1.
Congenital Heart Disease
(CHD)
Lecture for C-I students
1

2.
Congenital Heart Disease (CHD)
Epidemiology of CHD
Incidence - 8/1000 live births
- 3-4/100 still born
- 2/100 premature infants excluding PDA
-10-25/100 abortuses
• Most congenital defects are well tolerated during fetal life.
Etiology - Unknown in most cases
- Genetic factors - single gene defect
- Chromosomal abnormality.
- Environmental factors
- Gender differences in type of CHD
2

3.
CHD…
Relative Frequency of Congenital Heart Lesions
Lesions % of all Lesions
- Ventricular septal defect 25-30
- A trial septal defect (Secundum) 6-8
- Patent ductus arteriosus 6-8
- Coarctation of aorta 5-7
- Tetralogy of Fallot 5-7
- Pulomnary Valve Sterosis 5-7
- Aortic Valve Stenosis 4-7
- d-Transposition of great arteries 3-5
- Hypoplastic left ventricle 1-3
3

4.
CHD…
Relative Frequency …
Lesions % of all Lesions
- Hypoplastic right ventricle 1-3
- Truncus arteriosus 1-2
- Total anomalous PVR 1-2
- Tricuspid atresia 1-2
- Single ventricle 1-2
- Double-outlet right ventricle 1-2
- Others 5-10
4

5.
CHD …
Clues for Evaluation of an Infant with suspected CHD
1. On History and Physical Examination
color)
• Acyanotic
• Cyanotic
2. Chest roentgenogram
• Normal
• Increased/Plethora pulmonary blood flow
• Decreased/Oligemia
5

6.
CHD …
3.Electrocardiogram
- Right
- Left hypertrophy
- Biventricular
Final diagnosis - Precordial examination
- Echocardiography
6

7.
I. Acyanotic Congenital Heart Diseases
1. Left to Right Shunt Lesions
1.1 Atrial Septal Defect
 Defect occur in any portion of the atrium
- Ostium secundum (at fossa ovalis)
- Ostium primum (ECD) (lower atrial septum)
- Sinus venosus (upper atrial septum)
Pathophysiology
 Left to right shunt
- Transatrial in OS & SV
- Transatrial & transventricular in OP
7

8.
Acyanotic CHD…
Clinical Manifestations
 Most are asymptomatic
 Right ventricular lift
 Wide & fixed split of 2nd heart sound
 Systolic ejection murmur
 Mid-diastolic murmur at tricuspid area
 Holosystolic murmur at mitral area in OP
(ECD)
8

9.
Acyanotic CHD…
Diagnosis
 Clinical
 CXR - Right. V & A enlargement
- Large pulm. artery
- ↑ed pulm. vascularity
 ECG - volume overload,
- right axis deviation
- minor right ventricular conduction delay
 Echocardiography
 Catheterization
Prognosis - Well tolerated
Complications –
- pulm. Hypertension, Eismenger syndrome
Treatment
 Surgery
- For all symptomatic ASD
- Asymptomatic patients with shunt ratio > 2:1
9

10.
10

11.
11

12.
12

13.
13

14.
14

15.
15

16.
Acyanotic CHD…
1.2 Ventricular Septal Defect
 The most common cardiac malformation
 Defect occur in any portion of the septum
- Majority membranous
- Muscular – Single or Swiss-cheese defect
Pathophysiology
 Lt to Rt shunt
 Restrictive if defect is small (0.5cm2)
 Non-restrictive - large defect (> 1cm2)
- Right and left vent. Pressure equalized
16

17.
Acyanotic CHD…
Clinical Manifestation
 Small defects with trivial Lt to Rt Shunt
- Most common
- Asymptomatic
- Loud, harsh holosystolic M at LLSB
 Large defects
- Excessive pulmonary blood flow
- Pulmonary hypertension
- Dyspnea, feeding difficulties, poor growth,
perspiration, recurrent plum. infection, heart failure
- Less harsh but more blowing holosystolic murmur
- Accentuated 2nd heart sound
- Mid-diastolic apical M when shunt ratio > 2:1
17

18.
Acyanotic CHD…
Diagnosis
- Clinical
- CXR - Cardiomegaly
- Plethoric lung
- ECG
- Echocardiography
Prognosis
- 30-50% small defects close by 2 yr of age
- Rarely moderate to large defects close
18

19.
Acyanotic CHD…
Complications
- Infective endocarditis
- Recurrent lung infection
- Heart failure
- Pulmonary HTN
- Acquired pulmonary stenosis
-- aortic valve regurgitation
Treatment
- Small defects - reassurance
- Prophylaxis against IE
- Large defects - medical treatment (control of CHF,
promoting normal growth
prevent IE, prevent development
of p. HTN)
- Surgical repair between 6-12m
19

20.
20

21.
21

22.
22

23.
Acyanotic CHD…
1.3 Patent Ductus Arteriosus
 Functional closure soon after birth
 Aortic end of the ductus distal to the
origin of left subclavian artery and the other
end at bifurcation of pulmonary artery.
 Male to female ratio 1:2
Pathology – Deficiency of mucoid endothelial
layer & muscular media in
term infant.
23

24.
Acyanotic CHD…
Pathophysiology
Lt to Rt shunt - size
- ratio of pulm. to systemic resistance
Reversal of shunt
Clinical Manifestation
Asymptomatic in small ductus
Wide pulse pressure
Bounding pulse large
Continuous or machinery
M at 2nd Left ICS
24

25.
Acyanotic CHD…
Diagnosis
- Clinical
- Chest X-ray
- ECG
- Echocardiography
Prognosis
- Small PDA - normal life
- Large PDA - CHF
Complications
- Infective Endocarditis/Endarteritis
- CHF
- Embolization
- Pulmonary HTN
Treatment - Medical
- Surgical closure
25

26.
26

27.
27

28.
Acyanotic CHD…
2. Obstructive Lesions
2.1 Pulmonic Stenosis - 4 types
- Valvular
- Infundibular
- Supra valvular
- Peripheral
Pathophysiology
- Rt outlet obstruction → Pressure work
↓
Rt vent. hyperthropy
28

29.
Acyanotic CHD…
Clinical Manifestation
- Mild to moderate - asymptomatic
- Critical stenosis
- Systolic ejection murmur
- Heart failure in neonates & infants
- Rarely cyanosis
29

30.
Acyanotic CHD…
Diagnosis
- Clinical
- CXR - Rt vent. hypertrophy
- reduced pulm. blood flow
- ECG
- Echocardiography
Prognosis - good in mild to moderate
Complications - CHF in severe Ps
- rarely IE
Treatment - vavular PS - ballon valvoplasty
- surgery
30

31.
31

32.
Acyanotic CHD…
2.2 Aortic Stenosis
- Valvular - the commonest
- Supra valvular
- Subvalvular (subaortic)
32

33.
Acyanotic CHD…
Clinical Manifestation
 Mild stenosis
- Normal pulse & apical impulse
- Systolic ejection M
- Normal to enlarged heart size
 Critical stenosis
- Left ventricular failure
- pulm. edema, cardiomegaly
- Weak peripheral pulses
- Weak systolic M
- Paradoxical split 2nd heart sound
33

34.
Acyanotic CHD…
Diagnosis
- Clinical
- CXR
- ECG
- Echocardiography
- Graded exercise testing
Prognosis is good for mild to moderate
Treatment
- Balloon valvoplasty
- Surgical
34

35.
35

36.
36

37.
37

38.
Acyanotic CHD…
2.3 Coarctation of the Aorta
• Occur at any site from the arch of aorta to iliac
bifurcation
• 98% juxta ductal
Pathogenesis
• In utero arch hypoplasia
Rt heart output passes through the ductus
38

39.
Acyanotic CHD…
Clinical Manifestation
 Hypertension → mechanical obstruction
→ renal
 Differential cyanosis → pink upper extr.
→ cyanosed lower extr.
 Classic signs
- Disparity in pulse & BP
- Radio-femoral delay
- Systolic M at LMSB & inter-scapular area
39

40.
Acyanotic CHD…
Diagnosis
- Clinical
- CXR - cardiomegaly & pulm. congestion
- Notching of ribs
- ECG
- Echocardiography
Prognosis – Untreated cases succumb by 20-40 years
Complications - CVA
- I/E
- Aneurysms
Treatment
- Medical - IV PGE1 in neonatal age
- Surgery
40

41.
41

42.
42

43.
43

44.
44

45.
Acyanotic CHD…
3. Pulmonary Vascular Disease (Eismenger
syndrome)
- Occur in shunt lesions
VSD - mainly
ASD
PDA
- Reversal of shunt due to pulm. HTN
→ Cyanosis
45

46.
Acyanotic CHD…
4. Regurgitant Lessons
- Pulmonary valvular insufficiency
- Congenital mitral valve insufficiency
- Mitral valve prolapse
46

47.
II. Cyanotic Congenital Heart Disease
1. Cyanotic lesions with decreased pulmonary
blood flow
1.1 Tetralogy of Fallot
Consists: 1. Rt ventricular outflow obst.
2. Ventricular septal defect
3. Dextroposition of the aorta
4. Right ventricular hypertrophy
47

48.
Cyanotic CHD…
Pathophysiology
- Outflow obstruction
- Hypertrophy of subpulmonic muslce
- Normal or small pulmonary valve annulus
- Rarely pulmonary atresia
- VSD - Non-restrictive, located just below
aortic valve
- Aortic arch is right side in 20%
- Right ventricular output shunts to the aorta
48

49.
Cyanotic CHD…
Clinical Manifestation
- Rarely pink TOF - in the absence of obstruction
- Cyanosis
- Clubbing
- Squatting position in walking children
- Paroxysmal hypercyanotic attacks
 occur during 1st 2 years
- Systolic ejection M
- Delayed growth & development
- Single 2nd heart sound
49

50.
Cyanotic CHD…
Diagnosis
CXR - Narrow base & uplifted apex
- A boot or wooden shoe
- decreased pulm. vascularity
- Right side aortic arch in 20%
ECG
Echocardiography
Complication
- Cerebral thrombosis - in < 2 years
- Brain abscess
- Infective endocarditis
- Polycythemia
- CHF in pink TOF
50

51.
Cyanotic CHD…
Treatment
Severe outflow obstruction
- Medical Px - PGE1 infusion
- Prevent dehydration
- Partial exchange transfusion
- Oral propranolol for tet spells
- Surgery - Blalock Taussig
- Total correction
51

52.
52

53.
53

54.
54

55.
55

56.
56

57.
57

58.
Cyanotic CHD…
1.2 Pulmonary Atresia
- With VSD - Extreme form of TOF
- Without VSD - No egress of blood from Rt vent.
- Shunt through foramen ovale to Lt atrium
Left ventricle
systemic circulation
Aorta
pulmonic circulation
- Hypoplastic right ventricle (PDA)
58

59.
Cyanotic CHD…
Clinical Manifestation
- Cyanosis at birth
- Respiratory distress
- Single 2nd heart sound
- No murmur
Diagnosis
- CXR
- ECG
- Echocardiography
Treatment - PGE1
- Surgery
59

60.
60

61.
Cyanotic CHD…
1.3 Tricuspid atresia
- No outlet from Right atrium to Left vent.
- Systemic venous return
Rt atrium
Lt atrium
Left ventricule
systemic Pulmonic
(VSD, PDA)
61

62.
Cyanotic CHD…
Clinical Manifestation
- Cyanosis at birth
- Polycythemia
- Easily fatiguability
- Exertional dyspnea
Diagnosis
- EXR -Pulm. Under circulation
- ECG -Lt axis deviation & Lt vent. hypertrophy
- Echocardiography
62

63.
Cyanotic CHD…
Treatment
- PGE1
- Surgery - Aortico - pulmonary Shunt
- Bidirectional Glenn shunt
- Modified Fontan operation
63

64.
64

65.
Cyanotic CHD…
1.4 Ebstein Anomaly of the tricuspid valve
- Down ward displacement of the tricuspid valve
- Right ventricle with two parts
- atrialized
- normal ventricular myocardium
- Abnormal tricuspid valve
- Huge Rt atrium
- Tricuspid regurgitation
- Compromised Rt ventricular function
65

66.
Cyanotic CHD…
Clinical Manifestations
- Easly fatiguability
- Cyanosis
- Dysrhythmia
- Rt to Lt shunt through formen ovale
- Holosystolic M at tricuspid area
- Heart failure
Diagnosis
- CXR - box shaped heart
- ECG - Right BBB
- Superior axis deviation
Treatment
- PGE1
- Surgery
66

67.
67

68.
68

69.
69

70.
Cyanotic CHD…
2.Cyanotic CHD With increased pulmonary blood
flow
2.1 Transposition of GA
a. D -TGA (uncorrected)
- Systemic venous return to Rt atrium Normal
- Pulmonary venous return to Lt atrium
- Aorta arises from Right ventricle
- Pulm. artery arises from Lt vent. Pathology
70

71.
Cyanotic CHD…
*Systemic & Pulmonary Circulations Consists of
two parallel circuits
*Survival is with associated - patent foramen ovale or
- VSD or
- PDA
Clinical Manifestations
- Tachypnea & cyanosis at birth
- Rarely congestive heart failure
71

72.
72

73.
73

74.
Cyanotic CHD…
b. L. TGA (corrected transposition)
 Systemic VR to normally positioned Rt atrium

Through bicuspid (Mitral) valve

Right sided left ventricle

Pulmo. artery  pulm. venous return

Normally positioned Lt atrium

Through tricuspid valve

Left sided Right ventricle  Aorta
74

75.
Cyanotic CHD…
 Discordant atrio-ventricular relation
(ventricular inversion)
 Transposition of great arteries
Clinical Manifestation
Depends on associated malformation
75

76.
Cyanotic CHD…
Diagnosis
- Clinical
- CXR - Cardiomegaly
- Narrow mediastinum
- Increased pulmonary blood flow
- ECG
- Echocardiography
Treatment
- PGE1 - emergency
- Surgery
76

77.
Cyanotic CHD…
2.2 Truncus arteriosus
- Single arterial trunk for both pulm. &
systemic circ.
- 4 types depending the origin of pulmonary artery
Clinical Manifestation
- Cyanosis
- CHF at 2-3rd m
- Systalic ejection m
Treatment - surgery
77

78.
78

79.
79

80.
Cyanotic CHD…
2.3 Total Anomalous Pulm. Venous return
- Pulm. drainage into systemic vein
80

81.
81

82.
82

83.
Cyanotic CHD…
2.4 Single Ventricle
- No interventricular septum
83

84.
Cyanotic CHD…
2.5 Hypoplastic Left Heart Syndrome
- Under development of Lt Side of the heart
- Atretic aortic or mitral orifice
- Non functional Lt ventricle
- Hypoplasia of ascending aorta
 Right ventricle supplies both pulm. &
systemic circulation
84

85.
85

86.
86

87.
Cyanotic CHD…
2.6 Persistent fetal circulation
87

88.
Cyanotic CHD…
2.6 Dextroposition of the heart
2.7 Dextrocardia
88

89.
THANK YOU!!
89