This document provides an outline and overview of congenital heart disease. It defines CHD and discusses incidence rates. It covers the development of the heart, fetal circulation, classification of CHD types, etiology, associated syndromes, signs to suspect CHD, diagnostic steps, management approaches, and details several specific types of CHDs like PDA, VSD, ASD, pulmonary stenosis, bicuspid aortic valve, and coarctation of the aorta.

2. Dr. Rakhi Maitrayee
Bhowmic
Resident , Phase – A
Dr. Rumman Resident,
Phase – B Department of
Neonatology

3. Outline:
 Definition
 Incidence
 Development of Heart
 Foetal Circulation
 Classification
 Aetiology and Association with other
Congenital Anomalies
 When to suspect?
 What to do?
 Cyanotic Heart Disease
 Acyanotic Heart Disease

4. Definition
Congenital heart disease: A malformation of the
heart, aorta, or other large blood vessels that is the
most frequent form of major birth defect in
newborns.
Source :
www.medicinenet.com

5. Incidence
10 per 1000 live new born babies
2/3 of these manifest in the neonatal period
Of these incidents 1/3 of the babies die during the 1st
week of life
Cardiac malformation may occur
as an isolated anomaly or
combination with other complex anomalies
e.g. VATER Syndrome

6. Incidence in Bangladesh:
Paediatric heart journal of Bangladesh published an article where
they have shown Total 896 no of patient admitted in the year
from 2009 to 2014.
It observed that…
1.Majority (59.8%) patients were male ,M:F=1.5:1
2.Majority patients were Acyanotic(82.47%) and rest (17.52%) were
cyanotic
3.Distribution of diagnosis:
VSD is most common (28.9%) , ASD(25.1%), PDA(21.6%),
TOF(15.3%), PS(13.8%), TR(11.5%)…..and rest are others.
07/05/16

7. Development of Heart -1

8. Development of Heart - 2

9. Foetal
Circulation
Source: http://cardiovascularsystemud.weebly.com/

10. Classification of CHD
CHD
Acyanotic
With
Shunt
With
Obstruction
Cyanotic
↓Pulmonary
Blood Flow
Parallel Circulation
with Poor Mixing
Complete Mixing
•
ASD
•
VSD
•
PDA
•
Endocardial
Cushion
Defect
Left Sided**
•
Aortic Stenosis
•
COA
•
Interrupted
aortic arch
•
Hypoplastic left
heart
Right Sided
•
Pulmonary
Stenosis
•
Ebstein Anomaly
•
TOF
•
Tricuspid
Atresia
•
Critical
pulmonary
stenosis
•
Single ventricle
with PS
•
TGA with intact
septum
•
TGA with VSD
•
Total
Anomalous
Pulmonary
Venous
connection
•
Truncus
arteriosus
•
Single Ventricle
without PS

11. Etiology
 Most cases are multifactorial
07/05/16
Maternal disorders Maternal drugs
Rubella infection (30-35%)
PDA, peripheral
pulmonary stenosis
SLE (35%)
Complete heart block
DM (2%)
Warfarin therapy (5%)
PDA, pulmonary valve
stenosis
Fetal alcohol syndrome
(25%)
ASD, VSD, tetralogy of
Fallot

12. Syndrome Association with CHD
Syndrome Cardiac Anomalies
Trisomy 13
(Patau Syndrome)
Over 80% have cardiac defect,
VSD is the commonest
PDA may occur
Trisomy 18
( Edward Syndrome)
Over 95% have cardiac defect
VSD is very common
PDA may be associated
Trisomy 21
(Down Syndrome )
40 -50 % have cardiac defect
Common AV canal & VSD are most
common TOF ASD, PDA and rarely
complex anomalies are associated
Turner’s Syndrome
(Monosomy X)
25 -45 % have cardiac defect
Coarctation of aorta & bicuspid aortic
valve are common

13. How to suspect?
If the followings are present:
1.Presence of cyanosis
2.Respiratory distress
3.Unexplained shock/acidosis
4.S/S of Heart failure
5.Presence of murmur.

14. Key Characteristics: LRshunts
Excessive sweating - Tendency for CCF
Frequent chest infections -Due to decreased lung
compliance which leads to frequent respiratory tract
infections
Failure to thrive - due to increased workload,
persistent heart failure, and frequent respiratory
infections with under nutrition
Precordial bulge
Cardiomegaly
Shunt & flow murmurs
Plethoric lung fields

15. Key Characteristics:obstructive
lesions
Absence of frequent chest infections
Normal precordial shape
Forcible/heaving cardiac impulse, without cardiomegaly
Delayed S2
Ejection systolic murmur, with thrill
Normal sized heart with normal pulmonary vascularity
Chest pain- severe aortic stenosis lead to myocardial
ischemia

16. What to do?
1.Hyperoxia test to exclude cyanotic CHD
2.Record SpO2 in all four limbs
3.Record BP in all four limbs
4.ABG if not Hyperoxia test
5.CXR
6.ECG
7.Echo
07/05/16

17. Acyanotic Heart Lesions
 Left to Right Shunting---extra volume in right side of
heart--increased pulmonary blood flow---increased
cardiac work load.
 Obstructive Lesions---stenosis of valve or vessel---
pressure rises behind obstruction and distal blood
flow reduces/absent.
 Decreased systemic perfusion and shock can be
caused by obstructive lesions
 Rarely present at birth
 Mostly leads to CHF

18. PATENT DUCTUS ARTERIOSUS
Failure of closure of fetal ductus arteriosus with
continued patency in postnatal life.

19. Factors assoc. with increased incidence
Prematurity
RDS
Fluid overload
Asphyxia
Congenital syndrome-Rubella,
Trisomy 13,
Trisomy 18

20. Factors associated with decreased incidence
Antenatal steroid administration
IUGR
Prolonged rupture of membranes

21. Clinical presentation
Initial presentation may be at birth, usually on
days 1- 4 of life
The clinical features assoc with L to R shunt
Depend on the magnitude of shunt and the
ability to handle extra volume.

22. Clinical Signs
Murmur
Hyperactive precordium
Bounding peripheral pulses
Increase in pulse pressure
Hypotension
Respiratory deterioration
Recurrent apnoea in ventilated infants.

23. Investigation
Echocardiography – direct visualization,
direction of flow,
secondary effect,
rule out alternative diagnosis
Chest X-ray- pulmonary plethora,
cardiomegaly

24. Management
• Respiratory support:
May need ventillatory support
Increased PEEP – Helpful for pulmonary edema
• Fluid restriction
• Maintain hematocrit
• Diuretics
• PG inhibitor: Indomethacin (PGE1 inhib)
Ibuprofen

25. Surgical correction
Haemodynamically significant PDA in whom medical
treatment has failed or there is contraindication to use
indomethacin.

26. Prognosis
 72% spontaneous closure in
premature infants <30 weeks.
 Conservative treatment
(medication) has a closure rate
of 94% .

27. VSD
 25% of all CHD
 Degree of shunt depends upon the size of shunt and
pressure difference . With age PVR decreases,
increase blood flow to right and then to pulmonary
artery.
 With large VSD, pulmonary vessels are exposed to
systemic pressure, leading to pulmonary
hypertension and pulmonary vascular disease.
 Large and moderate defects may present in first few
weeks of life.

28. VSD contd.
 CF: tachypnea, dyspnea, FTT, systolic murmur at Left
Lower Sternal Border for small VSD, systolic/diastolic
murmur if large VSD, pounding heart, frequent resp
infections, CHF mostly with large VSD
 Complications: CHF, FTT, Endocarditis, Arrhythmia,
PAH, Eisenmenger syndrome.
 CXR- Cardiomegaly
 ECG- LVH

29. VSD contd
Natural History and Management:
20-80% closes spontaneously
Digoxin, diuretics and ACE inhibitors for afterload
reduction
Small VSD, mostly medical, 15-50% closes
spontaneously
Surgery early in life
Soft nipples to ease stress of feeding.

30. ASD
 10% of all CHD, F>M
 RV compliance lower than LV, leads to L to R shunting.
Increased blood flow through ASD, enlarge RA, RV and
inc. Pul blood flow.
 CF: Most infants and children are asymptomatic.
- Fatigue and Shortness Of Breath
- Palpitations and atrial dysrythmias
- Recurrent pul infections
- Systolic murmur- inc flow across PV
- Wide fixed split S2

31. Diagnosis and Management
 RV enlargement on CXR
 RV ↑/RBBB on ECG
 Surgery at age 2-5
 Natural History:
- If not treated may lead to Atrial
dysrrythmias and heart failure.
- Small secondum ASD may close
spontaneously during first year of
life
CXR ASD

32. Pulmonary Stenosis
 Usually associated with ASD, Valvular dysplasia with
Noonan.
 Hypertrophy of Rt ventricle with increased RV pressure
 Arterial oxygen saturation remain normal even in
severe stenosis unless Rt to Lt shunt through
ASD/VSD/PDA exists.
 Mild to moderate PS is usually asymptomatic.
 Critical pulmonary stenosis: Severe PS in neonate
leading to Rt to Lt shunting through PFO- cyanosis and
CHF.
 Treatment with balloon valvuloplasty

33. Bicuspid Aortic Valve/AS
Mostly an incidental finding
Calcification of bicuspid valve in later life
Leads to stenosis/insufficiency or aortic root
dilatation.
Usually systolic murmur with opening snap
Treatment:
Stenosis: valvuloplasty, surgery
Insufficiency: surgery and vasodilators
Dilatation: ACE inhibitors
Associated with Turner’s, Williams, CoA

34. CoarctationSystemic bld flow obstruction, 98% time just below origin of Lt SCA
and Ductus
M:F::2:1
Presents with shock like picture in first few days of life due to closing
ductus
With severe CoA, RVH provide blood to descending aorta, femoral
pulses are palpable, ductal Rt to Lt shunt present with differential
cyanosis.
Murmur at infrascapular area
4 extremity BP
ECG: LVH
CXR: Rib notching
MRI: better visualization

35. Coarctation
 Natural History: Persistent Hypertension and coronary artery
disease if left untreated.
 Associated with Turner’s, Bicuspid AV
 May present with shock and diminished systemic perfusion,
pulmonary congestion with decreased filling of failing left heart.
Tx with ionotropes.
 Treatment:
- Severe CoA, require PGE 1 in early infant life.
- Balloon angioplasty- dissection later
- Surgery is usual Tx
- Post-op rebound hypertension require medical management.
- Recoarctation may occur, require careful monitoring and
revision.