1. Childhood Cardiac Conditions
Lydia Burland

2. Learning Outcomes By the end of the session you should;
Recognise common heart murmurs present in childhood
Be able to list the risk factors for cardiac disease in childhood
Be able to define innocent murmurs and explain to parents
Be able to answer exam-based questions

3. Case 1
A 5 year old girl attends A+E with a 2 day history of watery eyes, cough and runny nose
She is also pulling at her left ear intermittently and is off her food and drinks
She has no relevant medical history, though there is a family history of epilepsy

4. Case 1 Observations: HR 124, RR 28, Sats 97%, T 37.9 On examination:
Red, watery eyes and coryzal, inflamed left TM
HS I + II + systolic murmur
Chest: good AE with transmitted sounds and mild wheeze bilaterally
Abdo: SNT, no masses or organomegaly
What do you think about the observations?
What else would you want to ask/examine?
It is important to have an awareness of normal paediatric values for observations, she is slightly tachypnoeic and has a low grade pyrexia.
First it is important to ask parents if a murmur has ever been heard before, and whether it has been previously investigated.
Then you’d want to perform a full cardiac examination...

5. Case 1
Murmur loudest at the upper left sternal edge, no radiation, thrills or heaves
Brachial and femoral pulses present, with good volume
No other stigmata of cardiac disease
What are your differential diagnoses?
Do you want any further investigations or F/U?
Viral wheeze, exacerbation of asthma
Likely innocent murmur, other possibilities include pulmonary stenosis or ASD/VSD
As the child is well no further investigations are needed at this time, but it is important to know if the murmur persists once the intercurrent illness has passed.

6. Innocent Murmurs Innocent murmurs are common in childhood They are;
Systolic
Soft (or musical)
Localised with no radiation
Alter with changes in position and respiration
As there is no underlying cardiac abnormality there are no other associated symptoms

7. Innocent Murmurs Flow murmur: Venous hum:
HR and blood flow within the heart increase in response to increased oxygen demand
Turbulent blood flow results in an audible murmur
Loudest at the left sternal edge
Venous hum:
Around 20% of cardiac output flows to the brain, which in turn drains into the internal jugular veins
The flow of blood results in ‘vibration’ of the vessel walls, resulting in an audible ‘hum’
Loudest beneath the clavicle, and obliterated on lying flat

8. Innocent Murmurs
No investigation is needed in a well child with otherwise normal examination/observations
Follow up should be arranged in 6-8 weeks when the child is well to review the murmur
If still present reassure parents
Echo if any doubt regarding murmur/red flags

9. Case 2
A 6 month old attends paediatric outpatients with failure to thrive and recurrent LRTIs
He was born on the 50th centile, and now sits below the 2nd
His intake is adequate for his age and he is otherwise developing normally

10. Case 2 On examination: Bright, good colour and tone, mild tachypnoea
Small, but no evidence of dysmorphism
HS I + II + continuous murmur loudest in the infraclavicular area
Bounding brachial and femoral pulses
Chest: good air entry with no added sounds
Abdo: SNT, 2cm liver edge palpable
What’s the most likely diagnosis?

11. Patent Ductus Arteriosus
In utero the ductus allows diversion of blood away from the lungs (pulmonary artery to aorta)
It usually closes on day 1-2 of life, and disappears by week 3
Risk factors:
Female sex Downs syndrome
Congenital rubella Maternal valproate exposure
Prematurity
The ductus arteriosus is a remnant of the 6th aortic arch. In utero it allows blood to flow directly from the pulmonary artery to the aorta, bypassing the lungs.
It usually closes in the first few days of life in response to reduced pulmonary pressures and oxygenation of the lungs which results in pulmonary bradykinin release, which promotes duct smooth muscle constriction.
PDAs are much more common in premature infants who have immature lungs and higher levels of hypoxia. Other risk factors include;
-female sex
-Down syndrome
-Congenital rubella
-Maternal sodium valproate exposure

12. Patent Ductus Arteriosus
Small PDAs are usually asymptomatic
Large PDAs present with failure to thrive and recurrent LRTIs in childhood
Continuous ‘machinery murmur’ in the infraclavicular area or upper left sternal edge
Associated systolic thrill and bounding pulses
Echo confirms diagnosis and shunt size
You should always consider a patent duct in premature infants with a murmur that are difficult to oxygenate or wean from the ventilator.

13. Patent Ductus Arteriosus
Symptomatic patients:
Preterm: ibuprofen or indometacin
Diuretics for heart failure
Surgical ligation
Asymptomatic patients:
Regular echo review and catheter closure if still patent at 1 year
NSAIDs not effective after the first month of life and always less effective in term babies

14. Case 3
A 2 year old girl is referred to paediatric outpatients with a heart murmur
It was found on routine examination by her GP
She is otherwise well and developing normally
Mum’s only concerns is that she is much shorter than her nursery friends and siblings

15. Case 3 On examination: Is there anything else you want to check?
Short, with low set ears
Pink and well perfused, CRT <2 secs
HS I + II + systolic murmur loudest in L infraclavicular area and radiating into the back
Femoral pulses are present, but weak
Is there anything else you want to check?
What is the most likely diagnosis?
Always check for radio-femoral delay and BP in all four limbs.
Likely diagnosis is coarctation of the aorta and Turner’s syndrome

16. Aortic Coarctation Narrowing of the aortic arch
Usually distal to left subclavian artery, near the ductus arteriosus
Results in proximal hypertension, ventricular hypertrophy and eventually heart failure
Risk factors:
Males Positive family history
Turner’s syndrome
The pathophysiology of coarctation is unclear, though it is thought that it may be due to narrowing of the aortic lumen by ductal tissue, or underdevelopment of the arch in utuero.
It most commonly occurs distal to the left subclavian artery, near the ductus arteriosus.
Due to the narrowing their is proximal hypertension, usually in both upper limbs unless the coarctation is before the left subclavian artery, which over time leads to left ventricular hypertrophy and eventually heart failure.
It can also present during the neonatal period if coarctation is critical, as inadequate oxygenated blood is able to reach tissues past the narrowing. This usually happens in the first few days of life when the ductus arteriosus closes.

17. Aortic Coarctation Investigation includes:
CXR ECG MRI
Echo U+E +/- cardiac catheter
Management depends on presentation:
Critical stenosis in neonates – prostaglandin
Heart failure – diuretics
Hypertension – anti-hypertensives
Definitive management is surgical
CXR may reveal an ‘aortic notch’ at the narrowing with pre/post dilatation
ECG shows evidence of heart strain – initially RVH in neonates, then LVH
Echo demonstrates the coarctation and can estimate pressure gradients, if it isn’t clear an MRI will show the anatomy more clearly and pressure can be measured with cardiac catheterisation
U+E should always be performed if hyptertension is found to check renal function
Surgical management may involve open heart surgery, often for complicated cases or re-coarctation, but more commonly involves balloon angioplasty with or without a stent.

18. Case 4
A 6 week old boy is referred with poor feeding, failure to thrive and increased WOB
Mum did not attend antenatal clinics, but reports no pregnancy problems other than her ‘age’ (42)
He was born by normal vaginal delivery, did not require resuscitation and has been well since
There is no family history of note

19. What are your differential diagnoses?
Case 4
On examination:
Pink and active, mild hypotonia and low set ears
CRT <2 secs, RR 62, sats 95%, pulse normal
HS I + II + pansystolic murmur at lower LSE
Left parasternal heave, no thrills
Chest clear, abdo SNT
What are your differential diagnoses?
AVSD, PDA, VSD, PS
Innocent murmur is unlikely as there is associated tachypnoea and parasternal heave
What underlying condition does he have?
Downs syndrome

20. VSD Most common form of congenital heart disease
One or more defects in the interventricular septum
Most VSDs occur in the perimembranous area
Risk factors;
The trisomies (13/18/21) Turners syndrome (45XO)
Maternal diabetes Fetal alcohol syndrome
A VSD is one or more defects in the interventricular septum.
They occur between 4 and 8 weeks gestation as the single ventricle is split into two.
Many different types of VSD occur, with the most common being within the membranous region of the septum, know as perimembranous VSDs.
Risk factors include;
The trisomies (Pataus syndrome – trisomy 13, Edwards syndrome – trisomy 18, Downs syndrome – trisomy 21)
DiGeorge syndrome
Turners syndrome
Maternal diabetes
Fetal alcohol syndrome

21. VSD Presentation depends on;
Size of VSD
Right/left ventricular pressures
Size of shunt across defect
Small: asymptomatic, murmur on examination (pansystolic, loudest at LSE)
Moderate: SOB on feeding from 5-6 weeks of life, increased WOB and poor weight gain
Large: as above, but may lead to irreversible pulmonary hypertension and cyanosis
Presentation of a VSD depends on the size and direction of the shunt across the defect. This is dependent on the size of the VSD and pressures on both the right and left side of the heart.
Small VSDs are usually asymptomatic, and may be picked up as an incidental finding on examination. The murmur is pansystolic and loudest at the left sternal edge.
Moderate VSDs tend to be asymptomatic at birth, until pulmonary vascular resistance falls around 5-6 weeks of life. At this point babies become breathless on feeding, may be tachypnoeic and show poor weight gain. There may also be recurrent LRTIs.
Large VSDs present in a similar way to moderate VSDs, but left untreated may lead to irreversible pulmonary hypertension, a right-to-left shunt and cyanosis.

22. VSD Diagnosis confirmed on echo
Many small VSDs close spontaneously <2yrs
Management if symptomatic;
Medical: diuretics and high-calorie feeds
Surgical: open-heart surgery or catheter closure
VSD is confirmed by cardiac echo, which can also assess the location and size of shunt.
Management is dependent upon type of VSD and the presence of symptoms – many will close spontaneously by 2 years of age if left untreated.
However if the child is symptomatic, for example respiratory distress, feeding issues and failure to thrive, treatment is neccesary.
Medical treatments include diuretics and other cardiac medications for cardio-respiratory symptoms, and high calorie feeds to promote weight gain.
If weight gain continues to be an issue, or if the VSD is very large surgical closure may be performed either by open heart surgery or cardiac catheterisation (perimembranous mainly).

23. Other Conditions Congenital (acyanotic); Congenital (cyanotic);
ASD
AVSD (Downs syndrome)
Congenital (cyanotic);
Tetralogy of Fallot
Transposition of the Great Arteries
Acquired;
Coronary artery aneuryms (Kawasaki disease)
Carditis/mitral valve disease (rheumatic fever)

24. Key Learning Points
Murmur in an asymptomatic child is most likely innocent
Innocent murmurs do not need investigating, and family should be reassured
Congenital heart disease may present with cyanosis, heart failure, feeding issues and respiratory distress
Echo is the key investigation, and acute management should follow an ABCDE approach

25. Practice Questions

26. MCQs The most common form of congenital heart disease is...
a. Atrial septal defect
b. Atrioventricular septal defect
c. Ventricular septal defect
d. Pulmonary stenosis
Which of the following presents with cyanosis?
a. VSD b. ASD
c. Tetralogy of fallot d. Coarctation of the aorta

27. MCQs
3. Which of the following are risk factors for congenital heart disease?
a. Maternal diabetes in pregnancy
b. Congenital rubella infection
c. Down’s syndrome
d. All of the above
4. Which of the following is associated with coronary artery aneurysm?
a. Rheumatic fever b. Type 1 diabetes mellitus
c. Kawasaki disease d. Downs syndrome

28. EMQs
a. Venous hum b. Flow murmur c. Patent ductus arteriosus d. VSD e. Tetralogy of fallot f. Aortic stenosis 5. A 28 weeker has had several failed attempts at extubation on NNU. On examination he has a continuous murmur in the left infraclavicular area. 6. A 5 year old presents to her GP with an URTI. She is found to have a systolic murmur at the lower LSE. She is pink and well perfused, pulses are normal and there is no other evidence of cardiac disease.

29. EMQs
a. Venous hum b. Flow murmur c. Patent ductus arteriosus d. VSD e. Tetralogy of fallot f. Aortic stenosis 7. A 14 year old presents with repeated collapses on exertion. There is an ejection systolic murmur at the LSE on examination. 8. A 4 year old is noted to frequently ‘squat’ when running around with friends. Her mum thinks she looks ‘blue’ sometimes when she does this.

30. EMQs
a. Downs syndrome b. Turners syndrome c. Rheumatic fever d. Patau syndrome e. Kawasaki disease f. Congenital rubella 9. A 15 year old presents with delayed puberty, short stature and a murmur radiating to her back. 10. A 11 month old is found to have a murmur. On echo he is diagnosed with an AVSD.

31. EMQs
a. Downs syndrome b. Turners syndrome c. Rheumatic fever d. Patau syndrome e. Kawasaki disease f. Congenital rubella 11. A premature infant has evidence of IUGR, microcephaly and a continuous machinery murmur. 12. A 2 year presents with 6 days of fever, red lips, cervical lymphadenopathy and a new murmur.

32. Clinical Image 13. This baby presents with cyanosis.
What does the image show?
How does it improve the cyanosis?
What is the underlying diagnosis?

33. Answers

34. MCQs The most common form of congenital heart disease is...
a. Atrial septal defect
b. Atrioventricular septal defect
c. Ventricular septal defect
d. Pulmonary stenosis
Which of the following presents with cyanosis?
a. VSD b. ASD
c. Tetralogy of fallot d. Coarctation of the aorta

35. MCQs The most common form of congenital heart disease is...
a. Atrial septal defect
b. Atrioventricular septal defect
c. Ventricular septal defect
d. Pulmonary stenosis
Which of the following presents with cyanosis?
a. VSD b. ASD
c. Tetralogy of fallot d. Coarctation of the aorta

36. MCQs
3. Which of the following are risk factors for congenital heart disease?
a. Maternal diabetes in pregnancy
b. Congenital rubella infection
c. Down’s syndrome
d. All of the above
4. Which of the following is associated with coronary artery aneurysm?
a. Rheumatic fever b. Type 1 diabetes mellitus
c. Kawasaki disease d. Downs syndrome

37. MCQs
3. Which of the following are risk factors for congenital heart disease?
a. Maternal diabetes in pregnancy
b. Congenital rubella infection
c. Down’s syndrome
d. All of the above
4. Which of the following is associated with coronary artery aneurysm?
a. Rheumatic fever b. Type 1 diabetes mellitus
c. Kawasaki disease d. Downs syndrome

38. EMQs
a. Venous hum b. Flow murmur c. Patent ductus arteriosus d. VSD e. Tetralogy of fallot f. Aortic stenosis 5. A 28 weeker has had several failed attempts at extubation on NNU. On examination he has a continuous murmur in the left infraclavicular area. 6. A 5 year old presents to her GP with an URTI. She is found to have a systolic murmur at the lower LSE. She is pink and well perfused, pulses are normal and there is no other evidence of cardiac disease.

39. EMQs
a. Venous hum b. Flow murmur c. Patent ductus arteriosus d. VSD e. Tetralogy of fallot f. Aortic stenosis 5. A 28 weeker has had several failed attempts at extubation on NNU. On examination he has a continuous murmur in the left infraclavicular area. 6. A 5 year old presents to her GP with an URTI. She is found to have a systolic murmur at the lower LSE. She is pink and well perfused, pulses are normal and there is no other evidence of cardiac disease.

40. EMQs
a. Venous hum b. Flow murmur c. Patent ductus arteriosus d. VSD e. Tetralogy of fallot f. Aortic stenosis 7. A 14 year old presents with repeated collapses on exertion. There is an ejection systolic murmur at the LSE on examination. 8. A 4 year old is noted to frequently ‘squat’ when running around with friends. Her mum thinks she looks ‘blue’ sometimes when she does this.

41. EMQs
a. Venous hum b. Flow murmur c. Patent ductus arteriosus d. VSD e. Tetralogy of fallot f. Aortic stenosis 7. A 14 year old presents with repeated collapses on exertion. There is an ejection systolic murmur at the LSE on examination. 8. A 4 year old is noted to frequently ‘squat’ when running around with friends. Her mum thinks she looks ‘blue’ sometimes when she does this.

42. EMQs
a. Downs syndrome b. Turners syndrome c. Rheumatic fever d. Patau syndrome e. Kawasaki disease f. Congenital rubella 9. A 15 year old presents with delayed puberty, short stature and a murmur radiating to her back. 10. A 11 month old is found to have a murmur. On echo he is diagnosed with an AVSD.

43. EMQs
a. Downs syndrome b. Turners syndrome c. Rheumatic fever d. Patau syndrome e. Kawasaki disease f. Congenital rubella 9. A 15 year old presents with delayed puberty, short stature and a murmur radiating to her back. 10. A 11 month old is found to have a murmur. On echo he is diagnosed with an AVSD.

44. EMQs
a. Downs syndrome b. Turners syndrome c. Rheumatic fever d. Patau syndrome e. Kawasaki disease f. Congenital rubella 11. A premature infant has evidence of IUGR, microcephaly and a continuous machinery murmur. 12. A 2 year presents with 6 days of fever, red lips, cervical lymphadenopathy and a new murmur.

45. EMQs
a. Downs syndrome b. Turners syndrome c. Rheumatic fever d. Patau syndrome e. Kawasaki disease f. Congenital rubella 11. A premature infant has evidence of IUGR, microcephaly and a continuous machinery murmur. 12. A 2 year presents with 6 days of fever, red lips, cervical lymphadenopathy and a new murmur.

46. Clinical Image 13. This baby presents with cyanosis.
What does the image show? Child being placed in knee-to-chest position
How does it improve the cyanosis? Increases venous return to the heart
What is the underlying diagnosis? Tetralogy of fallot (tet spell)

47. Exam Resources Get Ahead! Specialities
Masterpass SBAs and EMQs in Paediatrics for Medical Students
Masterpass SBAs and EMQs in Obstetrics and Gynaecology for Medical Students
Pastest OSCEs for Medical Students Vol 1/2/3
Macleod’s Clinical OSCEs (available May 15th)

48. Any Questions?