Congenital/Inherited Heart Disease

Question 1

In the foetal heart what connects the umbilical vein (coming from the placenta) to the IVC?

Answer 1

Ductus venosus

Question 2

What is the importance of the ductus venosus?

Answer 2

Allows most of the blood from the placenta to bypass the liver and go to the heart

Question 3

In the foetal heart what connects the right atrium to the left atrium?

Answer 3

Foramen ovale

Question 4

What is the importance of the foremen ovale?

Answer 4

Allows oxygenated blood in the RA (from IVC from umbilical vein from placenta) to enter the LA i.e. Oxygenated blood is not sent to the lungs

Question 5

Once oxygenated blood has gone through the foremen ovale where does it go?

Answer 5

Enters the LV and is pumped up the aorta to the body and importantly the brain

Question 6

In the foetal circulation what connects the pulmonary artery to the aorta?

Answer 6

Ductus Arteriosus

Question 7

What is the importance of the ductus arteriosus?

Answer 7

Allows deoxygenated blood from the pulmonary artery to enter the descending aorta to go the placenta to be oxygenated

Question 8

Do they lungs take part in gas exchange in the foetus?

Answer 8

No

Hence why pulmonary system is cleverly bypassed in foetal circulation

Question 9

Hat results in the closure of the foremen ovale?

Answer 9

Baby’s first breath after delivery (usually)

Question 10

How does the baby’s first breath close the foremen ovale?

Answer 10

Pulmonary resistance falls (due to increased oxygen)
Causing more blood flow from RA to RV and PA
Decrease in RA plus an increase in LA pressure causes closure of the foreman ovale

Question 11

Hats the remnant of the umbilical vein in adults?

Answer 11

Ligamentum teres

Question 12

What is the remnant of the ductus venosus in adults?

Answer 12

Ligamentum venosus

Question 13

What acquired heart disease complications can patients be genetically predisposed to?

Answer 13

VT/VF in heart failure/ischaemia
AF in structural heart disease
Drug acquired long QT syndrome
SCD in left ventricular hypertrophy

Question 14

What are the classifications of cardiomyopathy?

Answer 14

Hypertrophic cardiomyopathy (HCM)
Dilated (idiopathic) cardiomyopathy (DCM)
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
Restrictive Cardiomyopathy (RCM)

Question 15

Symptoms of cardiomyopathy

Answer 15

Heart failure (dyspnoea, fatigue, oedema, orthopnoea)

Arrthymias (palpitations, dizziness, syncope)

Outflow tract obstruction (syncope, angina)

Question 16

Signs of cardiomyopathy

Answer 16

HCM

• jerky pulse
• forceful apex
• 4th heart sound
• mid systole murmur (valsalva manoeuvre)

RCM

• rapid descent of JVP
• loud 3rd & 4th heart sound

Question 17

Investigations for cardiomyopathy

Answer 17

TFT, iron studies 
ECG
Echo 
Cardiac MRI
Genetic testing

Question 18

Effects of hypertrophic cardiomyopathy on the heart?

Answer 18

LVOT obstruction
Reduced ejection fraction
Mitral regurgitation
Rhythm distances

Question 19

What is the pathology of ARVC?

Answer 19

Heart muscle is replaced by fibrous and fatty tissue

Usually right ventricle

Question 20

Clinical presentation of ARVC

Answer 20

Ventricular arrthymias of RV origin
ECG changes
Dysfunction of the RV

Question 21

ECG characteristics of ARVC

Answer 21

T-wave inversion beyond lead 1

Increased QRS duration

Question 22

What’s is restrictive cardiomyopathy?

Answer 22

Walls of ventricles become stiff but not necessarily thickened
Resist normal filling with blood

Question 23

What is long QT syndrome?

Answer 23

Congenital disorder that leads to unexplained syncope, seizures and sudden death

Question 24

What is brugada syndrome?

Answer 24

Cardiac sodium channel mutation

Question 25

What cardiac problems does brugada syndrome cause?

Answer 25

VT
VF 
AF 
ST elevation 
RBBB V1-3

Question 26

How is HCM thought to be passed on genetically?

Answer 26

Autosomal dominant

Question 27

What is the mutation in HCM?

Answer 27

Mutation in sarcomeric genes