1. CONGENITAL HD OverviewBY
RAGAB ABDELSALAM (MD)
Prof. of Cardiology

2. Causes:
Inheritance:
A multifactorial etiology has been assumed in which interaction
between hereditary predisposition
and environmental influences
resultsin the defects.

3. Maternal factors - Maternal diabetes - Maternal phenylketonuria.
- Maternal alcohol
consumption and fetal alcohol
syndrome
- Genetic risk factors.

4. - Familial congenital heart
- A family history of a cardiac or noncardiac defect in either a parent or a preceding sibling is a major risk factor
- Familial congenital heart
defects are often concordant by phenotype and developmental
mechanism

5. - A search for risk factors such as gestational diabetes mellitus
Genotype-phenotype correlation:
- Careful family history of first- and second-degree relatives, including detailed analysis of pregnancy loss, racial origin, and consanguinity
- A search for risk factors such as gestational diabetes mellitus

6. Classification of congenital heart diseases

10. Murmurless Congenital Heart Diseases
a) Cyanotic diseases
- - Transposition of great arteries
- Pulmonary atresia with intact septum - total anomalies of pulmonary venous drainage
- Tricuspid atresia with or without pulmonary atresia

11. - Coronary artery originating from pulmonary Artery.
b) Acyanotic diseases
- Core triatriatum
- Severe coarctation
- Coronary artery originating from pulmonary Artery.
- Endocardial fibroelastosis

12. c) Others - Hypoplastic left heart syndrome
- Single ventricle without obstruction.
- Hypoplastic left heart syndrome

13. * Duct dependent lesions
- These are lesions presenting very early in life that are dependent on ductal patency for survival
 These lesions fall into two main categories

14. - Pulmonary atresia with intact septum pulmonary atresia with VSD-
A) Cyanotic lesions in which pulmonary blood flow is almost or totally dependent on the duct
Severe tetrallogy of fallot-
- Pulmonary atresia with intact septum
pulmonary atresia with VSD-
Critical pulmonary stenosis-

15. B) Acyanotic lesions Aortic atresia. - Critical aortic stenosis-
Iterrupted aortic arch -
- Severe pre-or juxtaductal Coarctation -

16. Clinical information (cyanosis)
The radiographic classification of CHD relies on:
Clinical information (cyanosis)
2- Plain film information (increased pulmonary vascularity, decreased pulmonary vascularity (

17. I ) Acyanotic CHD with increased pulmonary vascularity.
Common denominator of these lesions is that there is a L-R shunt where pulmonary flow is greater than true aortic flow;

18. 3- Patent ductus arteriosus
The shunt can be located in:
1- Ventricular septal defect.
2- Atrial septal defect.
3- Patent ductus arteriosus

19. 4- Uncommon lesions:
- Aorticopulmonary window.
-Ruptured sinus of Valsalva aneurysm, coronary artery fistula
5- Other
- Endocardial cushion defect
- PAPVC

20. II) Acyanotic CHD with normal pulmonary vascularity
Normal pulmonary vascularity is associated with either outflow
obstruction or valvular insufficiency:

21. B) Valvular insufficiency:
A) Outflow obstruction:
- Coarctation of aorta
- Interruption of aortic arch
- Aortic stenosis
- Pulmonary stenosis / insufficiency
B) Valvular insufficiency:
- Aortic insufficiency
- Pulmonary insufficiency

22. III) Cyanotic CHD with decreased pulmonary vascularity
- Common denominator of these lesions is that there is a decreased pulmonary vascularity due to obstruction of pulmonary blood flow.
- In addition, there is an intracardiac defect through which blood is shunted away from the lungs causing cyanosis.

23. * Types: Normal heart size - Tetralogy of Fallot
- Fallot variants ( trilogy, pulmonary atresia / pseudotruncus I/II)

24.  ddx: 1 - Uhl's disease (RV myocardium absent with tricuspid atresia)
Increased heart size
- Ebstein's anomaly (largest heart in CHD)
- Tricuspid atresia
 ddx: 1 - Uhl's disease (RV myocardium absent with tricuspid atresia)
2-Pulmonary stenosis with ASD

25. IV) Cyanotic CHD with increased pulmonary vascularity (admixture lesions)
- Common denominator of these lesions is that there is an "admixture" of systemic and pulmonary venous blood (bidirectional shunting. -

26. - Clinical symtoms: CHF, cyanosis, recurrent pneumonia, growth retardation.
- The admixture of venous blood may occur at the level of:

27. * Large veins: * Large arteries: - Truncus arteriosus
- Total anomalous pulmonary venous connection (ASD is also present)
* Large arteries:
- Truncus arteriosus

28. Atrium Ventricle - Single ventricle
- Transposition of great arteries (VSD is also present).
Ventricle
- Single ventricle
- DORV (types I, II = Taussig-Bing.

29. 1- Pink tetralogy: TETRALOGY VARIANTS
- 1/3 have mild pulmonary valvular obstruction with large VSD, allowing sufficient pulmonary flow.
- Pulmonary atresia and VSD = pseudotruncus, extreme end of the spectrum.
- Infundibular hypertrophy in VSD (3%)

30. 2- Pentalogy of Fallot: 3- Trilogy of Fallot:  Tetralogy + ASD
 PA stenosis + RV hypertrophy +Patent foramen ovale , or (ASD)

31. TRANSPOSITION OF GREAT ARTERIES (TGA)
Types:
Complete transposition of great arteries (D-TGA)
AORTA ORIGINATES FROM RV
- PA originates from LV
- Normal position of atria and ventricles

32. Corrected transposition of great arteries (L-TGA):
- Inversion of ventricles
- The relative position of aorta and pulmonary artery can be derived from the diagram on the right.

33. D-TGA (COMPLETE TRANSPOSITION):
Two independent circulations exist:
• Blood returning from body  RV  blood delivered to body (aberrant aorta)
• Blood returning from lung LV  blood delivered to lung (via ASD,etc).

34. This circulatory pattern is incompatible with life unless there are associated anomalies that permit mixing of the two circulations, e.g., through ASD, VSD, or PDA.
• Hemodynamics: depends on the level of admixture and R->L shunting.
• RA and RV enlarged.

35. GENERAL:
Situs stuff:
- Abdominal situs refers to position of liver and stomach:
a) Abdominal situs solitus: liver on right, stomach on left (normal)
b) Abdominal situs inversus: liver on left, stomach on right

36. c) Thoracic situs refers to position of the tracheobronchial tree:

37. 2- Left main bronchus inferior to left PA
Thoracic situs solitus (normal)
1- Left main bronchus longer than right main bronchus
2- Left main bronchus inferior to left PA
3- Right main bronchus superior to right PA

38. Dxtrocardia

39. Type I ( situs inversus totalis) with
1- Mirror-like malposition of the heart
2 - Mirror-like malposition of other viscera.
3 - Kartegner suyndrome: Situs inversus , sinusitis & bronciectasis

40. Type II: ( Isolated dextrocardia)
1- Mirror-like cardiac malposition.
1- Normal position of other viscera.
3- serious cardiac anomalies.

41. Type III ( Dextroversion with):
1- Heart is merely displaced to right.
2- RV remains to right & LV remains to left.
3- Serious cardiac anomalies.

42. Type IV (Dextroposition) : Aquired dextrocardia:
The heart is displaced by external factors: Pulmonary , pleural or diaphragmatic

43. Acquired dextrocardia
Congenital dextrocardia
Acquired dextrocardia
1- No apparent cause
1- Apparent cause ( pushing or pulling) the heart
2- Trachea is central
2- Trachea is displaced to the right
3- Apex is localized (LV)
3- Diffuse ( as it is formed by RV)
4- Situs inversus may be presnt
4- Absent
5- Associated congenital anomalies
5- Absent

44. 3) Eisenmenger”s syndrome
The three common cynotic
Heart Diseases
1) Falot tetralogy
2) fallot Trilogy.
3) Eisenmenger”s syndrome

45. Prominent A & systolic expansion
Fallot Tetralogy
Fallot Triology
Eisenmenger”s
Cyanosis
(Onset)
Usually since birth
Late ( First on excersion
Cyanotic spells
Present
Absent
Squatting
Cyanosis & clubbing
Marked
Moderate
Neck veins
Normal
Prominent A & systolic expansion

46. Present & diastolic shock
Fallot Tetralogy
Fallot Triology
Eisenmenger”s
RVH
Mild or moderate
Marked
Systolic thrill
Absent or mild
absent
PA-pulsation
Present & diastolic shock

47. Closely split& accentuatred P2
Split with weak P2
single S2
Present
Absent
Click
Mild
Harsh
Mild or moderate
Syst. murmur
PR ( usually)
absent
Diast. murmure

48. Gallop ECG X- Ray Never present May be present RVH ,but no strain
RVH with stran
X- Ray
- Lung oligemia , small PA ,coeur en Sabot & Right aortic arch
Lung oligemia, enlarged PA, , Big heart & normal aortic arch
Peripheral lung oligemia,enlarged main PA & its two branches+ Big heart

49. PS , Determine the site of defect & PH+ Valvular PS - ASD - RVH VSD
- aortic overriding
Echo

50. Catheter may pass from RV to aorta
Catheteri- zation
Low PA pressure ,
RV & aortic pressures are equal ,
Catheter may pass from RV to aorta
RV Angio Anatomy
RV pressure may exceed aortic pressure ,
Catheter cannot pass from RV to aorta
RV angio  anatomy r
High PA pressure
- RV pressure may exceed

52. Diagnostic Work-up 6- Others: 1- Clinical assessment. 2- ECG. 3- X-ray
4- Echo-Doppler assessment.
5-Cardiac catheterizatiopn.
6- Others:
- MRI.
-CT.
- Radionucleide assessment.

53. Special X-Ray Cotour

54. * Examples: 1- Boot-shaped heart (Coeur-en Sabot ) Fallot Tetralogt
2- Scimitar” syndrome ( figure of- 8) Total anomalies of the pulmonary venous drainage
3- Box-shaped heart  Ebstein “

55. 4- Goose-neck appearance Trunchus arteriosus.
5- Figure of (3)  Coarctation of aorta.
6- Reverse appearance on barium swallow (E-sign) Coarctation of aorta.
7- Rib-notching  Coarctation of aorta.
8- Egg-en situ  TGA.

56. Boot-shaped heart ( Coeur-en)

59. Scimitar” syndrome ( figure of- 8)

61. Rib-notching

62. Aneurysmally Dilated Pulm. Artery
(special left)

63. Egg-en situ.

64. Box-shaped heart.

65. Echocardiography

66. VSD

67. VSD

68. Endocardial Cashion Defect

69. Fallot” Tetralogy

70. TGA

71. TGA

72. Double –outlet RV

73. Problems with Congenital HD

74. All congenital HD are prone to IE except ASD.
1- Infective Endocarditis:
All congenital HD are prone to IE except ASD.
2- Heart failure.
3- sudden Death.

75. 4- Hematologic complications of chronic hypoxemia include:
- Erythrocytosis; iron deficiency and
bleeding diathesis
- Hemostatic abnormalities have been documented in cyanotic patients with erythrocytosis and can occur in up to 20% of patients.

76. 5 - Neurologic complications:
- Cerebral hemorrhage.
- Paradoxical cerebral emboli.
- Brain abscess.
6 - Renal dysfunction:
- It can manifest itself as proteinuria, hyperuricemia, or renal failure .
- Urate nephropathy, uric acid nephrolithiasis and gouty arthritis are rare but may occur.

77. 7- Rheumatologic complications: 8- Gallstones:
It is composed of calcium bilirubinate and consequent cholecystitis .

78. 9- Arrhythmias Patients with Eisenmenger syndrome are at risk for sudden cardiac death, the etiology of which remains poorly defined .

79. The choice of antiarrhythmic drugs are complicated by:
-The presence of ventricular dysfunction and lung disease.
- The pro-arrhythmic effects.
- The use of pacemakers to treat bradyarrhythmias, which are primary or secondary to antiarrhythmic therapy can be complicated by Inadequate venous access.

80. 10 -The decision to use anticoagulants:
It is complicated by the presence of:
- Bleeding diathesis.
- Difficulty obtaining a true measure of INR due to reduced plasma volume.

81. Interventional Options 1- Percutaneous closure of intracardiac shunts.
A variety of devices can be used to close ASDs, PDAs and occasionally VSDs
2- Palliative surgical interventions :
It is performed in patients with cyanotic lesions.
They are defined as those operations which serve to either increase or decrease pulmonary blood flow while allowing a mixed circulation and cyanosis to persist.

82. 4- Heart & Lung Transplantation :
3- Physiologic repair:
It is a term which can be applied to procedures which result in total or near-total anatomic and physiologic separation of the pulmonary and systemic circulations in complex cyanotic lesions thereby resulting in relief of cyanosis.
4- Heart & Lung Transplantation :
One or both lungs with surgical shunt closure and heart-lung transplantation have been performed in cyanotic patients with or without palliation who are no longer candidates for other forms of intervention.