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