Congenital Heart disease [CHD]

Kussia Ayano [MD]

 Fetal Circulation
• For the fetus the placenta is the oxygenator so
the lungs do little work
• RV & LV contribute equally to the systemic
circulation and pump against similar resistance
• Shunts are necessary for survival
– ductus venosus (bypasses liver)
– foramen ovale (R→L atrial level shunt)
– ductus arteriosus (R→L arterial level shunt)
 Transitional Circulation
• With first few breaths lungs expand and serve
as the oxygenator (and the placenta is
removed from the circuit)
• Foramen ovale functionally closes
• Ductus arteriosus usually closes within first 1-
2 days
 Neonatal Circulation
• RV pumps to pulmonary circulation and LV
pumps to systemic circulation
• Pulmonary resistance (PVR) is high; so initially
RV pressure ~ LV pressure
• By 6 weeks pulmonary resistance drops and LV
becomes dominant
 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
Evaluation of an infant with congenital heart
disease
• History and P/E
• Color- cyanosis
• HR,PR ,BP
• Peripheral perfusion
• Abnormal heart sounds
• Cardiac murmurs
• Cardiomegally
• Chest x ray
• Cardiomegally
• Pulmonary blood flow-normal/↑ed/↓ed
• Echo cardiography
• ECG-hypertrophy
• Cardiac catheterization
 CHD…
Relative Frequency of Congenital Heart Lesions
Lesions % of all Lesions
- Ventricular septal defect 25-30
- Atrial 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
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
- Ostium primum (ECD)
- Sinus venosus
Pathophysiology
 Left to right shunt
- Transatrial in OS & SV
- Transatrial & transventricular in OP
 Acyanotic CHD…
Clinical Manifestations
 Most are asymptomatic
 Right ventricular lift
 Wide & fixed split of 2nd heart sound
 Systolic ejection murmur
 Mid-diostolic murmur at tricuspid area
 Holosystolic murmur at mitral area in OP
(ECD)
 Acyanotic CHD…
Diagnosis
 Clinical
 CXR - Right. V & A enlargement
- Large pulm. artery
- ↑ed pulm. vascularity
 ECG - volume overload, Rt ventricle & atrium
 Echocardiography
 Catheterization
Prognosis - Well tolerated
 Acyanotic CHD…

Complications - pulmonary Hypertension

Eismenger syndrome
Treatment
 Surgery-for all symptomatic
 Asymptomatic patients with shunt ratio > 2:1
 Acyanotic CHD…
1.2 Ventricular Septal Defect
 The most common cardiac malformation
 Defect occur in any portion of the septum
- Majority membranous
- Swiss-cheese defect
Pathophysiology
 Lt to Rt shunt
 Restrictive if defect is small (0.5cm2)
 Non-restrictive - large defect (> 1cm2)
- Right vent. Pressure equalized
 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
- Accentuated 2nd heart sound
- Mid-diastolic apical M when shunt ratio > 2:1
- heart failure usually occurs around 2 months of age
 Acyanotic CHD…
Diagnosis
- Clinical
- CXR - Cardiomegaly
- Plethoric lung
- ECG
- Echocardiography
Prognosis
- 30-50% small defects close
- Rarely moderate to large defects close
 Acyanotic CHD…
Complications
- Infective endocarditis
- Recurrent lung infection
- Heart failure
- Pulmonary HTN

Treatment
- Small defects - reassurance
- Oral hygiene
- Large defects - medical treatment (control of CHF,
prevent IE, prevent development of p. arterial
HTN)
- Surgical repair between 6-12m
 Acyanotic CHD…
1.3 Patent Ductus Arteriosus
 Functional closure soon after birth
 Aortic end of the ductus distal to the
origin of subclavian artery and the other
end of bifurcation of pulmonary artery.
 Male to female ratio 1:2
Pathology - Deficiency mucoid endothelial
layer & muscular or media in
term infant.
 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
 signs of heart failure
 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
 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
 Acyanotic CHD……
Hemodynamics
• RV pressure hypertrophy  RV failure.
• RV pressures maybe > systemic pressure.
• Post-stenotic dilation of main PA.
• With intact septum & severe stenosis  R-L
shunt through PFO  cyanosis.
• Cyanosis is indicative of Critical PS.
 Pulmonary Stenosis
Clinical Signs & Symptoms
• Depends on the severity of obstruction.
• Asymptomatic w/ mild PS < 30mmHg.
• Mod-severe: 30-60mmHg, > 60mmHg
• Prominent jugular a-wave, RV lift
• Ejection click, followed by systolic murmur.
• Heart failure & cyanosis seen in severe cases[critical
pulmonary stenosis]
 Acyanotic CHD…

Diagnosis
- Clinical
- CXR - Rt vent. enlargement
- reduced pulm. blood flow
- ECG
- Echocardiography
 Acyanotic CHD…

Prognosis - good in mild to moderate

Complications - CHF in severe Ps
- rarely IE
Treatment - vavular PS - balloon valvoplasty
- surgery
 Acyanotic CHD…

2.2 Aortic Stenosis

- Valvular - the commonest
- Supra valvular
- Subvalvular (subaortic)
 Acyanotic CHD…
Clinical Manifestation
 Mild stenosis
- Normal pulse & apical impulse
- Systolic ejection M
- Normal to enlarged heart size
- exercise intolerance, easy fatigabiltity, but usually
asymptomatic
 Critical stenosis
- Left ventricular failure
- pulm. edema, cardiomegaly
- Weak peripheral pulses
- Weak systolic M
- syncope, Sudden Death.
 Acyanotic CHD…
Diagnosis
- Clinical
- CXR
- ECG
- Echocardiography
- Graded exercise testing
 Acyanotic CHD…
Prognosis is good for mild to moderate
Treatment
- Balloon valvoplasty
- Surgical
 Coarctation of the Aorta
• Coarctation- is narrowing of the aorta at varying
points anywhere from the transverse arch to the iliac
bifurcation.

• 98% of coarctations are juxtaductal

• Male: Female ratio 3:1.

• Accounts for 7 % of all CHD.

 Coarctation of the Aorta
Hemodynamics
• Obstruction of left ventricular outflow 
pressure hypertrophy of the LV.
 Coarctation of the Aorta
Clinical Signs & Symptoms
• Classic signs of coarctation are diminution or absence of
femoral pulses.

• Higher BP in the upper extremities as compared to the

lower extremities.
• Radio femoral delay

• 90% have systolic hypertension of the upper extremities.

• Pulse discrepancy between rt & lt arms.

 Coarctation of the Aorta
Clinical Signs & Symptoms
• With severe coarc. LE hypoperfusion, acidosis, HF
and shock [neonatetes].

• Differential cyanosis if ductus is still open

• II/VI systolic ejection murmur @ LSB.

• Cardiomegally, rib notching on X-ray.

 Acyanotic CHD…

Prognosis – Untreated cases succumb by 20-40 yrs

Complications - CVA
- I/E
- Aneurysms
Treatment
- Medical - IV PGE1 in neonatal age
- Surgery
 II. Cyanotic Congenital Heart Disease

1. Cyanotic lesions with decreased pulmonary

blood flow
1.1 Tetralogy of Fallot [TOF]
Consists: 1. Rt ventricular outflow obst.
2. Ventricular septal defect
3. Dextroposition of the aorta
4. Right ventricular hypertrophy
 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
 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
 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
 Cyanotic CHD…

Treatment
Severe outflow obstruction
- Medical Px - PGE1 infusion
- Prevent dehydration
- Partial exchange transfusion
- Oral propranolol for tet spells
- Surgery
 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)

 Cyanotic CHD…
Clinical Manifestation
- Cyanosis at birth
- Respiratory distress
- Single 2nd heart sound
- No murmur
Diagnosis
- CXR
- ECG
- Echocardiography
Treatment - PGE1
- Surgery
• 1.3.Tricuspid atresia
• Absence of any connection between Rt atrium and
ventricle leads to blood being diverted from Rt
atrium to Lt atrium
• Rt ventricle hypoplastic
• Survival depends on associated VSD,PDA
Treatment
- PGE1
- Surgery
 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
- Pulmonary venous return to Lt atrium Normal
- Aorta arises from Right ventricle
- Pulm. artery arises from Lt vent. pathology
 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
 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
 Cyanotic CHD…
 Discordant atrio-ventricular relation
(ventricular inversion)
 Transposition of great arteries
Clinical Manifestation
Depends on associated malformation like VSD
 Cyanotic CHD…
Diagnosis
- Clinical
- CXR - Cardiomegaly
- Narrow mediastinum
- Increased pulmonary blood flow
- ECG
- Echocardiography
Treatment
- PGE1 - emergency
- Surgery
 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
- Systolic ejection m
Treatment - surgery