1. Congenital Heart Disease
Faculty of Medicine
University of Brawijaya

2. Definition
Cardiac lesions present from birth

3. Causes of congenital heart disease
Many factors both genetic and environmental affect cardiac development in the uterus; therefore no one cause can explain all cases

4. Causes of congenital heart disease
Maternal rubella- in addition to cataracts, deafness, and microcephaly, this can cause patent ductus arteriosus (PDA) and pulmonary stenosis
Fetal alcohol syndrome- associated with cardiac defects (as well as microcephaly, micrognathia, microphthalmia, and growth retardation)

5. Causes of congenital heart disease
Maternal systemic lupus erythematosus – associated with fetal complete heart block (due to transplacental passage of anti-Ro antibodies)

6. Genetic associations with congenital heart disease
Trisomy 21- endocardial cushion defects, atrial septal defect (ASD), ventricular septal defect (VSD), tetralogy of Fallot.
Turner’s syndrome (X0)- coarctation of the aorta
Marfan syndrome- aortic dilatation and aortic and mitral regurgitation
Kartagener’s syndrome

7. Complications of congenital heart disease
Cyanosis – the presence of more than 5g/dL of reduced hemoglobin in arterial blood
Congestive heart failure – this occurs due to the inability of the heart to maintain sufficient tissue perfusion as a result of the cardiac lesion

8. Complications of congenital heart disease
Pulmonary hypertension-this occurs as a result of an abnormal increase in pulmonary blood flow due to left-to-right shunt (e.g ASD, VSD, PDA)
Infective endocarditis – congenital heart disease may result in lesions prone to bacterial colonization

9. Complications of congenital heart disease
Sudden death – this may be due to arrhythmias (more common in these disorders) or outflow obstruction as seen in aortic stenosis

10. Classification of cyanotic congenital heart disease
Classification of cyanoctic congenital heart disease by the amount
of pulmonary blood flow seen on chest x ray.
Increased Pulmonary Blood Flow Normal or Decreased Pulmonary Blood Flow
Tricuspid atresia with large VSD
Tricuspid atresia with restrictive VSD
Total anomalous pulmonary venous return
Pulmonary atresia with intact ventricular septum
Truncus arteriosus
Ebstein’s anomaly
D-transposition of the great arteries
D-transposition of the great arteries with pulmonary stenosis
Taussig-Bing anomaly
Double outlet right ventricle with pulmonary stenosis
Tetralogy of Fallot with minimal right ventricular outflow tract obstruction
Tetralogy of Fallot
Tetralogy of Fallot with pulmonary atresia and increased collateral flow
Tetralogy of Fallot wit pulmonary atresia
Single ventricle without pulmonary stenosis
Single ventricle with pulmonary stenosis
Interrupted aortic arch with PDA
Vena cava to left atrium communication
Hypoplastic left heart syndrome
ASD with Eisenmenger’s syndrome
VSD with Eisenmenger’s syndrome
PDA with Eisenmenger’s syndrome

11. Chest X ray Blood flow to lung Acyanotic heart disease Normal
Increased
EKG
LVH/BVH
-VSD
-PDA
-AVSD
RVH
-PS
-MS
RVH
-ASD
-PAPVR
-PVOD
LVH
-MI
-AS
-KoA
Echocardiography, cardiac catheterization

12. Cardiac malformations
Ventricular septal defect (VSD)
Atrial septal defect (ASD)
Patent ductus arteriosus (PDA)
Pulmonary stenosis – causes cyanosis if severe
Coarctation of the aorta
Aortic stenosis
Tetralogy of Fallot – causes cyanosis
Transposition of the great arteries – causes cyanosis
Other causes of cyanotic congenital heart disease-pulmonary atresia, hypoplastic left heart, severe Ebstein’s anomaly with ASD

13. ASD Of left to right shunt: VSD PDA volume burden
Patofisiologi left to right shunt
Of left to right shunt:
volume burden
dilatation/hipertrophy
ASD
VSD
PDA

14. Atrial Septal Defect (ASD)

15. 3 types of Atrial septal defect
(1) Septum primum (ostium primum ASD)- this defect lies adjacent to atrioventricular valves, which are often also abnormal and incompetent
(2) Septum secundum (ostium secundum ASD)- the most common form of ASD, it is midseptal in location

16. 3 types of Atrial septal defect
(3) Sinus venosus ASD – this lies high in the septum and may be associated with anomalous pulmonary venous drainage (in which one of the pulmonary veins drains into the right atrium instead of the left.

17. Clinical features
The magnitude of the left-to-right shunt depends upon the size of the defect and also the relative pressures on the left and right sides of the heart.

18. History Early life: asymptomatic
Adult life: dyspnea, fatigue, recurrent chest infections
As time goes by, the increased pulmonary blood flow results in pulmonary hypertension and eventually reversal of the shunt and Eisenmenger syndrome

19. Examination
The findings of a patient who has an ASD depend upon the following factors:
Size of ASD
Presence or absence of pulmonary hypertension
Present of reversal

20. Examination
The second heart sound is widely split because closure of the pulmonary valve is delayed due to increased pulmonary blood flow.
The splitting is fixed in relation to respiration because the communication between the atria prevents the normal pressure differential between right and left sides that occurs during respiration.

21. Examination
The increased pulmonary blood flow causes a mid systolic pulmonary flow murmur.
If PH has developed  reduction of the left-to-right shunt, the pulmonary flow murmur disappears; there is a loud pulmonary component to the second heart sound
If Eisenmenger’s syndrome occurs  centrally cyanosed, finger clubbing

22. Investigations EKG Chest radiography
Ostium secundum ASD: right axis deviation
Ostium primum defect: left axis deviation
Chest radiography
Pulmonary arteries: dilated, its branches are prominent
Enlarged right atrium, enlarged right ventricle

23. Echocardiography

24. Echocardiography

25. Cardiac catheterization
To reveal ASD, because the catheter can be passed across it.
Serial oxygen saturation measurements are made at different levels from the superior vena through the atrium and the right ventricle into the pulmonary artery.
At the level of the left-to-right shunt there will be a step up increase of the oxygen saturation as blod flow from the left side enters the right.

26. Management of ASD
Signs of congestive heart failure: diuretics and ACE inhibitors
ASD carries a risk of infective endocarditis  appropriate prophylactic measures should be taken

27. Management of ASD
Early diagnosis  evaluate its severity to be able to repair the defect before pulmonary hypertension occurs.
If PH (+), repair does not stop its deterioration. ASD with pulmonary to systemic flow ratio exceeding 1,5:1 should be repaired.

28. Ventricular Septal Defect (VSD)

29. VSD The most common congenital cardiac abnormality
The ventricular septum is made up of two main components:
The membraneous septum- situated high in the septum and relatively small. The most common site for a VSD.
The muscular septum- lower and defects here may be multiple.

30. Clinical features Neonates: Adult: Small VSD: asymptomatic
Large VSD  left ventricular failure :
Failure to thrive, feeding difficulty, sweating on feeding
Tachypnea and intercostal recession
Hepatomegaly
Adult:
Asymptomatic
Dyspnea due to PH or Eisenmenger syndrome

31. Examination Findings depend on: Size of VSD:
small VSD: loud holosystolic murmur, radiates to the apex and axilla
Loud VSD: less loud holosystolic murmur with signs of left and right ventricular hypertrophy
Presence or absence of pulmonary hypertension
Presence of shunt reversal

32. Investigations
Chest radiography: enlarged left ventricle with prominent pulmonary vascular markings. Pulmonary edema may be seen in infants.
Echocardiography: shows VSD and its size and location

33. Echocardiography

34. Echocardiography

35. Management
30% of cases close spontaneously, mostly by the time the child is 3 years of age.
Some do not close until the child is 10 years old.
Defects near the valve ring or near the outlet of the ventricle do not usually close

36. Management
Operative closure is the treatment of choice and is recommended for all lesions that have not undergone spontaneous closure
VSD  risk factor for infective endocarditis  appropriate prophyalctic measures should be taken

37. Patent ductus arteriosus (PDA)

38. PDA
In the fetus most of the output of the right ventricle bypasses the lungs via the ductus arteriosus
This vessel joins the pulmonary trunk (artery) to the descending aorta distal to the left subclavian artery.
The ductus arteriosus normally closes about 1 month after birth in full-term infants and takes longer to close in premature infants

39. Clinical features
The factors that determine the nature of clinical features are the same as in VSD and ASD i.e the size of the defect, the presence of PH, the development of Eisenmenger’s syndrome
A patent PDA is more likely in babies born at high altitude, probably due to low atmospheric oxygen concentration; it may also occur In babies who have fetal rubella syndrome

40. History Small PDA: asymptomatic
Large PDA: large left-to-right shunt  left ventricular failure with pulmonary edema causing failure to thrive and tachypnea
Adults with undiagnosed PDA may develop PH and present with dyspnea

41. Examination
Collapsing high-volume pulses – this is due to the effect of the run-off of blood back down the ductus
Loud continuous machinery murmur

42. Management
Pharmacological closure in neonates – indomethacin may induce closure if given early
Operative closure – this can be performed as an open procedure in which the PDA is ligated or divided
Or using ADO (Amplatzer ductal occluder) by cardiac catheter

43. Management
PDA is a risk fractor for infective endocarditis  antibiotic prophylaxis is required for all patients before operative procedures.

44. Eisenmenger’s syndrome

45. Eisenmenger’s syndrome
Refers to the situation in which a congenital cardiac abnormality initially causes acyanotic heart disease, but cyanotic heart disease develops as a consequence of raised pulmonary pressure and shunt reversal

46. Eisenmenger’s syndrome
These clinical features are also seen in patients who have cyanotic congenital heart disease
Cyanosis develops when the level of reduced hemoglobin is over 5 g/dL.

47. Complications of Eisenmenger’s syndrome
Clubbing fingers and toes
Polycythemia and hyperviscosity- with resulting complications of stroke and venous thrombosis. Regular phlebotomy is the treatment of choice
Cerebral abscesses-especially in children
Paradoxical emboli- emboli from venous thrombosis may pass across the shunt and give rise to systemic infarcts

48. Clubbing fingers and toes

49. Thank You