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Year 2 > Inherited Cardiac Conditions > Flashcards

Inherited Cardiac Conditions Flashcards

1
Q

What are cardiomyopathies

A

Group of diseases of the myocardium that effect the mechanical or electrical activity of the heart

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2
Q

What is Hypertrophic cardiomyopathy

A

Inherited condition that causes hypertrophy of the myocardium in the absence of an alternative cause (e.g. hypertension)

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3
Q

How is Hypertrophic Cardiomyopathy caused

A

Mutations in genes coding for sarcomeric proteins

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4
Q

How common is HCM

A

Affects 1 in 500 people

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5
Q

How does HCM effect the heart

A
  1. Hypertrophy that commonly effects the inter ventricular septum
  2. Left ventricular tract outflow obstruction due to hypertrophy of anterior mitral valve
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6
Q

Symptoms of HCM

A
  1. Asymptomatic most cases - usually detected by routine ECG examination
  2. Chest pain
  3. Dyspnoea
  4. Arrhythmia
  5. Syncope
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7
Q

What is Syncope

A

Temporary loss of consciousness caused by a drop in BP

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8
Q

Why does Dyspnoea occur in HCM

A

Impaired relaxation of the heart and LVOT

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9
Q

Clinical features of HCM

A
  1. Double apical pulsation (forceful atrial contraction will cause a fourth heart sound)
  2. Jerky carotid pulse (due to rapid ejection + obstruction to LVOT during systole)
  3. Ejection systolic murmur (due to LVOTin systole)
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10
Q

How is HCM investigated

A
  1. ECG abnormalities (check ST segment)
  2. Echocardiography (diagnostic)
  3. CMR
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11
Q

How is HCM treated

A

Beta-Blockers

Disopyramide tor educe LVOT

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12
Q

What is Dilated Cardiomyopathy

A

Dilatation of the ventricular heart chambers

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13
Q

How is DCM inherited

A

Autosomal dominant

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14
Q

How is DCM caused

A

Cytoskeletal gene mutations

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15
Q

How does DCM usually present

A

Heart failure symptoms

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16
Q

How is DCM diagnosed

A
  1. Echocardiogram (reveals dilatation of left or right ventricles)
17
Q

How is arrythmogenic cardiomyopathy caused

A

Mutations in desmosome genes

18
Q

What is Arrythmogenic cardiomyopathy

A

Right ventricle - fatty replacement of myocytes leading to dilatation

19
Q

Symptoms of ACM

A

Sudden death in early stages

Ventricular arythmies

20
Q

Clinical feature of ACM

A 
1. Asymptomatic in most patients
ARRYTHMIAS
2. Syncope
3. Sudden death
4. Right heart failure (common later stages)
21
Q

How is ACM diagnosed

A
  1. ECG shows inverted t-waves in precordial chest leads

2. CMR (diagnosis) - assess the RV activity and fatty tissue replacement

22
Q

How are all Cardiomyopathies treated

A

Beta-blocker

23
Q

How are channelopathies caused

A

Ion channel protein gene mutations (K, Na, Ca)

24
Q

How does channelopathy effect heart structure

A

No effect

25
Q

Symptom of channelopathy

A

Syncope

26
Q

How do channelopathies effect ECGs

A

Long QT
Short QT
Brugada
CPVT

27
Q

When treating people with channelopathies, why do we have to be aware of QT prolonging drugs

A

Can kill people with QT syndromes

28
Q

What is the most common way we can tell a person has cardiomyopathy or channelopathy

A

Sudden death in young people

29
Q

Who does SADS (sudden arrhythmia Death Syndrome) tend to effect

A

Cot death - babies

caused by inherited cardiac conditions

30
Q

How is familial hyper cholesterolaemia caused

A

Mutations in genes that regulate cholesterol metabolism

31
Q

What is Brugada Syndrome

A

Ventricular fibrillation in people who have no evidence of causative structural cardiac disease

32
Q

Can aortic aneurysm and dissection be inherited

A

Inherited

33
Q

What is coarctation of the aorta

A

Narrowing of the aorta at insertion of ductus arteriosus - hypertension as renal perfusion decreases

34
Q

Signs of coarctation

A
  1. Asymptomatic early stages
  2. Headaches (hypertension)
  3. Nose bleeds (hypertension)
  4. Cold legs (decreased blood flow)
35
Q

What is an aortic aneurysm

A

Dilation of aorta to greater than 1.5 times its normal size - abdominal aorta

36
Q

Symptoms of aortic aneurysm

A

None - occasional back pain

37
Q

What is an aortic dissection

A

Innermost layer of aorta injury allows blood to flow between layers of aortic wall, forcing layers apart

38
Q

Name three inheritable aortovascular syndrome

A

Marfan
Loeys-Dietz
EDS

39
Q

Are ICCS dominant or recessive

A

Dominant

Year 2 (155 decks)

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