1. Congenital Heart Disease

3. Congenital Heart Disease
Acyanotic:
With shunt: e.g. ASD, VSD, PDA
Without shunt: e.g. PS, coarctation of the aorta, congenital AS, congenital MS……
Cyanotic
With reduced pulmonary blood flow: e.g. TOF
With increased blood flow: TGA

4. Common Congenital Heart Disease
Atrial septal defect (ASD)
Osteum secundum
Osteum primum
Ventricular septal defect (VSD)
Patent ductus arteriosus (PDA)
Coarctation of the aorta
Congenital pulmonary stenosis
Tetralogy of Fallot (TOF)

5. Clinical Presentation of CHD
Asymptomatic
Congestive heart failure
Cyanosis and digital clubbing
Failure to thrive
Recurrent chest infections

6. Clinical Presentation of CHD
Heart murmur
Pulmonary hypertension with reversed shunt (Eisenmenger syndrome)

7. Pulmonary Hypertension
Initially caused by increased blood flow through the pulmonary vessels due to left-to-right shunt

8. Pulmonary Hypertension
Later on: structural changes affect the walls of pulmonary arterioles, including:
Arterial wall thickening
intraluminal thrombosis
Capillary obliteration

9. Pulmonary Hypertension
This leads to:
increased resistance to pulmonary blood flow
Reduction of pulmonary blood flow
Right-to-left shunt through the connection between the two circulations (reversed shunt, the Eisenmenger’s syndrome)

10. Eisenmenger’s Syndrome: clinical features
Cyanosis and clubbing
Raised JVP
Left parasternal heave (RVH)
Systolic expansion of the pulmonary artery
Palpable second heart sound
Loud pulmonary second sound

11. Eisenmenger’s Syndrome: clinical features
RV third heart sound
Murmurs:
early diastolic murmur at the pulmonary area (Graham-Steel murmur)
Tricuspid regurgitation (pansystolic murmur at LSB)

12. Eisenmenger’s Syndrome: clinical features
ECG:
Right axis deviation
Right ventricular hypertrophy (tall R waves in V1& V2)
Peaked P wave (RA enlargement)
CXR shows enlarged central pulmonary arteries & peripheral pruning of the pulmonary arteries

13. Complications of Cyanotic Heart Disease
Polycythemia: hyperviscosity syndrome
Hemoptysis, sometimes massive and fatal
Paradoxical embolization
Brain abscess

14. Atrial Septal Defect (ASD)
Osteum primum ASD:
part of endocardial cushion defects
associated with mitral regurgitation and tricuspid regurgitation
Osteum secundum ASD: at the area of fossa ovalis

15. ASD: Pathophysiology
Shunting of blood from LA to RA through the defect leads to dilatation of RA, RV, & PA, but not LA or LV

16. ASD: Pathophysiology
The magnitude of the shunt depends on the difference in compliance of the RV & LV. The size of the defect has a minor significance (≠VSD)

17. ASD: Symptoms Dyspnea Recurrent chest infections Heart failure
Arrhythmias (palpitations)

18. ASD: Signs ↑ JVP Left parasternal heave Fixed splitting of S2
Systolic murmur at the pulmonary area
NO THRILL is felt at the pulmonary area (unlike valvular PS)

19. ASD: Investigations ECG: CXR Echocardiography
Trans-esophageal echocardiography (TEE)

20. ASD: ECG Incomplete RBBB With secundum ASD: right axis deviation
With primum ASD: left axis deviation

21. ASD: CXR Dilated RV, RA, and PA
plethoric lungs: increased pulmonary arterial and venous markings

22. Echocardiography & TEE
Shows the size of the defect
The direction of blood flow
The pulmonary artery pressure

30. ASD: Management
Surgical closure when the shunt is large (exceeds 1.5:1)
Recently: closure with implantable closure devices during cardiac catheterization
Endocarditis prophylaxis for primum ASD

32. ASD: Management
Endocarditis prophylaxis is not required in osteum secundum ASD unless associated with other valvular or congenital defects

33. Ventricular Septal Defect (VSD)
Failure of septation of the ventricles
The interventricular septum is normally composed of small membranous and large muscular parts.

34. Ventricular Septal Defect (VSD)
The usual position of the defect is around the membranous septum (perimembranous VSD)

35. VSD: Pathophysiology
The magnitude of the shunt depends on the size of the defect & the relative systemic & pulmonary resistance

36. VSD: Pathophysiology
The shunt involves the LV, RV, PA, PVs, & LA

37. VSD: Pathophysiology The shunt does not involve the RA or the aorta
There is increased flow through the mitral valve & LV volume overload

38. VSD: Clinical Presentation
Dyspnea
Recurrent chest infections
Heart failure
Accidental finding of a murmur
Eisenmenger’s syndrome

39. VSD: Physical Findings
Hyperdynamic apex beat
Systolic thrill: flow through the defect
Physiological splitting of S2 (↑ with breathing)
S3: LV volume overload

40. VSD: Physical Findings
LV-RV shunt causes pansystolic murmur at the left sternal border
Increased flow through the mitral valve causes diastolic murmur at the apex

41. VSD: Investigations
ECG
CXR
Echocardiography

42. VSD: CXR Plethoric lungs Prominent main pulmonary artery LA dilatation
The heart size may be enlarged

43. VSD: ECG
LVH:
Tall R waves in V5 & V6
Deep S waves in V1 & V2

44. VSD: Echocardiography

48. VSD: Treatment Small defects: no indication for surgical closure
Attention should be paid for endocarditis prophylaxis

49. VSD: Treatment Large defects with heart failure:
Medical treatment: digoxin, diuretics, ACEIs
Definitive treatment: surgical repair of the defect
Lately: closure by catheterization (occluder)

50. VSD: Treatment If the Eisenmenger’s syndrome has developed:
Heart-lung transplantation

51. Patent Ductus Arteriosus
Normally, the ductus arteriosus closes before the 4th week of life
Failure of closure of the ductus is more common in females

52. PDA: Pathophysiology
Pressure gradient between the aorta & PA occurs throughout the cardiac cycle
This leads to continuous flow of blood from the aorta to PA

53. PDA: Pathophysiology The shunt involves PA, LA, LV, & aorta
The RV and RA are not involved in the shunt

54. PDA: Pathophysiology
The magnitude of the shunt depends on the size of the communication
Usually there is LV volume overload and increased flow through the mitral valve

55. PDA: Clinical Presentation
Exertional dyspnea
Recurrent chest infections
Congestive heart failure

56. PDA: Clinical Presentation
Eisenmenger syndrome with differential cyanosis:
Cyanosis of the toes but not the fingers
The right to left shunt bypasses the cerebral and upper limb vessels & flows directly into the aorta

57. PDA: Physical Findings
Large volume pulse
Left ventricular dilatation (displaced apex beat)
Systolic & diastolic thrills in the pulmonary area
Palpable systolic expansion of the pulmonary artery

58. PDA: Physical Findings
Left parasternal heave (RVH due to PHT)
Auscultation: continuous murmur in the pulmonary area (machinery murmur)

59. PDA: Investigations: CXR
LV & LA dilatation
Prominent main pulmonary artery
Plethoric lungs (increased pulmonary vascular markings: arterial and venous)
Prominent aorta
In older patients: the ductus may be calcified

60. PDA: Investigations ECG: LVH
tall R waves in chest leads V5 & V6
Deep S waves in chest leads V1 & V2
Echocardiography & Doppler: Demonstrates the site of the ductus and the continuous flow by Doppler

61. PDA: Management Closure of the ductus whatever the size
Usually closed through catheterization
Large ducts are closed surgically

66. Valvular Pulmonary Stenosis
Increased resistance for RV ejection
Pressure gradient between RV & PA
This leads to right ventricular hypertrophy
The forceful jet into the PA leads to dilatation of the main pulmonary artery

67. Valvular PS: Clinical Picture
Raised JVP
RVH: left parasternal heave
Systolic thrill in the pulmonary area
Faint pulmonary second sound
Systolic ejection murmur at the pulmonary area

68. Valvular PS: Investigations
ECG:
RVH: tall R waves in V1 & V2
CXR:
Oligemic lungs: reduced pulmonary blood flow
Prominent main pulmonary artery (post-stenotic dilatation)

69. Valvular PS: Investigations
Echocardiography:
Reduced pulmonary valve motion
Doppler: estimation of the gradient across the pulmonary valve

70. Valvular PS: Treatment
Transcatheter dilatation of the stenotic pulmonary valve using a balloon inflated at the pulmonary valve
If this fails: surgery

75. Coarctation of the Aorta
Narrowing of the aorta just distal to the origin of the left SCA

76. Coarctation of the Aorta
With age, collaterals form around the narrowing to bridge the proximal & distal parts

77. Coarctation of the Aorta
Usually associated with bicuspid aortic valve
More common in males

78. Coarctation of the Aorta: Clinical
Co A is an important cause of congestive heart failure in neonates
Often undetected during physical examination

79. Coarctation of the Aorta: Clinical
The hallmark is radio-femoral delay of the pulse

80. Hypertension may cause headache
Leg cramps: reduced circulation in the lower limbs

81. Coarctation of the Aorta: Clinical
BP is raised in the arms, normal in the legs
Auscultation:
systolic murmur over the coarctation (heard over the back)
Systolic ejection click (dilated aorta, bicuspid aortic valve)
Continuous murmur from flow into collaterals: heard best over the spine

82. Coarctation of the Aorta: Investigations
CXR:
Rib notching: from enlarged collaterals
Prestenotic and post-stenotic dilatation form the “3 sign” of the descending aorta

83. Coarctation of the Aorta: Investigations
Echocardiography:
Shows the site of stenosis & pressure gradient across it
MRI: can show the entire extent of the aorta

84. Coarctation of the Aorta: treatment
Early relief of obstruction: by surgery or catheter-based intervention
BP returns to normal
If intervention is delayed, HT may persist

85. Tetralogy of Fallot (TOF)
The four components of TOF are:
Ventricular septal defect
Over-riding aorta
Pulmonary stenosis, RV outflow tract obstruction
Right ventricular hypertrophy

86. TOF: Clinical Picture Cyanosis & clubbing
Squatting: sudden assumption of the sitting position in the upright patient:
This increases the LV afterload and reduces the magnitude of right -to-left shunt

87. TOF: Clinical Picture
Cyanotic spells: sudden lethargy and weakness with increased depth of cyanosis:
Fever
Crying
Exertion
Cause: Reduced pulmonary blood flow & increased shunting of blood to the left side

88. TOF: Physical findings
Clubbing
Cyanosis
Prominent RV impulse
No thrill (≠ valvular PS): reduced pulmonary blood flow

89. TOF: Physical findings
Auscultation:
single second heart sound
Faint systolic ejection murmur at the pulmonary area

90. TOF: investigation ECG: Chest X ray: Right ventricular hypertrophy
Right ventricular enlargement
Pulmonary bay (underdeveloped pulmonary artery)
The combination of these findings gives the “boot-shaped heart”

91. TOF: Treatment Surgical correction
If the PA is very small & underdeveloped: the aorta is anastomosed to the pulmonary arteries to enhance their growth before total correction ( Blalock-Taussig shunt)