Congenital heart defects & inherited cardiac diseases

Question 1

What is hypertrophic cardiomyopathy?

Answer 1

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

Question 2

How much a patient with hypertrophic cardiomyopathy present?

Answer 2

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

Question 3

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

Answer 3

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)

Question 4

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

Answer 4

Dominant

Question 5

What is the genetic mutation that causes hypertrophic cardiomyopathy?

Answer 5

Mutation in sarcomeric genes resulting in mutated cardiac muscle proteins

Question 6

Is the hypertrophy symmetrical or asymmetrical?

Answer 6

Asymmetrical - usually involving interventricular septum

Question 7

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

Answer 7

Left ventricle

Question 8

When does hypertrophic cardiomyopathy commonly present itself?

Answer 8

Post-puberty in early adulthood

Question 9

What are some of the serious complications of hypertrophic cardiomyopathy?

Answer 9

Atrial fibrillation
Ventricular arrhythmias
Sudden death

Question 10

What is the first line treatment for hypertrophic cardiomyopathy?

Answer 10

Beta-blockers

Question 11

What is the second line treatment for hypertrophic cardiomyopathy?

Answer 11

Calcium channel antagonists i.e. verapamil

Question 12

What is arrhythmogenic right ventricular cardiomyopathy (ARVC)?

Answer 12

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

Question 13

What is the most important/common complication of ARVC?

Answer 13

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

Question 14

What genetic mutation leads to ARVC?

Answer 14

Genetic defect of genes encoding for desmosomal proteins

Inherited in autosomal dominant pattern

Question 15

What are some of the symptoms of ARVC?

Answer 15

Syncope

Palpitations

Question 16

How might ARVC present on an ECG?

Answer 16

T wave inversion in leads V1-V3

Right bundle branch block epsilon wave after QRS

Question 17

What is the first line treatment for ARVC?

Answer 17

Sotalol

Question 18

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

Answer 18

Amiodarone

Metoprolol

Question 19

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

Answer 19

Anticoagulants i.e. warfarin

Question 20

What is dilated cardiomyopathy?

Answer 20

Enlarged & weakened heart wall with no thickening of the myocardium

Question 21

What is the most important complication of dilated cardiomyopathy?

Answer 21

Heart failure

Question 22

What symptoms might dilated cardiomyopathy present with?

Answer 22

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

Question 23

What is the treatment for dilated cardiomyopathy?

Answer 23

ACEI
Diuretics
Digoxin
Anticoagulants

Question 24

What is the most common atrial septal defect?

Answer 24

Patent foramen ovale

Question 25

Which is the most common form of congenital heart defect?

Answer 25

Ventricular septal defect - accounts for 25% of defects

Question 26

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

Answer 26

Cardiac failure in 3rd or 4th decade of life | Increased blood flow in pulmonary circulation

Question 27

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

Answer 27

Diastolic rumbling murmur | Increased blood flow across tricuspid valve

Question 28

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

Answer 28

Pulmonary hypertension | Right ventricular hypertrophy

Question 29

Which murmur may be heart in ventricular septal defect?

Answer 29

Pansystolic murmur | May have associated thrill

Question 30

What complications may arise from a ventricular septal defect?

Answer 30

Infective endocarditis | Cardiac failure

Question 31

Give an example of a cyanotic congenital heart defect.

Answer 31

Tetralogy of fallot

Question 32

What is a patent ductus arteriosus?

Answer 32

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

Question 33

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

Answer 33

From aorta to pulmonary artery

Question 34

What murmur may be heard with a patent ductus arteriosus?

Answer 34

A constant machinery-like murmur

Question 35

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

Answer 35

Second heart sound

Question 36

What is coarctation of the aorta?

Answer 36

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

Question 37

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

Answer 37

Bicuspid valve

Question 38

Which clinical sign is indicative of coarctation of the aorta?

Answer 38

Upper limb hypertension & weak femoral pulses

Question 39

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

Answer 39

Congestive heart failure Intracerebral haemorrhage Bacterial endocarditis Rupture of dissecting aneurysm

Question 40

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

Answer 40

Collateral arteries

Question 41

What are the four components of the tetralogy of fallot?

Answer 41

Overriding aorta Ventricular septal defect Pulmonary valve stenosis Right ventricular hypertrophy