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Cardiology > Congenital heart defects & inherited cardiac diseases > Flashcards

Congenital heart defects & inherited cardiac diseases Flashcards

1
Q

What is hypertrophic cardiomyopathy?

A

An unexplained and often substantial thickening of the myocardium of the ventricular wall

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2
Q

How much a patient with hypertrophic cardiomyopathy present?

A

Asymptomatic
OR
Dyspnoea, chest pain, palpitations, lightheadedness, fatigue, syncope, sudden cardiac death

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3
Q

Why must you establish whether a patient is suffering from hypertrophic cardiomyopathy or congestive heart failure?

A

The symptoms of hypertrophic cardiomyopathy mimic those of congestive heart failure, but treatment with diuretics will worsen symptoms (due to decreased ventricular volume and increased outflow resistance)

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4
Q

Is hypertrophic cardiomyopathy inherited in an autosomal dominant or autosomal recessive pattern?

A

Dominant

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5
Q

What is the genetic mutation that causes hypertrophic cardiomyopathy?

A

Mutation in sarcomeric genes resulting in mutated cardiac muscle proteins

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6
Q

Is the hypertrophy symmetrical or asymmetrical?

A

Asymmetrical - usually involving interventricular septum

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7
Q

Which is the most common heart chamber involved in hypertrophic cardiomyopathy?

A

Left ventricle

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8
Q

When does hypertrophic cardiomyopathy commonly present itself?

A

Post-puberty in early adulthood

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9
Q

What are some of the serious complications of hypertrophic cardiomyopathy?

A

Atrial fibrillation
Ventricular arrhythmias
Sudden death

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10
Q

What is the first line treatment for hypertrophic cardiomyopathy?

A

Beta-blockers

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11
Q

What is the second line treatment for hypertrophic cardiomyopathy?

A

Calcium channel antagonists i.e. verapamil

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12
Q

What is arrhythmogenic right ventricular cardiomyopathy (ARVC)?

A

Progressive loss of right ventricular myocytes with associated fibrosis, inflammation and adipose tissue replacement

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13
Q

What is the most important/common complication of ARVC?

A

Ventricular arrhythmias due to loss of functional RV myocardium by fibrofatty replacement

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14
Q

What genetic mutation leads to ARVC?

A

Genetic defect of genes encoding for desmosomal proteins

Inherited in autosomal dominant pattern

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15
Q

What are some of the symptoms of ARVC?

A

Syncope

Palpitations

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16
Q

How might ARVC present on an ECG?

A

T wave inversion in leads V1-V3

Right bundle branch block epsilon wave after QRS

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17
Q

What is the first line treatment for ARVC?

A

Sotalol

18
Q

What other drugs may be used in the treatment of ARVC?

A

Amiodarone

Metoprolol

19
Q

What other type of drug must be considered when dealing with ARVC? (Consider decreased ejection fraction in RV).

A

Anticoagulants i.e. warfarin

20
Q

What is dilated cardiomyopathy?

A

Enlarged & weakened heart wall with no thickening of the myocardium

21
Q

What is the most important complication of dilated cardiomyopathy?

A

Heart failure

22
Q

What symptoms might dilated cardiomyopathy present with?

A 
Breathlessness
Syncope
Cardiomegaly
Raised JVP
Low pulse pressure
Signs of mitral & tricuspid regurgitation
Tachycardia
23
Q

What is the treatment for dilated cardiomyopathy?

A

ACEI
Diuretics
Digoxin
Anticoagulants

24
Q

What is the most common atrial septal defect?

A

Patent foramen ovale

25
Q

Which is the most common form of congenital heart defect?

A

Ventricular septal defect - accounts for 25% of defects

26
Q

What are some of the complications of an atrial septal defect?

A

Cardiac failure in 3rd or 4th decade of life

Increased blood flow in pulmonary circulation

27
Q

What murmur may be heard in atrial septal defect and why?

A

Diastolic rumbling murmur

Increased blood flow across tricuspid valve

28
Q

What complications in the right heart develop if an atrial septal defect is left open?

A

Pulmonary hypertension

Right ventricular hypertrophy

29
Q

Which murmur may be heart in ventricular septal defect?

A

Pansystolic murmur

May have associated thrill

30
Q

What complications may arise from a ventricular septal defect?

A

Infective endocarditis

Cardiac failure

31
Q

Give an example of a cyanotic congenital heart defect.

A

Tetralogy of fallot

32
Q

What is a patent ductus arteriosus?

A

A vessel connecting the pulmonary artery and aorta in fetal life - this should close within the first few days of life but in some it does not - this is a patent ductus arteriosus

33
Q

In which direction does shunting occur with a patent ductus arteriosus?

A

From aorta to pulmonary artery

34
Q

What murmur may be heard with a patent ductus arteriosus?

A

A constant machinery-like murmur

35
Q

When in the cardiac cycle is the murmur associated with patent ductus arteriosus loudest?

A

Second heart sound

36
Q

What is coarctation of the aorta?

A

A stricture in the aorta, usually just distal to the ductus arteriosus

37
Q

Which valve abnormality is commonly associated with coarctation of the aorta?

A

Bicuspid valve

38
Q

Which clinical sign is indicative of coarctation of the aorta?

A

Upper limb hypertension & weak femoral pulses

39
Q

What complications may cause patients with coarctation of the aorta to die prematurely?

A

Congestive heart failure
Intracerebral haemorrhage
Bacterial endocarditis
Rupture of dissecting aneurysm

40
Q

What may develop in coartation of the aorta to increase blood flow to the lower body?

A

Collateral arteries

41
Q

What are the four components of the tetralogy of fallot?

A

Overriding aorta
Ventricular septal defect
Pulmonary valve stenosis
Right ventricular hypertrophy

Cardiology (15 decks)

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