Congenital Heart Disease

(CHD)

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 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

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 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

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 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

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

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

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 I. Acyanotic Congenital Heart Diseases
1. Left to Right Shunt Lesions
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

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 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)
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 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
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 Acyanotic CHD…
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
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 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

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 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

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

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

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 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

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 Acyanotic CHD…

2.2 Aortic Stenosis

- Valvular - the commonest
- Supra valvular
- Subvalvular (subaortic)

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 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

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

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 Acyanotic CHD…
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

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 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

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 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 PGE1in neonatal age
- Surgery
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 Acyanotic CHD…
3. Pulmonary Vascular Disease (Eismenger
syndrome)
- Occur in shunt lesions
VSD - mainly
ASD
PDA
- Reversal of shunt due to pulm. HTN
→ Cyanosis

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 Acyanotic CHD…

4.Regurgitant Lessons
- Pulmonary valvular insufficiency
- Congenital mitral valve insufficiency
- Mitral valve prolapse

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 II. Cyanotic Congenital Heart Disease

1. Cyanotic lesions with decreased pulmonary

blood flow
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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 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
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 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
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 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

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 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

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 Cyanotic CHD…
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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 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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 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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 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

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 Cyanotic CHD…

Treatment
- PGE1
- Surgery - Aortico - pulmonary Shunt
- Bidirectional Glenn shunt
- Modified Fontan operation

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 Cyanotic CHD…
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

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 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
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 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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 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

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 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

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

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

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

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 Cyanotic CHD…
2.4 Single Ventricle
- No interventricular septum

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 Cyanotic CHD…
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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 Cyanotic CHD…
2.6 Persistent fetal circulation

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 Cyanotic CHD…
6. Dextroposition of the heart
7. Dextrocardia

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THANK YOU!!

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