A congenital heart defect is a problem with the structure of the heart. It is present at birth. Congenital heart defects are the most common type of birth defect. The defects can involve the walls of the heart, the valves of the heart, and the arteries and veins near the heart. They can disrupt the normal flow of blood through the heart. The blood flow can slow down, go in the wrong direction or to the wrong place, or be blocked completely. Doctors use a physical exam and special heart tests to diagnose congenital heart defects. They often find severe defects during pregnancy or soon after birth. Signs and symptoms of severe defects in newborns include Rapid breathing Cyanosis - a bluish tint to the skin, lips, and fingernails Fatigue Poor blood circulation Many congenital heart defects cause few or no signs and symptoms. They are often not diagnosed until children are older. Many children with congenital heart defects don't need treatment, but others do. Treatment can include medicines, catheter procedures, surgery, and heart transplants. The treatment depends on the type of the defect, how severe it is, and a child's age, size, and general health.

1. LEARNING OBJECTIVES
1. Definition
2. Clinical presentation
3. Aetiology
4. Incidence
5. Fetal Circulation
6. Classification
7. Clinical Features
8. Dextocardia
9. Ventricular Septal Defect
10. Atrial Septal Defect
11. Patent Ductus Arteriosus
12. Tetralogy of Fallot
13. Coarctation of Aorta
14. Grown-up congenital heart disease

2. CONGENITAL HEART DISEASE?
Congenital heart disease is the abnormality of the
heart present from birth.
Congenital heart disease usually manifests in
childhood but may pass unrecognized and not
present until adult life.
Defects that are well tolerated, such as atrial septal
defect may cause no symptoms until adult life or may
be detected incidentally on routine examination or
chest x-ray.

3. CONGENITAL HEART DISEASE?
Congenital heart disease is the abnormality of the
heart present from birth.
Congenital heart disease usually manifests in
childhood but may pass unrecognized and not
present until adult life.
Defects that are well tolerated, such as atrial septal
defect may cause no symptoms until adult life or may
be detected incidentally on routine examination or
chest x-ray.

4. CONGENITAL HEART
DISEASE?
Congenital defects that were previously fatal in
childhood can now be (completely or partially)
corrected so that survival to adult life is the norm.
Such patient remain well for many years but
subsequently re-present in later life with related
problems such as arrhythmia or ventricular
dysfunction.

5. PRESENTATION
BIRTH AND NEONATAL PERIOD
INFANCY AND CHILDHOOD
ADOLESCENCE AND ADULTHOOD
 Cyanosis
 Heart failure
 Cyanosis
 Arrhythmia
 Heart Failure
 Murmur
 Failure to thrive
 Arrhythmia
 Heart Failure
 Cyanosis (Eisenmenger’s
Syndrome)
 Hypertension
 Late consequences of
previous surgery

6. AETIOLOGY
1. Maternal infection (E.g. Rubella)
1. Maternal alcohol misuse
1. Maternal lupus erythematosus
1. Genetic or chromosomal abnormalities
5. Gene defects
6. Exposure to drugs or toxins
Associated with atrial septal defect, patent ductus arteriosus and
pulmonary valvular or/and artery stenosis.
Associated with septal defects
Associated with congenital complete heart block
Associated with septal defects

7. INCIDENCE
LESION % OF ALL CONGENITAL HEART DEFECTS
Ventricular Septal Defect 30
Atrial Septal Defect 10
Patent Ductus Arteriosus 10
Pulmonary Stenosis 7
Coarctation of Aorta 7
Aortic Stenosis 6
Tetralogy of Fallot 6
Transposition of Great Arteries 4
Others 20
The incidence of hemodynamically significant congenital cardiac
abnormalities is about 0.8% of live birth

8. FETAL
CIRCULATION

9. AFTER BIRTH

10. FETAL
CIRCULATIONIn the fetus, oxygenated blood comes through the (1) umbilical vein where it
enters the inferior vena cava via the (2) ductus venosus (red). The oxygenated
blood streams from the right atrium through the open (3) foramen ovale to the
left atrium and via the left ventricle into the aorta.
Venous blood from the superior vena cava (blue) crosses under the main blood
stream into the right atrium and then, partly mixed with oxygenated blood
(purple), into the right ventricle and pulmonary artery. The pulmonary vasculature
has a high resistance and so little blood passes to the lungs; most blood passes
through the (4) ductus arteriosus to the descending aorta. The aortic isthmus is a
constriction in the aorta that lies in the aortic arch before the junction with the
ductus arteriosus and limits the flow of oxygen-rich blood to the descending
aorta. Then blood passes throught the (5) umbilical artery and back to the
placenta.
BEFORE BIRTH

11. FETAL
CIRCULATIONAt birth, the lungs expand with air and pulmonary vascular
resistance falls, so that blood now flows to the lungs and back to the
left atrium. The left atrial pressure rises above right atrial pressure
and the flap valve of the foramen ovale closes. The umbilical
arteries and the ductus venosus close. In the next few days, the
ductus arteriosus closes under the influence of hormonal changes
(particularly prostaglandins) and the aortic isthmus expands
AT BIRTH

12. CLASSIFICATION
MALPOSITIONS OF THE HEART
 Dextocardia
SHUNTS
 Coarctation of Aorta
 Aortic Stenosis and Atresia
 Pulmonary Stenosis and Atresia
OBSTRUCTION
ACYANOTIC / LATE CYANOTIC CYANOTIC
 Ventricular Septal Defect (VSD)
 Atrial Septal Defect (ASD)
 Patent Ductus Arteriosus (PDA)
 Tetralogy of Fallot (TOF)
 Transposition of Great Arteries
 Persistent Trunchus Arteriosus
 Tricuspid Atresia and stenosis

13. CLINICAL
FEATURES Asymptomatic
 Breathless
 Cyanosis
 Failure to attain normal growth and development
 Growth restriction and learning difficulties
 Murmurs
 Thrills
 Signs of cardiomegaly
 Radiofemoral delay (Coarctation of Aorta)
 Syncope
 Digital clubbing
CLINICAL SIGNS
SYMPTOMS

14. DEXTOCARDIA
MALPOSITION OF THE HEART

15. Dextrocardia is a rare condition whereby the apex of the heart
points to the right side of the chest.
It may be accompanied by situs inversus so that all other organs
of the body are also transposed in similar way and thus heart is
in normal position in relation to them. However, isolated
dextrocardia is associated with major anomalies of the heart
such as transposition of the atria in relation to ventricles or
transposition of the great arteries.
WHAT IS DEXTOCARDIA?

16. DEXTOCARDIA

17. SYMPTOMS
There are no symptoms of dextrocardia if the heart is normal.
Conditions that may include dextrocardia may cause the following
symptoms:
 Bluish skin (cyanosis)
 Difficulty breathing
 Failure to grow and gain weight
 Fatigue
 Jaundice (yellow skin and eyes)
 Pale skin (pallor)
 Repeated sinus or lung infections

18.  Chest x-ray
 CT Scan of the heart
 Electrocardiogram
 MRI of the heart
 Echocardiogram
DIAGNOSTIC TESTS

19. TREATMENT
A complete mirror image Dextrocardia with no heart defects requires no
treatment.
The type of treatment needed depends on the heart or physical problems
the infant may have in addition to dextrocardia.
If heart defects are present with dextrocardia, the baby will most likely need
surgery.
 Water pills (diuretics)
 Drugs that help the heart muscle pump more forcefully (inotropic agents)
 Drugs that lower blood pressure and ease the workload on the heart (ACE
inhibitors)
MEDICATIONS

20. VENTRICULAR
SEPTAL
DEFECT
ACYANOTIC GROUP

21.  VSD is the most common congenital anomaly of the heart
and comprises about 30% of all congenital heart diseases.
 Occurs as a result of incomplete septation of the ventricles.
 The smaller defects often close spontaneously, while larger
defects remain patent and produce significant effects.
 Acquired ventricular septal defect may result from rupture
as a complication of acute MI or rarely from trauma.
VENTRICULAR SEPTAL
DEFECT

22. VENTRICULAR SEPTAL
DEFECT

23. CLINICAL
FEATURES1. Pansystolic murmur
2. Cardiac failure (in infants)
3. Eisenmenger’s Syndrome
4. Parasternal pulsation
5. Tachypnea
6. Indrawing of the lower ribs on
inspiration
CHEST X-RAY
Chest x-ray shows pulmonary
plethora
ELECTROCARDIOGRAM (ECG)
Bilateral ventricular hypertrophy

24. COMPLICATIONS
1. Pulmonary hypertension
1. Right ventricular hypertrophy
1. At a later stage, the pressure on the right
side is higher than on the left side creating
late cyanotic heart disease.

25. MANAGEMENT
 Small ventricular septal defects require no specific treatment.
 Cardiac failure in infancy is initially treated medically with
digoxin and diuretics.
 Persisting failure is an indication for surgical repair of the defect.
 Eisenmenger’s syndrome is avoided by monitoring for signs of
rising pulmonary resistance (serial ECG and echocardiography)
and carrying out surgical repair, when appropriate.
 Surgical closure is contraindicated in fully developed
Eisenmenger’s syndrome when heart–lung transplantation may
be the only effective treatment.
Except in Eisenmenger’s syndrome, long-term prognosis is very good in
congenital ventricular septal defect. Many patients with Eisenmenger’s
syndrome die in the second or third decade of life.

26. ATRIAL
SEPTAL
DEFECT
ACYANOTIC GROUP

27.  Isolated ASD comprises about 10% of congenital
heart diseases.
 The condition remains unnoticed in infancy and
childhood till pulmonary hypertension is induced
causing late cyanotic heart disease and right-
sided heart failure.
ATRIAL SEPTAL
DEFECT

28. Depending upon the location of the defect, there are 3 types of ASD:
A. Fossa Ovalis type or Ostium Secundum type is the most common
form comprising about 90% cases of ASD. The defect is situated in
the region of the fossa ovalis that, in utero, was the foramen ovale
A. Ostium Primum type comprises about 5% cases of ASD. The defect
lies low in the interatrial septum adjacent to atrioventricular
valves. There may be cleft in the aortic leaflet of the mitral valve
producing mitral insufficiency.
A. Sinus venosus type accounts for about 5% cases of ASD. The
defect is located high in the interatrial septum near the entry of
the superior vena cava.
TYPES

29. TYPES

30. TYPES

31. ATRIAL SEPTAL
DEFECT

32. CLINICAL
FEATURES
CHEST X-RAY
Enlargement of the heart and pulmonary artery as well as pulmonary
plethora
ELECTROCARDIOGRAM (ECG)
Incomplete right bundle branch block
1. Asymptomatic
2. Dyspnea
3. Chest infections
4. Cardiac failure
5. Arrhythmias (atrial fibrillation)
CHARACTERISITC PHYSICAL SIGN
1. Wide, fixed splitting second heart sound
2. Systolic flow murmur over the pulmonary valve

33. INVESTIGATIONS
1. Chest x-ray
2. Electrocardiogram
3. Transoesophageal echocardiogram
Directly demonstrate the defect and typically shows RV dilatation, RV
hypertrophy and pulmocary artery dilatation, as well as the precise size and
location of defects.

34. COMPLICATIONS
1. Pulmonary hypertension
1. Enlargement of the right side of the heart
1. At a later stage, the pressure on the right
side is higher than on the left side creating
late cyanotic heart disease.

35. MANAGEMENT
 Pulmonary flow in Atrial Septal Defects will be increased by 50%
than the systemic flow. For example 1.5 : 1 ratio of flow.
 This problem should be corrected surgically.
 Closure can be accomplished by using cardiac catheterization of
implantable closure device.
Long term prognosis is excellent except if there is pulmonary hypertension
as it is contradict for surgery.

36. PATENT
DUCTUS
ARTERIOSUS
ACYANOTIC GROUP

37.  Normally, the ductus closes soon after birth but sometimes
fails to do so. Persistence of the ductus is associated with
other abnormalities and is more common in females.
 Since the pressure in the aorta is higher than that in the
pulmonary artery, there will be a continuous arteriovenous
shunt, the volume of which depends on the size of the ductus.
 If pulmonary vascular resistance increases, pulmonary artery
pressure may rise until it equals or exceeds aortic pressure.
The shunt through the defect may then reverse, causing
Eisenmenger’s Syndrome.
PDA

38. PDA

39. CLINICAL
FEATURES
ELECTROCARDIOGRAM (ECG)
Evidence of right ventricular hypertrophy in Eisenmenger’s syndrome
1. Asymptomatic (small shunts)
2. Growth and development retardation
3. Dyspnea
4. Cardiac failure
CHARACTERISITC SIGN
1. Continuous machinery murmur
2. Thrill
3. Increase in pulse volume

40. MANAGEMENT
1. Patent ductus is closed with cardiac catheterisation of an
implantable occlusive device.
2. Closure should be undertaken in infancy if the shunt is
significant and pulmonary resistance not elevated
3. When the ductus is structurally intact, a prostaglandin
synthetase inhibitor (Indometacin or Ibuprofen) may be
used in the first week of life to induce closure.
4. However, in the presence of a congenital defect with
impaired lung perfusion (E.g. severe pulmonary stenosis),
it may be advisable to improve oxygenation by keeping
the ductus open with prostaglandin treatment.

41. TETRALOGY
OF
FALLOT
CYANOTIC GROUP

42.  Tetralogy of Fallot is the most common cyanotic
congenital heart disease, found in about 1 in 2000
births.
 Classically there are 4 defects:
1. Ventricular septal defect
2. Pulmonary stenosis
3. Right ventricular hypertrophy
4. Overriding aorta
TOF

43. TOF

44.  Cyanosis ( or Tets Spell)
 Stunting of growth
 Digital clubbing
 Polycythemia
CLINICAL
FEATURES
PHYSICAL EXAMINATION
 Loud ejection systolic murmur

45.  Chest x-ray
 Abnormally small pulmonary artery
 Boot-shaped heart
 Echocardiogram
Demonstrate that the aorta is
not continuous with the anterior
ventricular septum
INVESTIGATIONS

46. MANAGEMENT
 The definitive management is total correction of the defect by
surgical relief of the pulmonary stenosis and closure of the
ventricular septal defect.
 Primary surgical correction may be undertaken prior to the age
of 5 years.
 If the pulmonary arteries are too hypoplastic, then palliation in
the form of a Blalock–Taussig shunt may be performed, with an
anastomosis created between the pulmonary artery and
subclavian artery.
The prognosis after total correction is good, especially if the operation is
performed in childhood. Follow-up is needed to identify residual shunting,
recurrent pulmonary stenosis and arrhythmias.

47. COARCTATION
OF
AORTA
OBSTRUCTION

48.  Narrowing of the aorta occurs in the region where the ductus
arteriosus joins the aorta, i.e. at the isthmus just below the origin of
the left subclavian artery.
 The condition is twice as common in males and occurs in 1 in 4000
children.
 Associated with other abnormalities, most frequently bicuspid aortic
valve and ‘berry’ aneurysms of the cerebral circulation
 Acquired coarctation of the aorta is rare but may follow trauma or
occur as a complication of a progressive arteritis (Takayasu’s disease)
COA

49. COA

50.  Often asymptomatic when detected in older children or adults
 Headache (due to hypertension proximal to coarctation)
 Weakness or cramps in legs (due to decreased circulation in the lower part
of the body)
 Weak and delayed femoral pulse as compared to radial pulse
 Systolic murmur
CLINICAL FEATURES
CHEST X-RAY
 Normal in early childhood
 May show contour of the aorta (indentation of descending aorta)
 Notching of under-surfaces of the ribs from collaterals
MRI
 Normal in early childhood
 May show contour of the aorta (indentation of descending aorta)
 Notching of under-surfaces of the ribs from collaterals

51.  Chest x-ray
 Normal in early childhood
 May show contour of the aorta (indentation of descending aorta)
 Notching of under-surfaces of the ribs from collaterals
 Electrocardiogram
 Left ventricular hypertrophy
 Echocardiogram
 MRI
INVESTIGATIONS

52. MANAGEMENT
 In untreated cases, death may occur from left ventricular
failure, dissection of the aorta or cerebral haemorrhage
 Surgical correction is advisable in all but the mildest cases.
 Patients repaired in late childhood or adult life often remain
hypertensive or develop recurrent hypertension later on.
 Recurrence of stenosis may occur as the child grows and this
may be managed by balloon dilatation and sometimes stenting.

53. MANAGEMENT

54. GROWN-UP
CONGENITAL HEART
DISEASE

55.  There are increasing number of children who have had surgical
repair of defects and who may have further problems as adult.
 The transition period between paediatric and adult care needs to
be managed carefully.
 Those who have undergone correction of COA may develop hypertension
in adult life.
 Those who have had surgery involving the atria may develop atrial
arrhythmias and those who have ventricular scars may develop
ventricular arrhythmias
 Such patient require careful follow-up from teenage years
througout adult life so that peoblems can be identified early and
appropriate medical or surgical management can be done.