Congenital Cardiac Defects

Question 1

What is a huge difference between adult and paediatric cardiac failure?

Answer 1

Cardiac failure in children does not have the sign of oedema

Question 2

At what age can ankle oedema occur in cardiac failure in a child?

Answer 2

3 years onwards

Question 3

What are the signs and symptoms of cardiac failure in a child?

Answer 3

• SOB
• Poor feeding
• Tachycardia
• Hepatomegaly (only in RHS heart failure)
• Poor pulses
• Acidosis
• Sweating

Question 4

What is a VSD?

Answer 4

Ventricular Septal Defect

Question 5

What are the 3 heart problem categories in children?

Answer 5

1. Congenital (born with it)
2. Acquired
3. Inherited

Question 6

What is the incidence of congenital heart disease per 1000 live births?

Answer 6

8 per 1000 live births (0.8%)

Question 7

What percentage of babies with CHD are diagnosed within 2/52 of age?

Answer 7

30-40%

Question 8

What percentage of babies with CHD are diagnosed within 4/52 of age?

Answer 8

60%

Question 9

What are the acyanotic causes of CHD?

Answer 9

• Septal defects (VSD or ASD)
• Aortic stenosis
• Pulmonary stenosis
• Coarctation of the aorta
• PDA
• Mitral stenosis
• Tricuspid stenosis

Question 10

What sort of murmur is produced by a VSD?

Answer 10

Pansystolic murmur (holosystolic)

Question 11

Describe the murmur and pulses in a patient with PDA.

Answer 11

Continuous murmur with bounding pulses

Question 12

What would we find on examination of a baby/child with coarctation of the aorta?

Answer 12

• Weak/absent femoral pulses
• Systemic hypertension in the upper limbs
• Aorta can be interrupted in severe forms - blue, mottled, pulseless, cold legs

Question 13

What is coarctation of the aorta?

Answer 13

A narrowing in the descending aorta, this causes weakened or interrupted blood flow to the lower extremities

Question 14

What is a common complication of coarctation of the aorta?

Answer 14

Necrotising enterocolitis due to the reduced blood supply to the gut

Question 15

What percentage of CHD patients have cyanotic CHD?

Answer 15

30%

Question 16

Name the most common 3 causes of cyanotic CHD.

Answer 16

• Fallot’s tetralogy
• Transposition of Great Arteries (TGA)
• Complete Atrio-Ventricular Septal Defects (CAVSD)

Question 17

What is transposition of the great arteries (TGA)?

Answer 17

This is where the pulmonary artery and the aorta fail to switch to the correct ventricle on birth (e.g. the pulmonary arteries come from the left ventricle and supply the lungs with blood and the aorta comes from the right ventricle and supplies the rest of the body with blood). This means blood will not be oxygenated in the lungs, hence the cyanotic presentation.

Question 18

What is Fallot’s Tetralogy (TOF) - It’s 4 components?

Answer 18

1. Large VSD - L to R shunt
2. Overriding aorta - enlarged aortic valve and seems to rise from the left and right ventricles
3. Pulmonary artery stenosis - narrowing
4. Right ventricular hypertrophy

Question 19

What is the murmur heard in TOF?

Answer 19

Loud ejection systolic murmur

Question 20

What are children who have TOF prone to?

Answer 20

Hypercyanotic episodes
This means they have a constant baseline of cyanosis, however this can worsen at random times where the become profoundly cyanosed and terribly blue.

Question 21

What heart defect can commonly occur in trisomy 21?

Answer 21

AVSD

Question 22

What do we usually see on an ECG of someone with an AVSD?

Answer 22

Left-axis deviation

Question 23

What percentage of children with Trisomy 21 (Down’s) have CHD?

Answer 23

40%

Question 24

What percentage of children with trisomy 13 (Patau’s) have CHD?

Answer 24

80%

Question 25

What percentage of children with trisomy 18 (Edward's) have CHD?

Answer 25

80-100%

Question 26

How is Di-George syndrome inherited?

Answer 26

Autosomal-dominant

Question 27

What are the features of an autosomal dominant inheritance?

Answer 27

- Males and females affected equally - Transmitted by both sexes - Incomplete penetrance - might have the gene but no symptoms - Variable expression - affects individuals differently - New mutations - Risk to offspring is 50%

Question 28

List 3 examples of autosomal dominant inheritance conditions.

Answer 28

1. Neurofibromatosis 2. Marfan's syndrome 3. Familial adenomatous polyposis

Question 29

What is tested for on the neonatal heel prick test?

Answer 29

1. MCAD 2. HCU 3. Sickle cell 4. Isovalaric acidaemia 5. CF 6. Hypothyroidism 7. Phenylketonuria (PKU)

Question 30

What are common causes of acquired heart disease in children (even though acquired heart disease is uncommon)?

Answer 30

1. Viral pericarditis 2. Viral myocarditis (commonly caused by Coxsackie B) 3. Kawasaki disease

Question 31

What are the signs and symptoms a child with acquired heart disease might present with?

Answer 31

- Fever - Lethargic - Heart failure symptoms (hepatomegaly, tachycardia, tachypnoea) - Unwell appearance

Question 32

What are the common signs/symptoms of Kawasaki disease?

Answer 32

- Swinging fevers - unresponsive to paracetamol - Lymphadenopathy - Red eyes - no pus - Rash (macular) - Red, swollen tongue - Swollen feet and hands with peeling skin from the digits - Platelet rise in week 2 (up to a million)

Question 33

What is a severe complication of Kawasaki disease? How do we prophylactically treat this?

Answer 33

- Coronary artery aneurysm | This can be avoided by early administration of aspirin and IV gammaglobulin

Question 34

Why are we more commonly missing CHD antenatally?

Answer 34

Due to maternal obesity which makes the USS scanning more difficult and harder to get a clear picture therefore CHD is being missed

Question 35

Why are we missing diagnosis of CHD in neonatal patients?

Answer 35

Mum and baby are being discharged earlier than they used to, as they used to be kept for monitoring until day 3/4 on the postnatal ward where signs were becoming clearer.

Question 36

What oxygen saturations can children with TGA tolerate?

Answer 36

60-70%