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RACP Written 2018 > Cardiology - Non-QT Channelopathies > Flashcards

Cardiology - Non-QT Channelopathies Flashcards

1
Q

Brugada: Who is it more common in?

A

Male > Female
Asian
Peak prevalence of sudden cardiac death in 4th decade (ie: 30’s)

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2
Q

What mutation is most commonly seen in Brugada?

A

10-30% have a LOSS-of-function mutation in SCN5A gene encoding voltage gated Na channel

with AUTOSOMAL DOMINANT inheritance

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3
Q

What other genes (other than the most common type) are seen in Brugada?

A

Alpha-1 and Beta-2 subunits of L-type Calcium Channel
(= CACNA1C and CACNB2)

GPD1-L
SCN1B

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4
Q

When do Brugada patients most commonly present?

A

After syncope or cardiac arrest

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5
Q

When do arrythmias commonly occur in Brugada?

A

Typically in the nighttime with nocturnal nightmares and thrashing

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6
Q

What can unmask a Brugada on an ECG?

A
  • Febrile
  • Hyper or Hypo kalaemia
  • HypERcalcaemia
  • Alcohol or cocaine

The unmasking challenge with Flecainide

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7
Q

What arrythmias is Brugada associated with?

A

AF

Polymorphic VT

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8
Q

ECG features of Brugada?

A
  • Broad P with some PQ prolongation
  • Convex/coved ST segment elevation >2mm in one or more of V1-V3
  • TWI in V1-V3
  • J point elevation

+/- partial RBBB

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9
Q

Which antiarrythmic do we use to ‘unmask’ Brugada?

A

Flecainide

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10
Q

Management of Brugada?

A

ICD if syncope or ventricular arrythmias

Quinidine if recurrent syncope or ICD shocks

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11
Q

Prognosis of Brugada?

A

8% have VF or sudden death within 2 years

Mean age of death 41 years old

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12
Q

What inheritance and genes are involved in Catecholaminergic Polymorphic VT (CPVT)

A

Autosomal DOMINANT (prevalence 1 in 10,000)

RYR2 (ryanodine receptor) in myocardium sarcoplasmic reticulum

Calsequestin-2 is calcium binding protein in sarcoplasmic reticulum

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13
Q

Catecholaminergic Polymorphic VT (CPVT) has what clinical features

A
  • Sudden cardiac death
  • Family history
  • Symptoms begin <20 years old
  • Provokable arrythmias on EXERCISE or when given ADRENALINE
    (–>polymorphic VT or alternating QRS)
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14
Q

In catecholaminergic polymorphic VT (CPVT) what provokes arrythmias and what types of arrythmias?

A

Provoked by: Exercise & adrenaline

Polymorphic VT
Alternating QRS

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15
Q

Management of catecholaminergic polymorphic VT (CPVT)?

A
  • Flecainide or verapamil
  • Betablocker plus ICD
  • Abstain from exercise
  • Sympathectomy (ESPECIALLY if ICD insertion results in MORE VT)
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16
Q

What channelopathy must you think of if a patient is from Italian or Greece (especially VENETO region of Italy)?

A

Arrythmogenic Right Ventricular Cardiomyopathy / Dysplasia (ARVC/D)

17
Q

How common is Arrythmogenic Right Ventricular Cardiomyopathy / Dysplasia (ARVC/D)

A

1 in 1000-2000

18
Q

What is the inheritance of Arrythmogenic Right Ventricular Cardiomyopathy / Dysplasia (ARVC/D)

A

Autosomal DOMINANT with variable penetrance (50%)

19
Q

What is Naxos Disease?

A

A variant of Arrythmogenic Right Ventricular Cardiomyopathy / Dysplasia (ARVC/D)

  • Autosomal RECESSIVE mutation on Ch17q21 with 100% penetrance
  • Associated with:
  • –ARVC/D
  • –Wooly hair
  • –Palmoplantar keratosis
20
Q

The disease characterised by ARVC/D, wooly hair and palmoplantar keratosis is what? And what gene?

A

Naxos disease
Autosomal RECESSIVE
Ch17q21

21
Q

What pathophysiology features are seen in Arrythmogenic Right Ventricular Cardiomyopathy / Dysplasia (ARVC/D)

A

Right ventricle myocardium gets replaced by fatty and fibrofatty tissue
Due to mutations in DESMOSOMAL proteins at CELL-TO-CELL JUNCTIONS

22
Q

What genes are associated with ARVC/D

A 
JUP: Plakoglobin
DSP: Desmoplakin
PKP2: Plakophilin-2 (EARLIER ONSET)
DSG2: Desmoglein-2
DSC2: Desmocollin-2
TMEM43
23
Q

Which ARVC/D associated gene is also associated with an earlier onset?

A

PKP2: plakophilin-2

24
Q

How does Arrythmogenic Right Ventricular Cardiomyopathy / Dysplasia (ARVC/D) present clinically?

A

Presents in 2nd-5th decades
Usually Asymptomatic

But present with palpitations / syncope / sudden cardiac death / heart failure

25
Q

What type of arrythmias result from Arrythmogenic Right Ventricular Cardiomyopathy / Dysplasia (ARVC/D)

A

25% get supraventricular arrythmias (AF or flutter)

Ventricular ectopics
MONOMORPHIC VT

26
Q

ECG findings in Arrythmogenic Right Ventricular Cardiomyopathy / Dysplasia (ARVC/D)

A
  • Epsilon wave in V1-V3 in 30%
  • TWI in V1-V3
  • LBBB or VT
  • > 200PVCs in 24 hours
27
Q

Echo findings in Arrythmogenic Right Ventricular Cardiomyopathy / Dysplasia (ARVC/D)

A

Mild global dilation or reduced RV EF but with NORMAL LVEF

Dilatation of RV
Regional RV hypokinesis

28
Q

Which imaging form is best for Arrythmogenic Right Ventricular Cardiomyopathy / Dysplasia (ARVC/D)

A

MRI because you will see the RV fibrofatty changes better

29
Q

Management of Arrythmogenic Right Ventricular Cardiomyopathy / Dysplasia (ARVC/D)

A
  • Abstain from exercise (which accelerates disease progression)
  • ICD if cardiac arrest or VT
  • beta blockers FIRST LINE (most commonly SOTOLOL)
  • amiodarone is alternative to sotolol
  • Catheter ablation if recurrent VT
30
Q

What is the underlying pathophysiological features of Accelerated Idioventricular Rhythm (AIVR / AIVD)

A

Enhanced automaticity of His-Purkinje fibers and/or myocardium
+/- vagal excess
+/- decreased sympathetic activity

31
Q

How is MI associated with Accelerated Idioventricular Rhythm (AIVR / AIVD)

A
  • 15-20% incidence in treated MI with PCI
  • Acts as a marker of coronary reopening
  • Associated with MORE EXTENSIVE myocardial damage
32
Q

Triggers of Accelerated Idioventricular Rhythm (AIVR / AIVD)

A 
Myocardial ischaemia (most common)
Buerger Disease
Congenital heart disease
Dilated cardiomyopathy
Myocarditis
Post resuscitaiton
Drugs: cocaine and digoxin
33
Q

Which drugs act as triggers of Accelerated Idioventricular Rhythm (AIVR / AIVD)

A

Cocaine and digoxin

34
Q

What is Buerger’s Disease?

What is it associated with?

A

Also known as Thromboangiitis Obliterans which is small and medium vessel vasculitis

STRONG association with smoking

35
Q

What are the features of Buerger’s Disease?

A
  • Extremity ischaemia (intermittent claudication / ulcers)
  • Raynaud’s Phenomenon
  • Superficial thrombophlebitis
36
Q

ECG seen in Accelerated Idioventricular Rhythm (AIVR / AIVD)

A
  • Wide QRS
  • Starts as long coupled PVCs
  • Terminates once sinus rate surpasses that of the AIVD
37
Q

Management of Accelerated Idioventricular Rhythm (AIVR / AIVD)

A

Usually self limited
Need to assess for MI

If unstable then use atropine to increase the underlying sinus rate so that it can shortcircuit the AIVD

RACP Written 2018 (167 decks)

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