This document discusses congenital heart disease (CHD), which affects nearly 1% of births annually in the United States. It outlines the epidemiology, anatomy, types, clinical approach, history taking, physical exams, investigations and general management of CHD. The most common type is ventricular septal defect. While about 95% of babies with non-critical CHD are expected to survive to 18 years, only 69% of those with critical CHD are expected to survive. The document describes several specific types of CHDs in detail, including their typical features, exams, treatments and management approaches.

1. Congenital Heart
Disease
By: Dr Ismah, Pediatric Department
1

2. OUTLINE
• Epidemiology
• Anatomy
• Types
• Clinical approach
- History, physical exams
- Investigation
- General management
2

3. EPIDEMIOLOGY
• CHDs affect nearly 1% of or about 40,000 births
per year in the United States
• The most common type of heart defect is a
ventricular septal defect (VSD)
• About 95% of babies born with a non-critical CHD
are expected to survive to 18 years of age [2012]
• About 69% of babies born with critical CHDs are
expected to survive to 18 years of age [2012]
http://www.cdc.gov
• A study on under five deaths in Malaysia in the
year 2006 showed that 10% of mortality was
directly related to CHD - http://mjpch.com
3

4. ANATOMY
http://www.stanfordchildrens.org
4

5. www.rch.org.au
5

6. TYPES
Acyanotic Cyanotic
• Atrial septal defects
(ASD)
• Ventricular septal
defects (VSD)
• Patent ductus
arteriosus (PDA)
• Tetralogy of Fallot
(TOF)
• Tricuspid atresia
(TA)
• Transposition of the
great vessels
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7. 7

8. Atrial Septal Defect
• Most commonly asymptomatic
• Features:
- Right ventricular heave
- S2 widely split and usually fixed
- Grade I-III/VI systolic murmur at the
upper left sternal border
- Cardiac enlargement on CXR
8
http://www.merckmanuals.com

9. Treatment
Small defects:
• No treatment
Large defects:
• Elective closure at 4-5 years age
9 Paeds Protocol 3rd Ed

10. Ventricular Septal Defect
Clinical findings
• Grade II-IV/VI,
medium- to high-
pitched, harsh
pansystolic murmur
heard best at the lower
left sternal border with
radiation over the entire
precordium
10
http://www.merckmanuals.com

11. Treatment
Small defects: Moderate defects: Large
defects:
No treatment;
high rate of
spontaneous
closure.
• SBE
prophylaxis.
• Yearly follow up
for aortic valve
prolapse,
regurgitation.
• Surgical closure
indicated if
prolapsed aortic
valve.
- Anti-failure therapy if heart
failure.
- Surgical closure if:
• Heart failure not controlled by
medical therapy.
• Persistent cardiomegaly on
chest X-ray.
• Elevated pulmonary arterial
pressure.
• Aortic valve prolapse or
regurgitation.
• One episode of infective
endocarditis.
Early primary
surgical
closure.
• Pulmonary
artery banding
followed by
VSD closure in
multiple VSDs.
11 Paeds Protocol 3rd Ed

12. Patent Ductus Arteriosus
• Pulses are bounding and pulse pressure is
widened
• Characteristically has continuous murmur is
heard best in the upper left sternal border,
machinery murmur
12
http://www.merckmanuals.com

13. Treatment
Small PDA:
• No treatment if there is no murmur
• If murmur present: elective closure as risk
of endarteritis.
Moderate to large PDA:
• Anti-failure therapy if heart failure
• Timing, method of closure (surgical vs
transcatheter) depends on symptom
severity, size of PDA and body weight.
13 Paeds Protocol 3rd Ed

14. Tetralogy of Fallot
14
http://my.clevelandclinic.org

15. Typical features
• Symptoms include cyanosis, dyspnea with
feeding, poor growth, and
• Hypercyanotic "tet" spells (sudden, potentially
lethal episodes of severe cyanosis)
• A harsh systolic murmur at the left upper
sternal border with a single 2nd heart sound
(S2) is common
15
http://www.merckmanuals.com

16. Transposition of great arteries
16
http://mvpresource.com

17. Tricuspid atresia
17 www.riversideonline.com

18. HISTORY
• Antenatal scans (cardiac malformation, fetal
arrhythmias, hydrops).
• Family history of congenital heart disease.
• Maternal illness: diabetes, rubella, teratogenic
medications.
• Perinatal problems: prematurity, meconium
aspiration, perinatal asphyxia.
18 Paeds Protocol 3rd Ed

19. PHYSICAL EXAMINATIONS
• Dysmorphism: Trisomy 21, 18, 13;
Turner syndrome
• Central cyanosis.
• Tachypnoea.
• Weak or unequal pulses.
• Heart murmur.
• Hepatomegaly.
19 Paeds Protocol 3rd Ed

20. INVESTIGATIONS
- CXR
- Hyperoxia test:
• Administer 100% oxygen via headbox at 15
L/min for 15 mins.
• ABG taken from right radial artery.
• Cyanotic heart diseases: pO₂ < 100 mmHg;
rise in pO₂ is < 20 mmHg.
- Echocardiography
20 Paeds Protocol 3rd Ed

21. GENERAL MANAGEMENT
• Correct metabolic acidosis, electrolyte
derangements, hypoglycaemia; prevent
hypothermia.
• Empirical treatment with IV antibiotics.
• Early cardiology consultation.
21 Paeds Protocol 3rd Ed

22. • IV Prostaglandin E infusion if duct-
dependent lesions suspected:
- Starting dose: 10 – 40 ng/kg/min;
maintenance: 2 – 10 ng/kg/min.
- Adverse effects: apnoea, fever,
hypotension.
22

23. • If unresponsive to IV prostaglandin E,
consider:
- Transposition of great arteries, obstructed
total anomalous pulmonary.
- Blocked IV line.
- Non-cardiac diagnosis.
• Arrangement to transfer to regional
cardiac center once stabilized.
23

24. THANK YOU
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