?

A
  • Uncoupling of tissue O2 delivery and subsequent reduced mitochondrial uptake
  • secondary to CN or CO poisoning
18
Q

How do physiological parameters change as haemorrhagic shock worsens?

A
  • blood loss increases
  • HR increases
  • BP decreases
  • pulse pressure decreases
  • RR increases
  • urine output decreases
  • CNS/mental status deteriorates
19
Q

Name and describe the four main compensatory mechanisms of hypovolaemic shock.

A
  • baroreceptor reflex (carotid sinus CN IX; aortic arch CN X [reduces parasymp outflow, enhances symp])
  • neurohormonal (adrenergic [adrenaline, NA], lactic acidosis [chemoreceptors], increased vasodilators in decompensated)
  • capillaries (reduced hydrostatic pressure, inward net flow)
  • renal (JGA release of renin, angio II -> H2O and Na reabsorption)
20
Q

What is the difference between clinical and biological death?

A

Clinical death is reversible with resus; biological death is not

21
Q

What is the name for the body’s resistance to defib current?

A

Transthoracic impedance, 25-180 ohms

22
Q

Describe the management for shockable and non-shockable cardiac arrest.

A

Shockable (VF, pulseless VT) -> 3 shocks, adrenaline, amiodarone
Non-shockable (PEA, asystole) -> adrenaline every 3-5 min

23
Q

Name the 6 steps of ECG interpretation.

A
  1. is electrical activity present?
  2. rate (= 300/R-R interval)
  3. is the QRS complex regular or irregular?
  4. is the QRS complex narrow or broad?
  5. is atrial activity present?
  6. is atrial activity related to ventricular activity?
24
Q

What is the normal QT interval?

A

<440ms (11 small boxes)

>320ms (8 small boxes)

25
Q

What are the names for the genetic syndromes associated with long QT syndrome?

A

AD: Romano Ward; Anderson-Twail and Timothy syndromes have extra-cardiac involvement
AR: Jervell and Lange-Neilsen syndrome

26
Q

What are the ECG findings associated with Brugada syndrome?

A

ST elevation in V1-3

Right BBB

27
Q

Name the mutations associated with CPVT.

A

AD: RyR2 (ryanadine receptor)
AR: CASQ2 (calsequestrin)

28
Q

Which cardiac genetic syndrome is associated with epsilon waves?

A

ARVC

29
Q

Name the 5 steps of identifying a causative mutation.

A
  1. is it in the coding part?
  2. does it affect the gene?
  3. exclude polymorphisms
  4. is the mutation in a gene known to cause the disease?
  5. does the pattern of inheritance match?
30
Q

Define:

  • miscarriage
  • stillbirth
  • SUDI
  • SIDS
A
  • miscarriage: death <24wk
  • stillbirth: death 24wk-birth
  • SUDI: ‘unknown’ death of an infant (not investigated yet)
  • SIDS: diagnosis of exclusion (after investigation of SUDI)
31
Q

Name some risk factors associated with stillbirth.

A

maternal infection, lifestyle, extremes of age, pre-eclampsia, diabetes, obesity, obstetric cholestasis, multiple or prolonged pregnancy, antepartum haemorrhage, maternal antibodies

32
Q

When should an infant immediately be delivered?

A

Sepsis, pre-eclampsia, placental abruption, membrane rupture

33
Q

Which two conditions are mothers who have suffered stillbirth much more likely to develop?

A

Depression (x4)

PTSD (x7)

34
Q

Name some risk factors associated with SUDI.

A

Trinity:

  • critical development period (2-4 months)
  • vulnerable infant (preterm <37wk, maternal smoking)
  • exogenous stress (prone position, overheating, head covering, co-sleeping, infection)