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Cardiovascular system > Inherited cardiac conditions > Flashcards

Inherited cardiac conditions Flashcards

1
Q

What are the 3 main general types of inherited cardiac conditions?

A

Cardiomyopathies
Channelopathies
Aortopathy

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2
Q

What are the 3 main inherited cardiomyopathies?

A

Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy

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3
Q

What are the 3 main inherited channelopathies?

A

Congenital long QT syndrome
Brugada syndrome
Catecholaminergic polymorphic ventricular tachycardia (CPVT)

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4
Q

What are the 3 main aortopathies?

A

Marfan’s syndrome
Ehlers Danlos syndrome
Luiz Dietz syndrome

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5
Q

What are some common symptoms of inherited cardiac conditions?

A

palpitations
Syncope
breathlessness
Pre-syncope
Chest pain
Sudden death

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6
Q

What is meant by a channelopathy?

A

Mutation of genes coding for ion channel proteins
This leads to problems with conduction in the heart

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7
Q

Which ion channel is most commonly mutated in long QT syndrome?

A

Potassium channels

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8
Q

Which ion channel is most commonly mutated in Brugada syndrome?

A

Sodium channels

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9
Q

Which ion channel is most commonly mutated in catecholaminergic polymorphic ventricular tachycardia?

A

Ryanodine receptors (In Ca2+ induced Ca2+ release)

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10
Q

What is the prevalence of long QT syndrome?

A

1 in 2000

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11
Q

By how much is the QT interval elongated in long QT syndrome?

A

> 440ms in males
460ms in females

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12
Q

How many subtypes of long QT syndrome are there?

A

13

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13
Q

What is an example of an autosomal dominant subtype of long QT syndrome?

A

Isolated long QT syndrome = Romano-Ward syndrome

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14
Q

What is an example of an autosomal recessive subtype of long QT syndrome?

A

Jerrell and Lange-Nielsen syndrome (Associated with deafness)

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15
Q

What are some common symptoms of long QT syndrome?

A

Polymorphic VT (Torsades du pointes)
Lone AF
Heart block
Syncope

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16
Q

What are some common symptoms of arrhythmia in long QT syndrome?

A

Exercise
Sudden auditory stimuli
Sleep
Qt prolonging states due to medication or hypokalaemia

17
Q

What are some T-wave patterns that may be seen on an ECG with a person with long QT syndrome?

A

Wise based, slowly generated T wave
Wide based, double hump T wave
Low amplitude deflection of descending limb of T-wave

18
Q

What are some management strategies for long QT syndrome?

A

ß-Blockers
Avoidance of triggers
K+ infusions (Depending on mutation)

19
Q

How many subtypes of Brugada syndrome are there?

A

12

20
Q

Is Brugada syndrome autosomal recessive or dominant?

A

Dominant

21
Q

What are the risks of Brugada syndrome?

A

Risk of Polymorphic Ventricular Tachycardia or Atrial Fibrillation

22
Q

What are some examples of drugs that may exacerbate ECG changes in Brugada syndrome?

A

Flecainide
Ajmaline
This is because they both block sodium channels, making the imbalance worse

23
Q

What some common triggers of Brugada syndrome?

A

Rest or sleep
Fever
Excessive alcohol or food intake

24
Q

What are some management strategies for Brugada syndrome?

A

Avoidance of drugs that may induce changes to ECG
Avoidance of excessive alcohol
Treatment of fever with antipyretics

25
Q

What are some drugs to avoid in Brugada syndrome?

A

Anti-arrhythmic drugs
Psychotropics
Analgesics
Anaesthetics

26
Q

What occurs in Hypertrophic Obstructive Cardiomyopathy (HOCM)?

A

A mutation, mostly in sarcomeric genes, causes hypertrophy of the ventricular wall, which decreases the volume of the heart chambers

27
Q

What are some common presentations of hypertrophic obstructive cardiomyopathy?

A

Sudden death
Heart failure
Angina
Atrial fibrillation
Can be asymptomatic

28
Q

What causes dilated cardiomyopathy?

A

Mutation of sarcomeric, desmosomal and latin genes cause ‘floppy’ heart walls that do not properly contract

29
Q

Which gene mutations in dilated cardiomyopathy are usually malignant?

A

Titin and Lamin C mutations

30
Q

What is the management strategy for dilated cardiomyopathy?

A

A - ACEi or ARB
B - Bisoprolol
A - Aldosterone antagonist
L - Loop diuretic

31
Q

What occurs in arrhythmogenic right ventricular cardiomyopathy?

A

Fibro-fatty replacement of cardiomyocytes in the right ventricle (Left ventricular involvement in <50% of cases)

32
Q

Which gene mutations are autosomal dominant or recessive in arrhythmogenic right ventricular cardiomyopathy?

A

Autosomal dominant mutations in desmosomal genes
Autosomal recessive mutations in non-desmosomal genes

Cardiovascular system (45 decks)

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