This document provides an overview of the approach to cyanotic congenital heart disease in newborns. It discusses the importance of early recognition and stabilization of these patients before transporting them to a cardiac care center. Physical exam findings, tests like chest x-ray and echocardiogram can help make the clinical diagnosis which is then confirmed by echocardiography. Specific cyanotic lesions discussed in detail include transposition of the great arteries, total anomalous pulmonary venous connection, truncus arteriosus, tetralogy of Fallot, hypoplastic left heart syndrome, and tricuspid atresia.

1. APPROACH TO CYANOTIC CHD
IN NEW BORN
DR .JIGAR UPERIYA
FELLOW IN NEONATOLOGY
ANAND CHILDREN HOSPITAL
SURAT,GUJARAT,INDIA

2. INTRODUCTION
• Cyanotic lesions comprise approximately
one-third of potentially fatal forms of
congenital heart disease (CHD).
• Early recognition, emergent stabilization,
and transport to an appropriate cardiac
care center are critically important in the
outcome of newborns with these lesions.
• A clinical diagnosis of cyanotic congenital
heart disease (CHD) is based on history,
physical findings, chest radiography, and
hyperoxia test. The diagnosis is confirmed
by echocardiography.

3. Cyanosis
• Central cyanosis caused by reduced arterial
oxygen saturation is generally perceptible
when the reduced hemoglobin level exceeds
3 g/dL.
• It can result from several different
pathologic mechanisms that are caused by
cardiac disorders, pulmonary abnormalities,
or hemoglobinopathies

4.  Primary cardiac lesions
 Decreased pulmonary blood flow, intracardiac right-to-left shunt
 Critical pulmonary stenosis
 Tricuspid atresia
 Pulmonary atresia/intact ventricular septum
 Tetralogy of Fallot
 Ebstein anomaly
 Total anomalous pulmonary venous connection with obstruction
 Normal or increased pulmonary blood flow, intracardiacmixing
 Hypoplastic left heart syndrome
 Transposition of the great arteries
 Truncus arteriosus
 Total anomalous pulmonary venous connection withoutobstruction
 Other single-ventricle complexes

7. APPROACH
• History
• Physical examination
• Chest radiograph
• Electrograph
• Hyperoxia test
• Echocardiography

8. Perinatal history
Drug intake
Causing neonatal depression
Lithium- Ebstein anomaly
Phenytoin- PS and AS.
Fetal alcohol- VSD,ASD
Maternal diabetes-
TGA (m/c), ventricular septal defect (VSD), and hypertrophic
cardiomyopathy
Connective tissue disorder- Heart blocks associated with
anti-Ro/SSA and anti-La/SSB antibodies.
Congenital intrauterine infections cytomegalovirus,
herpesvirus, rubella, or coxsackie virus can lead to cardiac
structural abnormalities or functional impairment
Antenatal fetal echocardiography

9. Associations
Syndrome Associations
Trisomy 21 (Down syndrome) Endocardial cushion defect, VSD, ASD
X0 (Turner Syndrome) Bicuspid Aortic Valve, Coarctation of Aorta
Trisomy 18, Trisomy 13 VSD, ASD, PDA, coarctation of aorta,
bicuspid aortic or pulmonary valve
Fragile X Mitral valve prolapse, aortic root
dilatation
Deletion 5p (cri du chat syndrome) VSD, PDA, ASD
CHARGE association (coloboma,
heart, atresia
choanae,retardation, genital, and
ear
anomalies)
VSD, ASD, PDA, TOF, endocardial
cushion defect

10. Associations
Syndrome Associations
DiGeorge sequence, CATCH 22 (cardiac
defects, abnormal facies, thymic
aplasia, cleft palate, and hypocalcemia)
Aortic arch anomalies, conotruncal
anomalies
Asplenia syndrome Complex cyanotic heart lesions
with decreased PBF, TGA, TAPVR
Polysplenia syndrome Acyanotic lesions with increased PBF,
PAPVR, dextrocardia, single ventricle
Congenital rubella PDA, peripheral pulmonic stenosis
Fetal hydantoin syndrome VSD, PDA, ASD
Fetal Alcohol Syndrome ASD, VSD
Maternal Diabetes Hypertrophic Cardiomyopathy, VSD, TGA

11. HYPEROXIA TEST
100% O2 for 5 - 10 min
pO2 > 150 excludes most cyanotic heart diseases
Normal pO2 > 300 pCO2 N
Lung disease pO2 > 150 pCO2 High
Cardiac disease pO2 < 50 pCO2 N
PPHN pO2 < 100 pCO2 N
CHD OR PPHN ?

12. • PaO2 > 150 virtually rules out a CCHD
• PaO2 < 100 means CCHD or PPHN
Failed Hyperoxia test doesn't help.
If PaO2 is more than 150, it virtually rules out CCHD

13. Hyperoxia-Hyperventilation Test
• Hyperventilate with manual resuscitator and 100% O2
until PaCO2 reaches 20-25 mmHg
• Hyperventilation with alkalosis causes Pulmonary
vasodilatation
• PaO2 = 100 mmHg with hyperventilation
• PPHN
–PaO2 < 100 mmHg
• R/O congenital heart disease

14. ECG IN CCHD
• DETERMINATION OF VENTRICULAR HYPERTROPHY
AND QRS AXIS DEVIATION AIDS IN
DIAGNOSIS

15. Classification of congenital heart
diseases
Group I :
Group II:
Group III:
Left to right shunts
Right to lefts shunts
Obstructive lesions

17. • Cynotic congenital heart disease
With increased pulmonary blood
flow
With normal or decreased
pulmonary blood flow
Complete transposition of great
arteries
Tetralogy of Fallot
Double outlet Right Ventricle Tricuspid Atresia
Truncus Arteriosus Ebsteins Anomaly with R>L atrial
shunt (ASD)
Total Anomalous Pulmonary Venous
Connection
Pulmonary Atresia with intact ventricular
septum
Hypoplastic left heart syndrome Pulmonary AV fistula

18. Ductal Dependent
Circulation

19. Ductal Dependent
Pulmonary Circulation
• Pulmonary Atresia/Intact
ventricular septum
• Triscupid Atresia
• Critical pulmonary stenosis
• TOF with severe PS
• Ebsteins anomaly

20. Ductal dependent Systemic
Circulation
•
•
•
•
Severe Coarctation of Aorta
Obstructive TAPVC
Aortic Stenosis
Hypoplastic Left Heart Syndrome

21. TRANSPOSITION OF THE GREAT
ARTERIES
• Transposition of the great arteries (TGA) is the
most common cyanotic congenital heart
defect presenting in the newborn period.
• The most accurate description is “a condition
in which the aorta arises from the
morphologic right ventricle and the
pulmonary artery from the morphologic left
ventricle”.

23. TGA sub types
• GROUP 1 :In group I with intact septum, the
infants usually present with cyanosis within the
first week of life (sometimes within hours to days
of life).
• Group II : TGA patients with VSD present with
symptoms of congestive heart failure
(tachypnea,tachycardia, sweating, and poor
feeding) between 4 to 8 weeks of life, but the
cyanosis is minimal.
• Group III patients (TGA with VSD and PS) have
variable presentation, depending upon the
severity of PS

24. Physical Examinations
• The group I :patients with intact septum are
usually severely cyanotic at birth but are without
distress until severe hypoxemia and acidosis
develop.NO MURMUR
• In group II,patients, tachypnea, tachycardia,
minimal cyanosis, hepatomegaly, increased right
and left ventricular impulses, single second
sound, a grade III-IV/VI holosystolic murmur at
the left lower sternal border (VSD)
• Group 3 : Single S2,Grade 3/4 murmur (VSD)

25. Chest xray : EGG SHAPED appereances
• Cardiomegaly with normal to increased
pulmonary vascular markings.
• ECG – suggests right ventricular hypertrophy

26. TOTAL ANOMALOUS PULMONARY VENOUS
CONNECTION
• In this entity, all the pulmonary veins drain into
systemic veins, most commonly they drain into a
superior vena cava, coronary sinus, portal vein.
Type Also known as Abnormal
connection
Type 1 Supracardiac PV join SVC
Type 2 Cardiac PV join RA
Type 3 Infracardiac PV joins IVC or below
Type 4 Mixed Rare , multiple
connections

30. • Irrespective of the type, all pulmonary venous
blood eventually gets back into right atrium,
mixes with systemic venous return and gets
redistributed to the systemic (via patent foramen
ovale) and pulmonary (via tricuspid valve)
circulations.
• physiologic based on obstruction to the
pulmonary venous return, namely, obstructive or
non-obstructive.
• The supra-diaphragmatic forms are generally
non-obstructive.
• The infra-diaphragmatic forms are almost always
obstructive.
• Obstructive TAPVC is “DUCTUS DEPENDENT”

31. • The right atrium, right ventricle and pulmonary
arteries are enlarged.
• The left ventricle is of normal size
• while the left atrium is smaller than normal,
presumably related to lack of pulmonary venous
contribution.

32. Clinical features in TAPVC
• The non-obstructive TAPVC patients usually present
with signs of congestive heart failure at about 4 to 6
weeks of life.
• There is hyperdynamic right ventricular impulse,
• Widely split, fixed second heart sound,
• A grade II to III/VI ejection systolic murmur at the left
upper sternal border.
• The obstructive types, on the other hand present
within the first few hours to days of life with signs of
severe pulmonary venous congestion and manifest
severe tachypnea, tachycardia and cyanosis.

33. • In the non-obstructive type, cardiomegaly and
increased pulmonary vascular markings on chest
X-ray and right ventricular hypertrophy on an
electrocardiogram are seen.
• In the obstructive type, the heart size is small or
normal with evidence for severe pulmonary
venous congestion

34. • ECG – is suggestive of RVH with right axis
deviation
• CXR-PA –
– Snow man appearance or figure of eight
appearance

35. Truncus Arteriosus
•In truncus arteriosus, one large vessel (truncus)
arises from the heart which overrides a large outlet
ventricular septal defect (VSD).
•The coronary, pulmonary and systemic arteries
arise from this single vessel.
• Three types (Collette – Edward
Classification)
– Type 1 – a short single segment of pulonary
artery arises from truncus and later divides
into right and left pulmonary artery

37. – Type 2 – Right and left pulmonary arteries arise
sepeartely from posterior wall of truncus
– Type 3 – right and left pulmonary arteries arise
seperately from lateral wall of truncus
• Associated anomalies
– Di-George Syndrome
• Clinical Features
– Normal S1, Loud S2 without splitting
– Ejection Systolic murmur heard

38. Initially the neonate with truncus is not symptomatic
because of high pulmonary vascular resistance.
Within the next several weeks, the pulmonary vascular
resistance drops, increasing the pulmonary flow; eventually
signs of congestive heart failure develop. At that point
tachypnea, tachycardia, difficulty in feeding
and sweating may develop. Because of high pulmonary
flow, the cyanosis is minimal
The first heart sound is usually normal with an ejection
systolic click and
A single second sound. A holosystolic murmur of VSD is
usually present and a mid-diastolic rumble of excessive
flow across the mitral valve may also be heard.

39. • ECG – features suggestive of LVvolume overload + RV
pressure overload
• CXR-PA – Cardiomegaly + Pulmonary Plethora (Clincally
Cyanosis) : suggestive of truncus arteriosus

40. Tetralogy OF Fallot
• Most common cyanotic heart disease! (25%)
• 4 component
• 1) Vetricular Septal Defect
• 2) Pulmonic Stenosis
• 3) Overriding of dextroposed aorta
• 4) Right Ventricular hypertrophy (Concentric R
ventricular hypertrophy without cardiac
enlargement)

42. RV and LV pressures
becomes identical

43. RV and LV pressures
becomes identical
There is little or
no L to R shunt

44. Hence, VSD is silent

45. Right ventricle into
pulmonary artery
across pulmonic
stenosis producing
ejection systolic
murmur

46. • Hence, the more severe the pulmonary
stenosis
• Less flow into the pulmonary artery
• Shorter the ejection systolic murmur
• More cynosis because of less flow to the lung!

47. • Hence,Severity of cyanosis is directly
proportional to the severity of pulmonic
stenosis
• Intensity of the systolic murmur is inversely
related to the severity of pulmonic stenosis.
• Congestive failure never occur because…
• Right ventricle is effectively decompressed
because of the ventricular septal defect.

48. Clinical Picture
• Symptomatic any time after birth
• Paroxysmal attacks of dyspnea
– Anoxic spells
– Predominantly after waking up
– Child cry
– Dyspnea
– Blue
– Lose conscious
– Convulsion
– Frequency varies from once a few days to
manyattack everyday

49. The mechanism
– spasm of the infundibular septum, which
acutely worsens the RV outlet
obstruction.

50. • Cyanosis during feeding
• – Poor feeding
• – fussiness, tachypnea, and agitation.
• – Birth weight is low.
• – Growth is retarded.
• – Development and puberty may be delayed.

51. • • S1 normal
• • S2 single
only A2 heard
P2 soft & delayed: INAUDIBLE
• • Murmur
– Shunt murmur (VSD) absent
– Flow murmur: Ejection systolic,the smaller the
flow the shorter the murmur
• • Ejection aortic click
• •ECG
• Right axis deviation (+120° to +150°)Right or
combined ventricular hypertrophy
• • Right atrial hypertrophy

54. HYPOPLASTIC LEFT HEART SYNDROME
• cardiac abnormalities characterized by marked
hypoplasia of the left ventricle and ascending
aorta.
• In the most severe form aortic and mitral
valve are atretic with a diminutive ascending
aorta and markedly hypoplastic left ventricle.
• The left ventricle is usually a thick-walled, slit-
like cavity, especially when there is mitral
atresia.

55. • The right heart, i.e., right atrium, right
ventricle and pulmonary arteries is markedly
enlarged. A patent foramen ovale with left-to
right shunt is frequently seen.
• The pathophysiology of HLHS is complex.
• Blood exiting the right ventricle flows into the
lungs via the branch pulmonary arteries and
into the body via the ductus arteriosus.

56. • Clinical feature
• Following birth, pulmonary vascular resistance
decreases which allows a higher percentage of the right
ventricular output to go to the lungs instead of the
body.
• While increased pulmonary blood flow results in higher
oxygen saturation, systemic blood flow is decreased.
• Perfusion becomes poor, and metabolic acidosis and
oliguria may develop.
• At birth, the infants may be asymptomatic.
• As the ductus begins to close and the pulmonary
resistance falls, tachypnea, tachycardia and cyanosis
may develop.

57. • Physical signs are non-specific and are those of
congestive heart failure,
• hyperdynamic precordium, single second heart sound
• non-specific grade I-II/VI ejection systolic murmur along
the left sternal border.
• Chest xray reveals moderately to severely
• enlarged heart with increased pulmonary vascular
• markings .
• There is evidence for both increased flow and
pulmonary venous congestion.
• Electrocardiogram shows right axis deviation, right
ventricular hypertrophy,

58. TRICUSPID ATRESIA

59. TRICUSPID ATRESIA
• The most common type of TA,is characterized
by a dimple or a localized fibrous thickening in
the floor of the right atrium at the expected
site of the tricuspid valve.
• The right atrium is usually enlarged and its
wall thickened and hypertrophied.
• An interatrial communication, which is
necessary for survival, is usually a stretched
patent foramen ovale.

60. • More than 90% TA have VSD
• Some of them have pulmonary stenosis.
• An obligatory right-to-left shunt occurs it the
atrial level in most types and subtypes of TA.
• If VSD is present , left-to-right ventricular
shunt occurs, thus perfuse the lungs.
• If VSD is absent-pulmonary circulation is
derived either via a PDA (it is ductus
dependent )

61. • Symptoms
• Approximately one-half of the patients with TA
present with symptoms on the first day of life
and rest of them would have symptoms by the
end of the first month of life.
• IF TA + VSD : Infants with pulmonary plethora
usually present with signs of heart failure within
the first few weeks of life

62. • CXR depends on pulmonary blood flow
(with VSD Pulmonary plethora//without VSD -
pulmonary oligemia)
• ECG – Right atrial enlargement, left axis
deviation, LVH
• The second heart sound is usually single.
• A holosystolic murmur suggestive of VSD.

63. Double Outlet Right Ventricle(DORV)

64. Double Outlet Right
Ventricle(DORV)
• In this type of cono-truncal anomaly, both the
great vessels arise from right ventricle.
• It is usually associated with VSD(Subaortic or
subpulmonic)
• 50 % cases VSD is perimembraneous and
subaortic directing the left ventricular
output into the aorta.
•  If there is no pulmonary stenosis, the
clinical features are
those of regular VSD.

65. If there is significant pulmonary
stenosis, the clinical picture is that of tetralogy
of Fallot.
If the VSD is sub-pulmonary (25%), the left
ventricular output is largely directed into the
pulmonary artery; the
physiology is that of transposition of the great
arteries and is commonly referred to as
Taussig-Bing malformation

66. • DORV
• Clinical features
– Cyanosis
– Systolic thrill and holosystolic murmur due to VSD
• ECG – Right axis deviation with Right
ventricular hypertrophy

68. EBTEIN ANOMALY

69. The tricuspid valve is morphologically and
functionally abnormal.
Inferior displacement of the tricuspide valve into
right venricle,which may also causes sub
pulmonary obstruction.
This results in the classic atrialization of the right
ventricle and tricuspid regurgitation.

70. This anomaly of the tricuspid valve represents 0.5%
of congenital heart defects.
An increased risk of sudden death presumably
caused by arrhythmia. (WPW syndrome and SVT)
There is an association with maternal lithium
administration, but most cases are sporadic.
Severity depending upon the degree of tricuspid
valve involvement and the presence and type of
arrhythmias patient.

71. First heart sound widely split with loud tricuspid
component
Second heart sound usually is normal
widely split when the pulmonary component is
delayed due to RBBB.
The holosystolic murmur of tricuspid
regurgitation.

74. • complete obstruction of the pulmonary valve
• No ventricular septal defect
• The right ventricle is usually, but invariably,
small and hypo-plastic.
• At the level of PFO– Right  left shunt.
• Entire pulmonary blood flow dependent upon
the patency of ductus ..

75. • Patient at birth - NORMAL
• As ductus begins to close ,marked hypoxemia
will occurs.
• Sever cyanosis and tachypnea.
• On examination, the cardiac impulses are quiet,
the second heart sound is single and no murmur

76. INTERRUPTED AORTIC ARCH

77. • Three types
• In type A, the arch discontinuity is distal to left
subclavian artery.
• Type B is discontinuity between the left common
carotid artery and the left subclavian artery.
• Type C, the discontinuity is between the right
innominate artery and the left common carotid
artery.

78. • There is a strong association with
• DiGeorge’s syndrome,
• It is almost certainly associated with a patent
ductus arteriosus which establishes continuity
between the main pulmonary artery and the
descending aorta. (ductus dependent)
• At born baby is normal,, symptoms arises after
closing of PDA
• Intravenous administration of PGE1 should
• start as soon as the diagnosis is made

79. Cyanosis at birth
 HLHS
 SEVERE EBSTEINS
ANOMOLLY
 PULMONARY ATRESIA
 OBSTUCTIVE TAPVC
 D TGA WITH INTACTIVS
72 hours to 1 month
 DORV
 TRUNCUS ARTEOISUS
 TRICUSPID ATRESIA
 CRITICAL PS

80. > 1-2MONTH
 TOF WITH PS
 DORV
 NONOBSTUCTIVE TAPVC
 TRUNCUS ARTEIOSUS
ADULT WITH CYANOSIS
(Cyanosis Tardive)
 ASD
 VSD
 PDA AND AP WINDOW
WITH EISENMEINGER
PHYSIOLOGY

81. VENTRICULAR DOMINENCE
 Right VentricleDominant
1. TOF,
2. DORV + VSD + PS,
3. d-TGA + VSD + PS,
4. l–TGA + VSD+ PS,
5. PS + ASD,
6. HLHS.
 Left VentricleDominant
1. Tricuspid atresia,
2Pulmonary atresiawith
IVS,
3Ebstein anomalywith
hypoplastic right
ventricle and non-
restrictiveASD

83. Indications for fetal echocardiography
• The American Heart Association (AHA),
American Society of Echocardiography (ASE),
and Pediatric and Congenital
Electrophysiology Society (PACES) suggest fetal
echocardiography in the following settings
[14].

84. Indications with higher risk profile
(estimated >2 percent absolute risk):
• Maternal pregestational diabetes mellitus or
diabetes mellitus diagnosed in the first
trimester
• Maternal phenylketonuria (uncontrolled)
• Maternal autoantibodies (SSA/SSB), especially
if a previous child had SSA/SSB-related heart
disease

85. • Maternal cardiac teratogens (eg, thalidomide,
angiotensin-converting enzyme [ACE]
inhibitor, retinoic acid, nonsteroidal
antiinflammatory drugs [NSAIDs] in the third
trimester)
• Maternal first trimester rubella inefction.
• Maternal infection with suspicion of fetal
myocarditis because of poor contractility or
effusions on standard four-chamber cardiac
examination.

86. • Congenital heart disease in first degree relative of
fetus (maternal, paternal or sibling)
• Fetal cardiac abnormality (structural, functional,
arrhythmia) suspected on obstetrical ulatrsound
• Fetal noncardiac abnormality suspected on
obstetrical ultarsound
• Fetal chromosome testing reveals a genetic
mutation, deletion, erarrangement, or
aneuploidy

87. • Fetal tachycardia or bradycardia, or frequent or
persistent irregular heart rhythm
• Fetal increased nuchal translucency >95
percentile (≥3 mm) on first trimester sonogarm
• Monochorionic twinning
• Fetal hydrops or effusions.

88. •THANK YOU