1. Congenital Cardiovascular
Anomalies
Dr. Kalpana Malla
MBBS MD (Pediatrics)
Manipal Teaching Hospital
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2. Contents
• General concepts of
congenital heart diseases.
• Atrial Septal Defect.
• Ventricular Septal Defect.

3. Incidence:
• ~1% in the general population (6-8 per 1000 live
births)
• Incidence in stillborns (3-4%), aborted fetus (10-
25%), premature infants (2%)
• Diagnosis made in 40-50% by one week of age, in
50-60% by 1 mo of age

4. Incidence
• Recurrence risk - if h/o one affected sibling –
• VSD, PDA  3%
• TOF, ASD2.5%
• Tricuspid atresia, Ebstein anomaly1%

5. Relative frequencies of major CHD:
Lesions % of all lesions
• VSD 25-30
• ASD 6-8
• PDA 6-8
• Coarctation of Aorta 5-7
• TOF 5-10
• Pulmonary valve stenosis 5-7
• Aortic valve stenosis 4-7

6. Relative frequencies of major CHD
Lesions % of all lesions
• TGA 3-5
• Hypoplastic left heart 1-3
• Truncus Arteriosus, TAPVR,
Tricuspid atresia, Single ventricle,
Double outlet rt ventricle 1-2
 Others 5-10

7. Etiology –1.Genetic
• Inheritance- Dominant pattern –
• ASD, supravalvular aortic
stenosis, cardiomyopathy
• Osteogenesis Imperfecta: Aortic regurgitatio
• Marfan Syndrome:
Aortic dilatation, aortic & mitral incompetence

8. CHD with chromosomal abnormalities
5 % associated with Chromosomal anomalies:
• Trisomy 13, 18 (>90%), 21 (50%)
• 18 Trisomy - VSD, PDA, DORV
• 13 Trisomy - Dextocardia,VSD, PDA
• 21 Trisomy Downs syndrome - A-V canal
defect, VSD

9. CHD with chromosomal abnormalities
• Turner’s syndrome (40%) - Coarctation of
aorta, aortic stenosis
• Deletion chromosome 22q11: Di George syn
• Familial cardiomyopathies: HCM, DCM

10. Etiology: 2.Gender Factors
• Occur equally among males and
females, but—
– More common in males:
aortic stenosis, coarctation of the aorta
– More common in females:
PDA, ASD

11. Etiology: 3. Environmental
• High altitude
• Maternal Ds
a) Diabetes: TGA ,VSD, situs inversus,
single ventricle, hypoplastic left
ventricle
b) SLE: Congenital heart block

12. 3. Environmental Factors
3. Maternal Infections:
– Rubella: PDA, pulmonary stenosis, VSD, ASD
• Mumps: Endocardial Fibroelastosis
4. Maternal Drugs:
– Lithium: Tricuspid valve abnormalities, Ebstein’s
Anomaly
– Thalidomide
– Alcohol abuse: VSD
- warfarin, anticonvulsants, antimetabolites , Phenytoin
: Variable

13. Classification of congenital heart disease:
1. Acyanotic
2. Cyanotic lesions

14. Acyanotic
• volume load pressure load
-L→R shunts obstr. ventric. outflow
-ASD - Pulmonary valve stenosis
-VSD
- AV canal - Aortic valve stenosis
-Patent ductus arterisus - Coarctation of aorta

15. Cyanotic
↑ pulmonary flow ↓ pulmonary flow
• TGA • TOF
• Single ventricle • Pulmonary atresia
• Truncus arteriosus • Tricuspid atresia
• TAPVR w/o obstruction • TAPVR with
obstruction

16. Characteristics of patients with LR
shunts:
• Absence of cyanosis
• Frequent chest infections -Due to decreased
lung compliance which leads to frequent
respiratory tract infections
• Precordial bulge
• Excessive sweating - Tendency for CCF

17. Characteristics of patients with LR
shunts:
• Failure to thrive - due to poor oxygen
saturation in the growing tissues, persistent
heart failure, and frequent respiratory
infections with undernutrition
• Cardiomegaly
• Shunt & flow murmurs
• Plethoric lung fields

18. Characteristics of patients with obstructive
lesions:
• Absence of cyanosis or frequent chest
infections
• Normal precordial shape
• Forcible/heaving cardiac impulse, without
cardiomegaly
• Delayed S2

19. Obstructive lesions (contd)
• Ejection systolic murmur, with thrill
• Absence of diastolic murmurs
• Normal sized heart with normal pulmonary
vascularity
• Ventricular hypertrophy on ECG
• Chest pain- severe aortic stenosis lead to
myocardial ischemia

20. Characteristics of cyanotic patients:
• Cyanosis- Occurs under following circumstances
1. Reduced pulmonary blood flow in defects with
right ventricular outflow tract obstruction
2. R→L as in tetralogy of Fallot
3. Discordant ventriculoarterial connections – TGA
4. Mixing of venous and arterial blood – truncus
arteriosus or single ventricle

21. Characteristics of cyanotic patients:
• Hypercyanotic Spells
Fallot's tetralogy and defects with Fallot's
physiology
**Due to pulmonary infundibular stenosis

22. Characteristics of cyanotic patients:
• Clubbing
• Polycythemia
• Murmurs
• FTT

23. • Heart Failure occurs in following situations :
• Volume overload- all defects with L →R shunt like
VSD,ASD,PDA
• Pressure overload - in pulmonary and aortic valve
stenosis
• Intrinsic myocardial diseases -cardiomyopathies,
• Decreased or increased diastolic fillings -
tachyarrhythmias and bradyarrhythmias.

24. Investigations:
1. Chest X-ray: shape & size of
heart, vascularity, pulmonary edema, lung &
thoracic anomalies
2. ECG: Hypertrophy
3. Hematology: anemia (? Physiological, iron
deficiency), polycythemia

25. Investigations
5. Echocardiography/Doppler Echo: intracardiac
anatomy of all structural defects
, hemodynamic data regarding pressure
gradients across valves, cardiac
contractility, flow, vegetations

26. Investigations
6.Cardiac catheterisation: calculates 02
saturation, shunt volumes, pressures, etc
• Indications
• Preoperative identification of the lesions
• Peroperative physiological assessment of
pulmonary artery pressure and press gradient

27. Cardiac Catheterization
• Therapeutic interventional procedures
1.Baloon dilatation of stenotic valve and
coarctation of aorta
2. Blade and baloon atrial septoplasty
3. Non- surgical closure of PDA ,ASD
4.Catheter ablation of arrythmogenic focus by
pacemaker implantation

28. Investigations (contd):
7. Exercise testing
8. MRI
9. Angiocardiography
10.Interventional catheterisation

29. Management:
• Early identification of problem
• Supportive management:
1. Treatment of heart failure
2. Prevent frequent RTIs
3. Maintain required weight , Hb
4. Infective endocarditis prophylaxis
5. Regular follow-ups
• Surgical management

30. Atrial Septal Defect
– Defect in atrial
septum
– 6-8 % of all CHDs
– Male : female ratio is
1:2

31. ASD - classification
• Three major types
– Ostium secundum
• most common- 50-70%,
• In the middle of the septum in the region of the
foramen ovale
– Ostium primum -30%
• Low position
• Form of AV septal defect

32. ASD - classification
– Sinus venosus
• Least common-10%
• Site-at entry of superior venacava into right
atrium
• Mitral valve prolapse associated in ~20% with
ostium secundum or sinus venosus defect

33. Hemodynamics
• L R shunt at minor pressure difference-
silent
• Rt atrium receive blood from SVC,IVC + left
atrium rt atrium enlarges in size passes
through normal sized tricuspid valve
delayed diastolic murmur at lower left
sternal border rt.ventricle also enlarges
normal pulmonary valve pulmonary
ejection systolic murmur, prolonged ejection
phase of rt ventricle P2 delayed

34. Hemodynamics
• S2 normally is single in expiration ( both
component is superimposed on each other) &
split in inspiration( A2 component slightly
early P2 component is delayed)
• In ASD-S2 is widely split and fixed- as rt
ventricle fully loaded further increase in rt
ventricular volume during inspiration cannot
occur

35. Clinical manifestations:
• Usually asymptomatic
• Mild effort intolerance, frequent chest
infections may be +
• CCF - rare

36. Physical examination
• Slender built
• Parasternal impulse +
• Systolic thrill 2nd Lt. interspace – 10%

37. Auscultation
• S1 :normal or accentuated due to loud tricuspid
component
• S2: Widely split & fixed S2 with P2 accentuated
Murmur –
• Shunt murmur – absent
• Flow murmurs –
1. Pulmonary – ejection systolic grade 2-
3/6 at 2nd and 3rd lt interspace-widey
transmitted all over chest
2. tricuspid –delayed diastolic at lt lower
sternal border

38. ASD

39. Investigations:
1. CXR- mild to moderate cardiomegaly with enlarged
right atrium & right ventricle, prominent
pulmonary artery segment, increased pulmonary
vascular markings
2. ECG- RAD, RVH or RBBB with rsR’ pattern in V1
LAD - suggest O. primum defect
3. Echo- position, size, signs of LR shunt, flow

40. Natural history:
• Spontaneous closure in ~87% of ostium secundum
defects
1. ASD <3 mm size, diagnosed before 3 months of
age, spontaneous closure in 100% by 1.5 years of
age
2. ASD 3-8 mm size, spontaneous closure in 80% by
1.5 years of age
3. ASD > 8mm rarely closes spontaneously

41. Natural history:
• Mostly asymptomatic and active
• CHF & pulmonary HTN develop in untreated cases in
their 20s to 30s
• Atrial arrhythmias may occur in adulthood
• Infective endocarditis rarely occurs, with isolated
ASDs

42. Management:
• Medical: for CHF, chest infections
non-surgical closure-Clamshell
device, Sideris button device, Angel Wings, etc
• Surgical closure: delayed till 3-4 years of age
Indications: LR shunt Qp/Qs ratio:>1.5:1

43. VSD
• Communication
b/t two ventricles

44. VSD
• May occur alone or
with other
abnormalities
• About one-third of
small VSDs close
spontaneously

45. Ventricular Septal Defect
• Commonest acyanotic CHD (~25%)
• Associated with-Down Syndrome
Fetal hydantoin syndrome
Fetal alcohol syndrome
Trisomy 13, 18
Apert syndrome

46. Anatomy
• Compartments of ventricular septum:
- Membranous septum
- Inlet septum
- Trabecular septum
- Outlet or infundibular septum
• Defects result from a deficiency of growth or
failure of alignment or fusion of component
parts

47. Classification-pathology
1.Membranous VSD-
(perimembranous, paramembranous
, conoventricular, infracristal, subaortic) – Most
common (90%)
2.Muscular VSD- (Swiss cheese
,inlet, trabecular, central, apical, marginal ,or outlet
types)
3. Supracristal VSD-
(subpulmonary, outlet, infundibular, or conoseptal.
subarterial defect) Least common

48. Hemodynamics:
• L→R shunt in ventricles occur with high
pressure gradient throughout systole –
pansystolic murmur
• Blood to normal pulmonary valve – ejection
systolic murmur
• Large vol of blood to lungs – pul plethora
• Blood to left atrium – Lt. atrial enlrgement
• Blood to normal mitral valve – delayed
diastolic murmur at apex

49. Hemodynamics
• Lt ventricles to outlets – empties relatively
early – early A2
• Rt ventricle & pul artery – increased ejection
time – delayed P2-S2 widely split &variable

50. Hemodynamics
• Depends on: a) size of the shunt
b) PVR
• Based on size of VSD:
- Restrictive VSD(<0.5 cm2 )
- Moderately restrictive VSD
- Non-restrictive (>1 cm2 )

51. Restrictive VSD
• Small, hemodynamically insignificant
• Size <0.5 cm2
• Between 80% and 85% of all VSDs
• All close spontanously
50% by 2 years
90% by 6 years
10% during school years
• Muscular close sooner than membranous

52. A moderately restrictive VSD
• Size -> 0.5 cm2 (>5mm) in diameter
• Moderate shunt (Qp:Qs = 1.5-2.5:1.0)
• May lead to left atrial and LV dilation and
dysfunction, as well as a variable increase in
pulmonary vascular resistance

53. Large nonrestrictive VSDs
• Large VSDs with normal PVR
• Usually >1.0 (>10 mm) in diameter
• Usually requires surgery
• Will develop CHF and FTT by age 3-6 months

54. PVR (Pulmonary vascular R)
• At birth - PVR is higher than normal so pul
arterial pressure is equal to systemic
pressure→the L → R shunt is limited → no
clinical symptoms
• First few weeks of life (normal involution of the
media of small pulmonary arterioles) → fall in
PVR → L → R shunt increases and clinical
symptoms become apparent

55. • In some with a large VSD -pulm arteriolar
medial thickness never decreases –
so, continued exposure of the pulmonary
vascular bed to high systolic pressure→ high
flow → pulm vascular obstructive disease
develops
• When the ratio of pulm to systemic resistance
is 1:1, the shunt becomes bidirectional and
the patient becomes cyanotic (Eisenmenger
physiology).

56. Clinical Manifestations:
1. Small VSD: asymptomatic, normal growth
2. Moderate to large: repeated chest
infections, Effort intolerance ,fatigue , failure
to thrive, pulmonary HTN
3. If unoperated: Pulmonary HTN, cyanosis and
decreased level of activity

57. Physical examination
1. Small VSD: well developed, acyanotic
2. Moderate VSD: forceful LV impulse
, prominent systolic thrill along the lower left
sternal border

58. Physical examination
Large VSD: tachypneic, repeated chest
infections, poor weight gain, CHF
dyspnea, feeding difficulties, poor
growth, profuse perspiration, recurrent
pulmonary infections, and cardiac failure in
early infancy.
Reversal of shunt:
cyanosis, clubbing, respiratory distress.

59. Auscultation
• Heart sounds
• S1 : masked by pansystolic murmur
• S2: masked but can be heard at 2nd lt ICS –
widely split and variable, with accentuated P2
- single and loud (PAH)
• S3: maybe audible at the apex

60. Murmurs
• Shunt - loud, harsh, or blowing pansystolic
murmur grade 3-5/6 best heard at left 3rd &
4th interspaces is widely transmitted over the
precordium at lower LSB
• Flow –
• Pulmonary : ejection murmur (drowned)
• Mitral : rumbling delayed diastolic murmur at
the cardiac apex, indicates a Qp:Qs of 2:1 or
greater

61. Fairly large perimembranous VSD in

62. Chest radiography
• Small VSDs -N
• Medium- VSDs -minimal cardiomegaly and a
borderline increase in pulmonary vasculature
• Large VSDs – gross cardiomegaly . The
pulmonary vascular markings are increased
and frank pulmonary edema (Plethoric) if pul
arterial HTN
• Oligemic lung fields in reversal of shunt, pul
stenosis

63. Electrocardiography
• Depends on shunt size & degree of pulmonary
hypertension
• Small VSDs - N tracing
• Medium VSDs – broad, notched P wave ( left
atrial overload), LVH
• Large VSDs – RVH with right-axis deviation.
With further progression - biventricular
hypertrophy; P waves may be notched or
peaked
• RVH in Eisenmenger’s complex

64. Echocardiography
• Echo - Number, position & size of
defect, chamber size
• Two-dimensional echo – site, size of defect
,pul. stenosis or pul HTN

65. General principles, techniques, and goals
• Small VSDs – reassurance. Surgical repair is
currently not recommended
• Protection against IE - antibiotic prophylaxis
for dental
visits, tonsillectomy, adenoidectomy, and
other oropharyngeal surgical procedures
, instrumentation of the genitourinary and
lower intestinal tracts

66. Management:
• Large VSDs Medical:
Treatment of chest infection
Control of heart failure
Infective endocarditis prophylaxis
Dental hygiene
Frequent feeding of high calorie formula, correction of
anemia
Non-surgical closure with umbrella device

67. Surgical
• Repair of defect under open heart surgery
• Clamshell-type catheter occlusion -closing
apical muscular VSDs.
• Transcatheter device closure - trabecular
(muscular) and perimembranous VSDs

68. Indications of surgery:
• Large defects- if CHF not responding to
medical management (within first 6 months of
life)
• After 1 year of age, significant LR
shunt, Qp: Qs ratio at least 2:1 without pul
HTN
• Supracristal VSD of any size because of the
high risk of aortic valve regurgitation

69. Contraindication of surgery
1. Severe pulmonary vascular disease
2.Muscular septum VSDs , particularly apical
defects and multiple (Swiss cheese–type)

70. Outcomes
• Excellent, and complications (eg, residual
ventricular shunts) are rare.
• Post surgery - size of the heart decreases to
normal , thrills and murmurs abolished, and
pulmonary artery hypertension
• Catch-up growth-over the next 1-2 years
• In some cases- systolic ejection murmurs of
low intensity may persist for months.

71. Natural history
• Depends on the size of the defect
• Small VSD – Spontaneous closure( 30-50%)
during 1st yr of life (membranous & muscular
defects)
• Small muscular VSDs are more likely to close
80% than membranous VSDs 35%
• The vast majority 45% close by age 4 years

72. Natural history
• Spontaneous closure has been reported in
adults
• Spontaneous closure of a perimembranous
VSD (from tricuspid leaflet tissue apposition)
or of a small muscular VSD during adulthood
is uncommon (<10%)

73. Mod to Large VSDs
• Less commonly close spontaneously
• CHF develops in large VSDs after 8 weeks of
age
• Repeated chest infection ,FTT
• IE –independent of VSD size – rare in < 2yrs
.risk is 2% above 2 yrs

74. Natural History:
• Pulmonary hypertension →pulmonary
vascular disease (Eisenmenger syndrome
• Aortic valve regurgitation - the greatest risk
supracristal VSD

75. Thank you
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