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Y4 Cardiology > Inherited cardiac conditions > Flashcards

Inherited cardiac conditions Flashcards

1
Q

What are the 3 main inherited heart muscle abnormalities ?

A

Cardiomyopathies:

  1. Hypertrophic cardiomyopathy
  2. Dilated cardiomyopathy
  3. Arrhythmogenic Right Ventricular cardiomyopathy (ARVC)
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2
Q

What are the 3 main inherited heart rhythm abnormalities ?

A

Channelopathies:

  1. Congenital Long QT syndrome
  2. Brugada Syndrome
  3. Catecholaminergic Polymorphic Ventricular tachycardia (CPVT)
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3
Q

What is long QT syndrome and why is it important to recognise ?

A
  • It is an inherited condition associated with delayed repolarization of the ventricles.
  • It is important to recognise as it may lead to ventricular tachycardia/torsade de pointes and can therefore cause collapse/sudden death.
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4
Q

On ECG what is defined as a prolonged QT interval ?

A

QTc interval prolongation:

  • >440 ms in males
  • >450 ms in females
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5
Q

What is the main mutation associated with long QT syndrome ?

A

KCNQ1

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6
Q

What are the 2 congenital causes of long QT syndrome and how do you differentiate between the two ?

A
  1. Autosomal dominant - Romano-Ward syndrome (no deafness)
  2. Autosomal recessive - Jervell-Lange-Nielsen syndrome (includes deafness and is due to an abnormal potassium channel)
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7
Q

What is the main presenting complaint of long QT sydrome ?

A

Syncope, SCD in children and young adults

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8
Q

What are the potential triggers of torsades de pointes & syncope in patients with long QT syndrome ?

A
  • Exercise
  • Sudden auditory stimuli
  • Sleep
  • QT prolonging states - Medication, hypokalaemia
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9
Q

What drugs can cause or worsen long QT syndrome ?

A
  • Amiodarone, sotalol, class 1a antiarrhythmic drugs
  • Tricyclic antidepressants, SSRI’s (especially citalopram)
  • Methadone
  • Chloroquine
  • Terfenadine
  • Erythromycin
  • Haloperidol
  • Ondanestron
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10
Q

List the other causes of long QT syndrome

A
  • Electrolyte: hypocalcaemia, hypokalaemia, hypomagnesaemia
  • Acute myocardial infarction
  • Myocarditis
  • Hypothermia
  • Subarachnoid haemorrhage
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11
Q

What is the management of long QT syndrome ?

A
  • 1st line = Beta blockers + Avoidance (of QT prolonging drugs triggers e.g. strenuous swimming, Breath holding, Loud sudden noises)
  • Also correction of electrolyte abnormalities, maintenance of serum K at upper limit of normal range.
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12
Q

What is brugada syndrome ?

A

It is an autosomal dominant inherited cardiovascular disease with may present with sudden cardiac death

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13
Q

Who is burgada syndrome most common in ?

A

Asians

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14
Q

What is the main mutation associated with causing brugada syndrome ?

A

SCN5A mutation

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15
Q

What arrhythmias can burgada syndrome result in (& hence SCD)?

A
  • Risk of polymorphic VT, VF
  • AF common
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16
Q

How is brugada syndrome diagnosed ?

A

1st line for diagnosis = ECG (after administration of flecainide or ajmaline)

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17
Q

What are the characteristic ECG changes of brugada syndrome ?

A
  • convex ST segment elevation > 2mm in > 1 of V1-V3 followed by a negative T wave
  • partial RBBB
18
Q

What are the triggers of arrhythmias in people with brugada syndrome ?

A
  • Usually rest or sleep
  • Fever
  • Excessive alcohol, large meals
19
Q

What is the treatment of brugada syndrome ?

A
  • ICD if ventricular arrhythmia
  • Avoidance of drugs that may induce Brugada changes, excessive alcohol and large meals & prompt treatment of fever with anti pyretic medications
20
Q

What drugs should be avoided in patients with brugada syndrome ?

A
  • Anti-arrhythmic drugs (beta blockers may aggravate ECG changes, therefore only under supervision).
  • Psychotropics
  • Analgesics
  • Anaesthetics
21
Q

Define what cardiomyopathy is

A
  • Any disease of the cardiac muscle
  • Often result in changes in the size of the heart chambers and thickness of the heart
22
Q

Describe what hypertrophic obstructive cardiomyopathy (HOCM) is

A

It is an autosomal dominant disorder of muscle tissue caused by defects in the genes encoding contractile proteins.

23
Q

What are the main mutations which cause HOCM?

A

Mutation in sarcomeric genes (2 main ones are MYBPC3 or MYH7)

24
Q

Describe the pathophysiology of HOCM

A

Mutations result in diastolic dysfunction → left ventricle hypertrophy → decreased compliance → decreased CO

25
Q

What are the clinical features suggestive of HOCM?

A

Often asymptomatic, but may have:

  • Exertional dyspnoea
  • Angina
  • Syncope - typically following exercise
  • Sudden death (most commonly due to ventricular arrhythmias), arrhythmias, heart failure
  • Ejection systolic murmur
26
Q

What conditions is HOCM associated with ?

A
  • Friedreich’s ataxia
  • Wolff-Parkinson White
27
Q

What are the ECG changes suggestive of HOCM?

A
  • Left ventricular hypertrophy
  • non-specific ST segment and T-wave abnormalities, progressive T wave inversion may be seen
  • deep Q waves
  • atrial fibrillation may occasionally be seen
28
Q

What is the treatment of HOCM?

A
  • Amiodarone for arrhythmias
  • Beta-blockers or verapamil for symptoms
  • Cardioverter defibrillator if high risk of SCD
29
Q

What is the most common cause of sudden cardiac death in the young?

A

HOCM

30
Q

What is Arrhythmogenic right ventricular cardiomyopathy (ARVC)?

A

It is an autosomal dominant inherited cardiovascular disease which may present with syncope or sudden cardiac death.

31
Q

What is the second most common cause of SCD in the young after HOCM?

A

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

32
Q

What are the main mutations which cause ARVC & its underlying pathophysiology

A
  • Mutations in the genes encoding desmosomes (PKP2, DSG2 & DSP)
  • The right ventricular myocardium is replaced by fatty and fibrofatty tissue
33
Q

What are the clinical features suggestive of AVRC?

A
  • palpitations
  • syncope
  • sudden cardiac death
34
Q

What are the typical ECG changes suggestive of AVRC?

A
  • T wave inversion typically in V1-3
  • A terminal notch in the QRS complex
35
Q

What is the management of AVRC?

A
  • Drugs: sotalol is the most widely used antiarrhythmic
  • Catheter ablation to prevent ventricular tachycardia
  • ICD
36
Q

Define what dilated cardiomyopathy is

A

This is a dilated flabby heart of unknown cause

37
Q

What are the potential causes of dilated cardiomyopathy ?

A
  • Idiopathic: the most common cause
  • myocarditis: e.g. Coxsackie B, HIV, diphtheria, Chagas disease
  • ischaemic heart disease
  • peri or post-partum
  • HTN
  • iatrogenic: e.g. doxorubicin
  • substance abuse: e.g. alcohol, cocaine
  • X-linked disorders e.g. duchennes
38
Q

Describe the pathophysiology of dilated cardiomyopathy ?

A
  • dilated heart leading to predominately systolic dysfunction
  • all 4 chambers are dilated, but the left ventricle more so than right ventricle
39
Q

What are the features suggestive of dilated cardiomyopathy ?

A
  • classic findings of heart failure
  • systolic murmur: stretching of the valves may result in mitral and tricuspid regurgitation
  • S3
  • ‘balloon’ appearance of the heart on the chest x-ray
40
Q

Once a diagnosis is confirmed in an individual of an inherited cardiac condition what is then done ?

A

Cascade screening:

  1. Once a diagnosis is confirmed in an individual, testing is extended to 1st & 2nd degree relatives.
  2. If relatives test positive, their 1st & 2nd degree relatives are tested, and so on.

Y4 Cardiology (27 decks)

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