1. Congenital heart diseases
CHD are the abnormalities of the heart or blood vessels that are present from birth.
Disorders arise during the 3rd to 8th week of gestation as major heart structure begin and form to function.

2. INCIDENCE
VSD %
ASD %
Pulmonary stenosis 8%
PDA %
TOF %

3. Etiology and pathogenesis
In 90% of the cases the cause is unknown. In 10% of the cases, The environmental & genetic factors (multifactorial) leading to CHD. Single gene mutation, chromosomal deletion or additions. Single gene mutations that affect proteins of transcription factors.

4. The environmental factors responsible for CHD are
Congenital rubella infection
Gestational diabetics
Teratogenic effects (Isotretinoin, alcohol,)
And nutritional defect( folate supplements reduce the risk of CHD)
Living in high altitude(PDA)

5. Maternal risk factors Increasing age> 45 year old
Previous child having congenital heart disease.
Poorly controlled Diabetes Mellitus (VSD,AV stenosis)
Alcohol intake during pregnancy (VSD,PS)
Congenital rubella infection(PDA,VSD,ASD)
Drugs like Diphenylhydantoin(PS,AV stenosis)

6. Mutations in NOTCH pathway associated with bicuspid aortic valve and TOF
Fibrillin defect Marfan syndrome (Coarctation of aorta)
The three transcription factors mutation (GATA 4, TBX5 NKX2-5)responsible for the ASD and VSD in some patients.
Trisomy 21 in this 40% of patients will have CHD.

7. CONGENITAL HEART DEFECTS
Overall incidence 1% of USA births.
The incidence is higher among the premature infants than full term newborns.
The 1st degree relatives of affected patients are increased risk of developing CHD.

8. The three main classification are
Malformations causing Left to right shunt
1.ASD
2.Patent foramen ovale
3.VSD
4.PDA
5.Atrio ventricular septal defect

9. Consequences of Left right shunt
Volume overload in the right side of the heartpulmonary Hypertension RVH (concentric hypertrophy) LVH due to more blood to left side of the heart(ecentric hypertrophy) Reversal of the shunt due to increase in the pressure more on the right side than the left side, leads to cyanosis late onset (EISENMENGER SYNDROME) Also called as TARDIVE CYANSOS

10. LEFT to RIGHT SHUNTS, NON-cyanotic

11. Malformation causing right to left shunt
1.TOF
2.Transpositions of great arteries
3.Perstitent Trancus arteriosus
4.Triscupid atresia

12. Consequences due to right to left shunt
unoxygenated blood mixing up with oxygenated blood reducing the O2 saturation on the left side of the heart leads to CYANOSIS.(Depends on volume of blood) Polycythemia due to decrease in the O2 saturation stimulates the release of erythropoitin from kidney in turn increase in the RBC production. Clubbing --Reduced O2 saturation.

13. Coarctation of aorta PS and atresia AS
Obstructive congenital anomalies
Coarctation of aorta
PS and atresia AS

14. Atrial Septal Defect
ASD is an opening in the atrial septum permitting free communication of blood between the atria. Seen in 10% of all CHD.
More common in females than males.

16. ASD
It is an abnormal opening in the atrial septum due to incomplete tissue formation.
Usually asymptomatic until adulthood
SECUNDUM (90%): Defective fossa ovalis
PRIMUM (5%): Next to AV valves, mitral cleft
SINUS VENOSUS (5%): Next to SVC with anomalous pulmonary veins draining to SVC or RA

17. Atrial Septal Defect There are 3 major types:
Secundum ASD – at the Fossa Ovalis, most common.
• Primum ASD – lower in position & is a form of ASVD, MV cleft.
• Sinus Venosus ASD – high in the atrial septum, associated w/partial anomalous venous return & the least common.

19. Atrial Septal Defect
Secundum ASD
Sinus Venosus ASD

20. Clinical Signs & Symptoms
Atrial Septal Defect
Clinical Signs & Symptoms
Rarely presents with signs of CHF or other cardiovascular symptoms.
• Most are asymptomatic but may have easy fatigability or mild growth failure.
• Cyanosis does not occur unless pulmonary HTN is present.

21. Atrial Septal Defect
• wide and Fixed split S2. Grade II-III/VI systolic ejection murmur LSB.(functional murmur) Complications HF PH Paradoxical embolization •

22. Atrial Septal Defect
Treatment: • Closure is performed electively between ages 2 & 5 yrs to avoid late complications. Once pulmonary HTN w/ shunt reversal occurs this is considered too late. • Mortality is < 1%. •

23. Patent foramen ovale
It is a small hole created by an open flap of tissue in the atrial septum.
Important during fetal circulation right to left shunt from the placenta.
Closes spontaneously at birth remain open leads to PFO.

24. Patent foramen ovale
The foramen ovale is patent in 20-30% of normal adults. Although it usually remains functionally closed, any abnormality increasing right atrial pressure above left atrial pressure can produce a
right-to-left shunt across a patent foramen ovale.

25. A 5-year-old boy is found to have a harsh holosystolic murmur
heard at the left 4th intercostal space. The child has a history
of recurrent pneumonias and respiratory tract infections. An
echocardiogram reveals a heart defect and biventricular cardiac
hypertrophy. Cardiac catheterization discloses pulmonary hypertension

26. VSD By far, most common CHD defect Only 30% are isolated
Often with TETRALOGY of FALLOT
90% involve the membranous septum
If muscular septum is involved, likely to have multiple holes
SMALL ones often close spontaneously
LARGE ones progress to pulmonary hypertension.

28. Ventricular Septal Defect
VSD – is an abnormal opening in the ventricular septum, which allows free communication between the Rt & Lt ventricles. Accounts for 42% of CHD.

29. Ventricular Septal Defect
Two types
Perimembranous (or membranous) – Most common.
Infundibular VSD) – involves the RV outflow tract.
• Muscular VSD – can be single or multiple. •

30. Ventricular Septal Defect
Hemodynamics
The left to right shunt occurs secondary to VSD.
This leads to elevated RV & pulmonary pressures & volume hypertrophy of the LA & LV.

31. Ventricular Septal Defect
Clinical Signs & Symptoms
• Small - moderate VSD, 3-6mm, are usually
asymptomatic and 50% will close spontaneously
by age of 2yrs. •.
• Moderate – large VSD, almost always have
symptoms and will require surgical repair.

32. Ventricular Septal Defect
Clinical Signs & Symptoms
• II-III/VI harsh holosystolic murmur heard along the LSB, more prominent with small VSD,
maybe absent with a
very Large VSD. •
Complications
Pulmonary hypertension,
CHF,
FTT,
Respiratory infections, exercise intolerance
Symptoms develop between 1 – 6 months

33. Ventricular Septal Defect
Treatment • Small VSD - no surgical intervention, no physical restrictions, just reassurance and periodic follow-up and endocarditis prophylaxis. • Symptomatic VSD - Medical treatment initially with afterload reducers & diuretics.

34. Ventricular Septal Defect
Treatment
Indications for Surgical Closure:
Large VSD w/ medically uncontrolled symptomatology leads to failure to thrive.
Ages 6-12 mo w/ large VSD & Pulm. HTN

35. VSD

36. VSD

37. PDA
As a result of ductus arteriosus( blood from PA to aorta during fetal period)
90% isolated
HARSH, machinery-like murmur
LR, possibly RL as pulmonary hypertension approaches systemic pressure
Closing the defect may be life saving
Keeping it open may be life saving (Prostaglandin E2). Why?
Ans: TGA, TA, TAPVC

40. PDA

41. Patent Ductus Arteriosus
PDA – Persistence of the normal fetal vessel that joins the PA to the Aorta.
Normally closes in the 1st wk of life can remain patent up to 21 days, if it fails to close after 21 days, it is a patent PDA.
Accounts for 5% of all CHD, seen in 10% of other congenital heart lesions and can often play a critical role in some lesions.
Female : Male ratio of 2:1
Often associated with coarctation & VSD.

42. Patent Ductus Arteriosus
Question:
What TORCH infection is PDA associated with?
• Answer:
Rubella

43. Patent ductus arteriosus (PDA)
Patent ductus arteriosus (PDA) is associated with prematurity.
and congenital rubella infection.
Pregnant women living in high altitude.
Present in Neonatal respiratory distress syndrome complication.

44. PDA and differential cyanosis
“differential cyanosis” i.e. cyanosis of the lower extremities but not of the upper body. Differential cyanosis is the result of reduced arterial oxygen saturation in the distal aorta compared to that in the aorta proximal to the left subclavian artery.
The most likely cause is right-to-left shunting of blood flow through a patent ductus arteriosus (PDA) into the junction between the aortic arch and the descending aorta.

45. Reversal of shunt leading to cyanosis in the lower limbs, called as Differential cyanosis

46. Patent Ductus Arteriosus
Hemodynamics
As a result of higher aortic pressure, blood shunts L to R through the ductus from Aorta to PA.
Extent of the shunt depends on size of the ductus & PVR:SVR.(Pulmonary vascular resistance :systemic vascular resistance)
Small PDA, pressures in PA, RV, RA are normal.

47. Clinical Signs & Symptoms
Small PDA’s are usually asymptomatic.
Large PDA’s can result in symptoms of CHF,
, Failure to thrive
Enlarged heart, prominent apical impulse
Classic continuous machinary systolic murmur. OR
Train in a tunnel murmur.
Gibson’s murmur.

48. Patent Ductus Arteriosus
Treatment
Indomethacin, inhibitor of prostaglandin synthesis can be used in premature infants.
PDA requires surgical or catheter closure.
Closure is required treatment heart failure & to prevent pulmonary vascular disease.
Usually done by ligation & division or intra vascular coil.
Mortality is < 1%

49. 7.In the uncomplicated patent ductus arteriosus, as might be seen in an infant 6 months of age, blood flows from the aorta to the:
A. pulmonary vein
B. pulmonary artery
C. right ventricle
D. right atrium
E. left atrium

50. A 2-week-old girl is found to have a harsh murmur along the
left sternal border. The parents report that the baby gets “bluish”
when she cries or drinks from her bottle. Echocardiogram
reveals a congenital heart defect

51. Right-to-Left Shunts Tetralogy of Fallot
Tetralogy of Fallot is the most common cause of cyanotic congenital heart disease. The four componants are
(1) VSD,
(2) obstruction to the right ventricular outflow tract (subpulmonic stenosis),
(3)Overriding of the aorta
(4) right ventricular hypertrophy

53. TOF

54. The heart is large and "boot shaped" in tetralogy of Fallot as a result of right ventricular hypertrophy;
The VSD is usually large.
The aortic valve forms the superior border of the VSD.
The obstruction is due to narrowing of the infundibulum.

55. right ventricular wall is markedly thickened and may even exceed that of the left.
VSD of the membranous portion of the interventricular septum, and the
aortic valve lies immediately over the VSD.
The pulmonary outflow tract is narrowed, and, in a few cases, the pulmonic valve may be stenotic..

56. Clinical features . PINK TETROLOGY
If the pulmonic obstruction is mild, the condition resembles an isolated VSD, because the high left-sided pressures on the left side cause a left-to-right shunt with no cyanosis.

57. More commonly, marked stenosis causes significant right-to-left shunting and consequent cyanosis early in life. As patients with tetralogy grow, the pulmonic orifice does not enlarge, despite an overall increase in the size of the heart. Hence, the degree of stenosis typically worsens with time resulting in increasing cyanosis.

58. Cause
Antero superior displacement of the infundibular septum, so that there is abnormal division into the pulmonary trunk and aortic root.

59. Cyanotic spells,
patients develop erythrocytosis with attendant hyperviscosity, (polycythemia)
Clubbing
and hypertrophic osteoarthropathy;
Infective endocarditis,
systemic emboli, and
 brain abscesses.

60. Transposition of the Great (TGA)
Transposition of the Great (TGA) is a discordant connection of the ventricles to their vascular outflow.
The embryologic defect is an abnormal formation of the truncal and aortopulmonary septa, so that
the aorta arises from the right ventricle and
the pulmonary artery emanates from the left ventricle
The atrium-to-ventricle connections, however, are normal (concordant),

61. Aorta lies anterior and to the right of the pulmonary artery.
TGA
Aorta lies anterior and to the right of the pulmonary artery.

65. Clinical Features The predominant manifestation of TGA is early cyanosis. The outlook for neonates with TGA depends on the degree of the shunting, the magnitude of the tissue hypoxia, and the ability of the right ventricle to maintain systemic pressures. Infusions of prostaglandin E2 can be used to maintain the patency of the ductus arteriousus.

66. Patients with TGA and a VSD (∼35%) tend to have a relatively stable shunt.
But patients with PDA and patent foramen ovale have unstable shunt.

67. Tricuspid atresia
Complete occlusion of the tricuspid valve orifice is known as tricuspid atresia.
Embrionically unequal division of AV canal, so mitral valve is larger and hypoplasia of the right ventricle.
Cyanosis present from birth and high mortality in the 1st few weeks.

69. Obstructive Heart Lesions
Pulmonary Stenosis
Aortic Stenosis
Coarctation of the Aorta

70. Obstructive Lesions
Coarctation of the aorta
It is the constriction of the aorta.
Common in males.
Females with Turners syndrome is quite common.

71. Two classic forms are
Infantile form -Tubular hypoplasia of the aortic arch proximal to the PDA is often symptomatic in early childhood severe form.
Adult form-- is ridgelike infoldings of the aorta just opposite to the closed PDA.

72. Some times more then 50% of cases is accompanied by
Bicuspid aortic valve
Congenital ASD VSD,
Mitral regurgitation
Berry aneurysms.

74. Clinical features. If it is with PDA symptoms in early life present.
Cynosis of the lower limbs and weak femoral pulses.
In adult life present with HT in the upper extremities. And weak pulse and hypotension in the lower limbs, with arterial insufficiency leading to intermittent claudication and coldness.

75. Clinical Signs & Symptoms
Lower extremity
Classic signs of coarctation are diminution or absence of femoral pulses.
Intermittent claudication
Hypotension in the lower extremity.
Differential cyanosis if it is infantile with patent PDA.
Lower extremity muscle weakness or fatigue with exercise maybe caused by inadequate
lower body perfusion. .
Upper extremity
Higher BP in the upper extremities as compared to the lower extremities.
Headache and dizziness, epistaxis.
Berry aneurysms and sub archinoid hemorrhage

76. Rib notching
Development of collaterals between the pre coarctation and post coarctations through the enlarged inter costal arteries produces erosions of the undersurface of the ribs, called rib notching.

77. Adult-type 1 postductal coarctation greatly increased by the finding of enlarged, palpable intercostal vessels which indicate the development of a collateral
arterial circulation to the region of the aorta distal to the coarctation

78. Postductal coartation

79. Coarctation of the Aorta
Question:
What other heart anomaly is coarctation associated with?
Answer:
Bicuspid aortic valve, seen in > 70% of cases.

80. Coarctation of the Aorta
Question:
What genetic syndrome is coarctation seen in?
Answer:
Turner’s Syndrome

81. Coarctation of the Aorta
Hemodynamics
Obstruction of left ventricular outflow  pressure hypertrophy of the LV.

82. Coarctation of the Aorta
HF and shock.
Differential cyanosis if PDA is still open
Cardiomegaly,
Rib notching on X-ray.

83. Coarctation of the Aorta

84. Coarctation of the Aorta
Treatment
With severe coarctation maintaining the ductus with prostaglandin E is essential.
Surgical intervention, to prevent LV dysfunction.
Angioplasty is used by some centers.
Re-coarctation can occur, balloon angioplasty is the procedure of choice.

86. Angiogram coarctation of aorta

88. Pulmonary Stenosis
Pulmonary Stenosis is obstruction in the region of either the pulmonary valve or the subpulmonary ventricular outflow tract.
Accounts for 7-10% of all CHD.
Most cases are isolated lesions
Maybe biscuspid or fusion of 2 or more leaflets.
Can present w/or w/o an intact ventricular septum.

89. Pulmonary Stenosis Treatment
Mild PS no intervention required, close follow-up.
Mod-severe – require relieve of stenosis.
Balloon valvuloplasty, treatment of choice.
Surgical valvotomy is also a consideration.

90. Aortic Stenosis . 3 Types Valvular – Most common.
Subvalvular(subaortic) – involves the left outflow tract.
Supravalvular – involves the ascending aorta is the least common.

91. Clinical Signs & Symptoms
Aortic Stenosis
Clinical Signs & Symptoms
Mild AS may present with exercise intolerance, easy fatigabiltity, but usually asymptomatic.
Moderate AS – Chest pain, dypsnea on exertion, dizziness & syncope.
Severe AS – Weak pulses, left sided heart failure, Sudden Death.

92. Left ventricular hypoplastic syndrome
Severe congenital AS leads to obstruction to left ventricular outflow causing Hypoplasia of the left ventricle and ascending aorta.

93. Clinical Signs & Symptoms
Aortic Stenosis
Clinical Signs & Symptoms
LV thrust at the Apex.
Systolic rt base/suprasternal notch.
Ejection click, III-IV/VI systolic RSB/LSB w/ radiation to the carotids.

95. Aortic Stenosis Treatment
Aortic insufficiency & re-stenosis is likely after surgery and may require valve replacement.
Activity should not be restricted in Mild AS.
Mod-severe AS, no competitive sports.