1. Grown –Up Congenital Heart Disease (GUCH)
Mohammad Saifur Rohman, MD. PhD
Interventional Cardioloy Consultant
Lab. Cardiology and Vascular Medicine
Faculty of Medicine
University of Brawijaya

2. Definition
Adults with congenital heart defects are a group of patients which is fast growing in numbers, due to advances in cardiac surgery and intensive care in the 1970s and 80s.
Congenital heart disease (CHD) : Cardiac lesions present from birth
CHD in adult: Small defect, no correction, partial correction, post correction

3. Causes of congenital heart disease
No one cause can explain all cases. Many factors :
Genetic
Environmental
Affect cardiac development in the uterus;

4. Causes of congenital heart disease
Maternal rubella- in addition to cataracts, deafness, and microcephaly, 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- Brochiectasis,chronic sinusitis, situs inversus

7. 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

8. 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

9. Non Cyanotic Heart Disease
2 groups:
Left to right shunting (Septa l defects)
- PDA (Patent ductus Arteriosus)
VSD (Ventricular septal defect)
ASD (Atrial Septat defect)
Obstruction lesion in left or right heart without shunt
AS (Aortic stenosis)
CoA (Coarctation of Aorta)
PS (Pulmonary stenosis)

10. 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

11. Non cyanotic heart disease with left to right shunting
Shunting via defect
Overflow to pulmonary
size - location
of defect
Pulmonary vascular resistance

12. Pulmonary Vascular resistance

13. Non Cyanotic Heart Disease Symptoms
Pulmonary blood
flow overload
Depend on Pulmonary vascular resistance
asymptomatic
symptomatic
Dyspnea
Recurent respiratory infection
Fail to thrive
Heart failure

14. VENTRICULAR SEPTAL DEFECT
asymptomatic
Symptomatic

15. 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

16. VSD Volume overload of LV Big left to right shunt
Dilatation of LA, LV dan PA
Congestive heart failure

17. VSD A. Small VSD B. Moderate VSD C. Big VSD : PVR < SVR
Holosistolic murmur
 Left to right shunt
B. Moderate VSD
Early diastolic murmur
 Flow through mitral valve
C. Big VSD : PVR < SVR
Loud S2 (P2)
Ejection systolic murmur
 Flow through RV outflow tract
D. VSD besar : PVR > SVR
Load S2 (P2)
No  Shunting (-)

18. VSD Pulmonary hypertension in adult Cardiomegaly LA and LV dilatation
RV dilatation (PH)
Increased pulmonary vascularization (pletora)
Pulmonary hypertension in adult

19. Echocardiography

20. Echocardiography

21. 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

22. 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

23. 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

24. PDA Pulmonary hypertension in adult Overload of LA and LV
Big left to right shunting
Dilatation LA, LV, AO and PA
Congestive heart failure
Pulmonary hypertension in adult

25. 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

26. 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

27. PDA Small PDA Big PDA – PH  Left to right shunt
Continuous murmur – machinery murmur
 Left to right shunting during systolic and diastolic
Big PDA – PH
pulsus celler S2 (P2) Loud
Continuous murmur
 Left to right shunt
fase sistolik dan diastolik
Systolic murmur
fase sistolik
Murmur (-)
Early Diastolic murmur
 Mitral flow

28. 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

29. PDA IN ADULTS SYMPTOMATIC Heart failure digitalis diuretika
vasodilator
PH – PVR ?
LIGTION PDA
ADO
(BW> 8 kg)

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

31. ATRIAL SEPTAL DEFECT Shunting depend upon Defect size
Compliant of RV < LV
Left to right shunt

32. 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

33. 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.

34. 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

35. ASD Volume overload in RV Dilatation of RA, RV and PA
Pulmonary Hipertension
 sindroma Eisenmenger

36. ASD S2 wide fixed splitting Sistolic ejection murmur
pengosongan RV lama – katup pulmonal terlambat menutup
tidak berubah dengan respirasi
Sistolic ejection murmur
Flow through RVOT and PA
Diastolic murmur
Flow through trikuspid valve

37. 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.

38. 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

39. 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

40. ASD PH RA dilatation RV dilatation  prominent pulmonary segment
Increased pulmonary vaskularisation (pletora) PH
Wide of pulmonal and hilus
Ischemic of peripheral pulmonary vascular (pruning)

41. Echocardiography

42. Echocardiography

43. 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.

44. ASD ASD CLOSURE FR (Qp/Qs) > 1,5 SURGERY ASO (BW > 8 kg)
ASYMPTOMATIC
usia pra sekolah
(3 – 4 tahun)
SYMPTOMATIC
HEART FAILURE
digitalis
diuretika
vasodilator
PH : PVR ?

45. 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

46. 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

47. Pulmonary Hypertension

48. Infective Endocarditis

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

50. Eisenmenger’s syndrome

51. 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

52. 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.

53. 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

54. Clubbing fingers and toes

55. Thank You