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Cardiovascular Week 6 2016/17 > 6: Inherited cardiac conditions > Flashcards

6: Inherited cardiac conditions Flashcards

1
Q

What are the two main types of inherited heart disease?

A

Channelopathies (leading to arrythmia)

Cardiomyopathies

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2
Q

What is a common sign of inherited heart disease?

A

Arrythmias

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3
Q

People with inherited heart disease often present with what type of arrythmia?

A

Sinus bradycardia

You may fit a pacemaker and never know that the disease has a genetic basis

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4
Q

Name three common channelopathies.

A

Long QT syndrome

Brugada syndrome

Catecholaminergic polymorphic ventricular tachycardia (CPVT)

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5
Q

Name three common cardiomyopathies.

A

Hypertrophic cardiomyopathy

Arrythmogenic right ventricular cardiomyopathy (ARVC)

Dilated cardiomyopathy

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6
Q

Inherited cardiac conditions tend to be diagnosed using which kind of test?

A

Genetic testing

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7
Q

Inherited cardiac condition patients need to be advised on how they can manage their ___ factors.

A

risk

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8
Q

If a patient is diagnosed with inherited cardiac disease, who else may be screened?

A

The patient’s family

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9
Q

How does channelopathy cause arrythmia?

A

Movement of ions into/out of cardiac cells becomes dysfunctional, depolarisation doesn’t occur properly and therefore contraction of muscle doesn’t either

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10
Q

The most common mutation causing channelopathy is that of ___ channels, which causes ___ __ ___.

A

K+ channels

Long QT syndrome

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11
Q

Mutations in which channel’s genes causes Brugada syndrome?

A

Na+ channels

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12
Q

Mutations in Ryanodine channel genes causes which type of arrythmia?

A

Cathecolaminergic polymorphic ventricular tachycardia (CPVT)

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13
Q

What causes Long QT syndrome?

A

Mutations in K+ channels

Reduction in repolarising currents

Resulting in longer action potentials

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14
Q

What arrythmia can occur as a result of QT interval prolongation?

A

Ventricular tachycardia (to compensate for reduced heart rate)

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15
Q

What symptom can occur in people with long QT syndrome?

A

Syncope

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16
Q

What channelopathy do you (probably) have if your QT interval is >= 0.48s?

A

Long QT syndrome

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17
Q

How long must your QT interval be to be diagnosed with long QT syndrome?

A

>= 0.48s

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18
Q

There are ___ variations of long QT syndrome with different ___ of lethal cardiac events.

A

three

triggers

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19
Q

In patients with long QT syndrome - you need to avoid specific ___ - why?

A

drugs

Some drugs further prolong the QT interval, which puts patients at risk of arrythmia and sudden death

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20
Q

Patients with long QT syndrome should avoid ___ which may cause arrythmia.

A

triggers

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21
Q

What is an example of a trigger for LQTS1?

A

Breath holding → avoid strenuous swimming

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22
Q

What is an example of a trigger for LQTS2?

A

Loud noises (alarm clocks, guns, gaffs)

23
Q

What arrythmia is common in Brugada syndrome?

A

Atrial fibrillation

24
Q

What channels are affected in Brugada syndrome?

A

Sodium channels

Calcium channels

(slows upstroke and prolongs action potential)

25
Q

What are some ECG indicators of Brugada syndrome?

A

ST elevation in chest leads

26
Q

Which drugs may you need to give a patient to bring out ECG changes characteristic of Brugada syndrome?

A

Sodium channel blockers

e.g Flecainide, ?ajmaline

27
Q

What drug treatments should be avoided in patients with Brugada syndrome?

A

Anti-arrhythmic drugs (e.g Na+ channel blockers - flecainide, ajmaline)

Psychotropic drugs

Analgesics

Anaesthetics

28
Q

Which inherited cardiac disease is induced by adrenergics?

A

Catecholaminergic polymorphic VENTRICULAR TACHYCARDIA

29
Q

What is CPVT triggered by?

A

Emotional stress

Physical activity

(anything that releases catecholamines like adrenaline)

30
Q

What kind of VT will be seen in the ECG of someone with CPVT?

A

Bi-directional ventricular tachycardia

31
Q

Why are CPVT patients advised to avoid strenuous exercise and stress?

A

Releases adrenaline, which is a trigger for the VT

32
Q

Use of ___ - which give out adrenaline-producing, stressful shocks, should be considered carefully in those with CPVT.

A

Pacemakers

33
Q

Which sodium channel blocker improves the outcome of those with CPVT?

A

Flecainide

(remember that it’s strongly contraindicated in Brugada syndrome)

34
Q

Which class of drugs is used to calm VT in CPVT?

A

Beta blockers (beta adrenoceptor antagonists)

35
Q

Which kind of cardiomyopathy is most common?

A

Hypertrophic cardiomyopathy

36
Q

Name three types of inherited cardiomyopathy.

A

Hypertrophic cardiomyopathy

Dilated cardiomyopathy

and

Cardiomyopathy which selectively targets the right ventricle:

Arrhytmogenic right ventricular cardiomyopathy (ARVC)

37
Q

Hypertrophic cardiomyopathy ___ the myocardium and causes stiffening, reducing the ___ ___.

A

thickens

cardiac output

38
Q

What arrythmia can occur as a result of hypertrophic cardiomyopathy?

A

Blood doesn’t pump so back pressure causes atrial hypertrophy / dilatation

⇒ atrial fibrillation

39
Q

If a patient’s presentation, ECG etc. suggest cardiac hypertrophy but you can’t pin down a specific disease, what should be tested?

A

Genetics

40
Q

When should the use of nitrates be avoided?

A

Significant outflow tract obstruction

because it reduces coronary filling in patients already prone to ischaemia, syncope

41
Q

What does ICD stand for?

A

Implantible cardioverter defibrillator

42
Q

What is an ICD used for?

A

Restores normal sinus rhythm by shocking an arrythmia

43
Q

What is dilated cardiomyopathy?

A

Dilatation of the left ventricle, reducing cardiac output due to poorer pumping capability

44
Q

What is arrhythmogenic right ventricular cardiomyopathy?

A

Fibro-fatty replacement of cardiac myocytes in the RIGHT VENTRICLE, which causes arrythmia (e.g VT)

45
Q

Why should patients with ARVC avoid competitive sports?

A

Associated with increased right ventricle pressure which worsens the conditions

46
Q

What drugs and mechanical interventions are recommended in patients with ARVC?

A

Beta blockers or amiodarine

ICD implantation or catheter ablation of affected nerves

47
Q

What may the only presentation be for someone with an undiagnosed, inherited cardiac condition?

A

Sudden death

you want to avoid this

48
Q

ICDs have a variety of possible ___.

A

complications

49
Q

What are some complications associated with ICDs?

A

Endocarditis

Perforation

Thromboembolic events

50
Q

What kind of screening involves investigating people more at risk of ICD, e.g family, rather than random individuals?

A

Cascade screening

51
Q

On an ECG, what is torsades de pointes?

Which type of arrythmia is it?

What inherited cardiac condition is it an indicator of?

What arrythmia can it degenerate into?

A

Irregular QRS complexes which seem to twist around the ECG baseline

Polymorphic VT

Long QT syndrome

Ventricular tachycardia

52
Q

Which arrythmia can be triggered in people with Brugada syndrome?

A

Ventricular fibrillation

53
Q

What can trigger ventricular fibrillation in people with Brugada syndrome?

A

Rest / sleep

54
Q

What kind of polymorphic arrythmia is seen in catecholaminergenic polymorphic ventricular tachycardia (CPVT)?

A

Bi-directional ventricular tachycardia

Cardiovascular Week 6 2016/17 (6 decks)

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