2. Objectives
● Define Critical Congenital Heart Disease (CCHD) incidence
and burden of disease
● Define diagnostic considerations in neonate with cyanosis
● Recognize cyanosis as a sign of CCHD and how to
differenciate with non cardiac problems
● Identify CCHD as a clinician/neonatologist before the
definitive diagnosis by echocardiography could be
performed
● Applying the algorithm :
○ Clinical Approach of the Newborn with Cyanosis
○ Evaluation of CXR of the newborn with Cyanosis
3. INTRODUCTION
● Congenital heart disease (CHD)
○ The most common major birth defect
○ Affecting 1–2% of all live births globally
○ Estimated incidence of 8–10/1000 live births
○ The majority of CHD cases are mild lesions and require no intervention
● Critical Congenital Heart Disease (CCHD)
○ 20–25% of CHD cases are critical
○ Require early intervention or surgery during the first year of life
○ Diagnosis delay of CCHD is associated with significant morbidity and
mortality
○ The overall mortality rate for CCHD ranges from 15 to 25%
Pediatric Cardiology (2018) 39:1389–1396
Cardiovasc J Afr 2013; 24: 141–145
4. ANNUAL BIRTH OF CHILDREN WITH CHD
● The incidence rate of mortality
from CHD was 81 cases per
100,000 live births
● The lethality attributed to critical
congenital heart diseases was
64.7%,
● The proportional mortality ratio
was 12.0%.
● The survival rate at 28 days of life
decreased by almost 70% in
newborns with CHD
Cardiovasc J Afr 2013; 24: 141–145
Pediatr Cardiol. 2018;39(7):1389-1396
Arq Bras Cardiol. 2018; 111(5):674-5
5. < 1 YEAR OLD
Pediatr Cardiol 2021 ;42:1308–1315
11. A physical sign
causing bluish discoloration of the skin
and mucous membrane due to
increased concentration of reduced
hemoglobin to about >3 g/100 mL
in the cutaneous veins/capillaries
CYANOSIS
NeoReviews. 2016;17(10):e598-e604
Indian J of Pediatr. 2015 Nov;82(11):1050-60
Pediatr Ann. 2015;44(2):76-8
12. FACTOR AFFECTING CYANOSIS DETECTION
● Hemoglobin concentration
○ May not be apparent in patients
with anemia
● Skin pigmentation
○ difficult to appreciate in infants
with darkly pigmented skin
● The degree of desaturation required
to produce cyanosis varies
considerably according to Hb level
NeoReviews. 2016;17(10):e598-e604
Indian J of Pediatr. 2015 Nov;82(11):1050-60
Weisman LE editor.UpToDate. Wilkie L: UpTodate; 2019
13. FACTOR AFFECTING CYANOSIS DETECTION
● Oxygen dissociation curve, affected
by
○ Alkalosis, acidosis
○ Cold temperature
○ Low levels of 2,3-
diphosphoglycerate
○ High levels of fetal hemoglobin
NeoReviews. 2016;17(10):e598-e604
Indian J of Pediatr. 2015 Nov;82(11):1050-60
Weisman LE editor.UpToDate. Wilkie L: UpTodate; 2019
14. Physiological
Mechanisms of
Cyanosis
Pediatr Ann 2015;44(2):76-80
Cyanosis
Pulmonary
Venous
Desaturation
Decreased
Hemoglobin
Affinity
Transposition
Physiology
R-L
shunt
RESPIRATORY CAUSES
CARDIAC CAUSES
CENTRAL
HYPOVENTILATION
HEMOGLOBIN
DISORDER
18. CYANOSIS
PERIPHERAL/ ACROCYANOSIS
● Blue color of the hands and feet, while
the rest of the body remains
pinkish and well perfused
● Normal SaO2 and Normal PaO2
● Represent venous congestion caused
by immature control of vascular tone
in neonates
● Local vasoconstriction and sluggish
circulation in conditions like
hypothermia or cold stress, sepsis,
hypoglycaemia
CENTRAL CYANOSIS
● Affects the entire body, most evident in
the mucous membranes and tongue.
● Low SaO2 and Low PaO2
● Ussualy has serious underlying condition
● Cardiac, Pulmonary,CNS causes or
methemoglobinemia
● Requires immediate evaluation and
prompt treatment
Curr Opin in Pediatr. 2019 Apr;31(2):274-83
Pediatr Ann. 2015;44(2):7
Indian J of Pediatr. 2015 Nov;82(11):1050-60
19. Differential Cyanosis
• A difference in SaO2 of at least
5% between preductal (right arm
and post ductal (legs)
• Preductal SaO2 > Postductal SaO2
• The upper part of the body
remains pink and lower part of
the body remains cyanotic
• Blood goes from the pulmonary
artery to the descending aorta
through the PDA (right-to-left
shunt)
• Ex: Critical Coartation of the
Aorta, PPHN
Cyanosis in a Newborn Immediately after Birth.
NEJM Evid 2022; 1 (2)
22. DUCTAL DEPENDENT CCHD
Emerg Med Clin North Am. 2015;33(3):501-518
GREY BABY SHOCK
• Left Obstructive
Ductal Dependent
Lesion
• Systemic Blood Flow
Obstruction
• Decrease Blood Flow
to The Body
• ASIDOSIS & SHOCK
BLUE BABY CYANOTIC
• Right Obstructive
Ductal Dependent
Lesion
• Pulmonary Blood
Flow Obstruction
• Decrease Blood Flow
to The Body
• CYANOSIS & HIPOXIA
23. Korean J Pediatr 2010;53(6):669-679
CARDIA C CYANOSIS VS PULMON
Cardiac Cyanosis
ARY CYANOSIS
Pulmonary Cyanosis
Respirations Relatively comfortable at rest Tachypnea, distress, retraction
Crying or efforts Cyanosis may worsen Cyanosis may improve
Chest auscultation Cardiac murmur Rale, crackle, wheezing
Chest radiography
⌲ Cardiac silhouette Abnormal position or shape, cardiomegaly* Normal, obliterated cardiac margin⍏
⌲ Lung fields Normal, decreased vascularity, pulmonary
vascular congestion*
Ground-glass appearance, pneumonia,
atelectasis, pneumothorax, etc.
EKG Abnormal rhythm or axis Normal
pCO2 Normal or low Usually increased
Response to 100% O2 No or not found Usually profound
* In cardiac lesions with cyanosis and increased pulmonary blood flow
⍏ may be present in obstructive total anomalous pulmonary venous return
Abbreviation: pCO2 arterial blood carbon-dioxide tension
Korean J Pediatr 2010;53(6):669-67
24.
25. Cyanotic Heart Disease PPHN
SpO2 Same upper and lower limb Upper limb higher than lower limb
Clinical Condition Stable (No need intubation) Unstable, Fluctuating BP
CXR Oligaemic Ground glass appearance
RVOT PS or not seen Unobstructed RVOT
CYANOTIC
HEART DISEASE
VS
PPHN
27. Underlying
Pathology
Interpretation
PaO2
Method Exposed to 100% FiO2 5-10 minutes
Increase >300
mmHg
Normal
100<PaO2<150
mmHg
Cardiac Mixing
Lesions with
increase PBF
TAPVR without obstruction,
Truncus arteriosus, HLHS
PPHN
<100 mmHg
TGA
Cardiac Mixing
Lesions with
restrictivePBF
Pulmonary atresia/stenosis
Tricuspid atresia with
PA/PS, TOF
HYPEROXIA TEST
NeoReviews. 2016;17(10):e598-e604
Journal of Neonatology 2021;35(1): 29–37
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J Biomed Translat Res 2020 Dec 15;5(1):107–16
28. HYPEROXIA-HYPERVENTILATION TEST
Interpretation
BGA
Method
Mechanical Ventilation
With FiO2 100%
RR 100-150 bpm
PaO2 increase
Without
Hyperventilation
Pulmonary
Parenchymal
Disease
PaO2 increase at
critical PCO2
often to < 25
mmHg
PPHN
No increase in
PaO2 despite
hyperventilation
CCHD
NeoReviews. 2016;17(10):e598-e604
Journal of Neonatology 2021;35(1): 29–37
Indian J of Pediatr. 2015 Nov;82(11):1050-60
J Biomed Translat Res 2020 Dec 15;5(1):107–16
29. HYPEROXIA TEST INTERPRETATION
a-D-transposition of the great arteries (D-TGA) with intact
ventricular septum.
b-Tricuspid atresia with pulmonary stenosis or atresia: pulmonary
atresia or critical pulmonary stenosis with intact ventricular
septum: or tetralogy of Fallot.
c-Truncus, total anomalous pulmonary venous return, single
ventricle, hypoplastic left heart,
D-TGA with ventricular septal defect, tricuspid atresia without
pulmonary stenosis
30. Physical Examination in Neonates with CCHD
1. Evaluate Airway, Breathing and Circulation
2. Presence and pattern of respiratory distress
3. Dysmorphism or any other associated anomaly
4. Evidence of heart failure—poor weight gain tachycardia, tachypnea
5. Abdomen for liver sidedness (to assess situs) and hepatomegaly
6.Examine pulse, capillary refill, SpO2 and blood pressure in both pre
and post-ductal location
7. Heart rate and rhythm
8.Precordial impulse to assess sidedness of the heart, heart sounds,
mainly S2
9. Murmur and thrill—timing, site, intensity and radiation
Arch Dis Child Fetal Neonatal :2008;93:F33–5
Indian J Ped 2015 ;82 : 2-11
31. Physical Findings in Specific Cardiac Malformation
LV type of apex beat Tricuspid atresia
Single ventricle of LV morphology
DORV with restrictive VSD
Pulsation in 2nd left intercostal space due to left and anterior position of
aorta
ccTGA
Pansystolic murmur of AV valve regurgitation AV septal defect
ccTGA
Early diastolic murmur at LUSB Truncus arteriosus with regurgitation
Sea saw (systolo-diastolic) murmur at LUSB TOF with absent pulmonary valve
Complete heart block ccTGA
Heterotaxy Syndrome
AV atrioventricular; ccTGA congenitally corrected transposition of great arteries; DORV double outlet right ventricle; LUSB
left upper sternal border; LV left ventricle; TOF Tetralogy of Fallot; VSD ventricular septal defect
Indian J Ped 2015 ;82 : 2-11
32. Typical
ECG Findings
ECG Findings in
Likely CCHD
Various CCHD
Remarks
RAD with RVH TOF
ccTGA with VSD with PS
Critical PS with IVS
TGA with IVS
Early and sudden R to S transition from V1 to V2 CHB,
absent septal q in V5-6
RV strain (ST-T changes in V1-3, II, III, aVF)
LAD AVSD with PS
Tricuspid atresia
RVH
LVH
Monomorphic QRS in V1-6 Single ventricle with PS
IRBBB Ebstein’s anomaly Polyphasic QRS complexes
AVSD atrioventricular septal defect; ccTGA congenitally corrected transposition of great arteries; CHB complete heart block;
IRBBB incomplete right bundle branch block; IVS intact ventricular septum; LAD left axis deviation; LVH left ventricular
hypertrophy; PDA patent ductus arteriosus; PS pulmonary stenosis; RAD right axis deviation; RV right ventricle; RVH right
ventricular hypertrophy; TGA transposition of great arteries; LV left ventricle; TOF Tetralogy of Fallot; VSD ventricular septal
defect; CCHD Cyanotic Congenital Heart Disease
Indian J Ped 2015 ;82 : 2-11
34. ● Blinded retrospective review of chest
radiographs from 281 patients (<12 years) by
five pediatric radiologists from three institution
● The average accuracy was 78% (range of
72% to 82%)
● CXR alone is not diagnostic of specific
cardiac lesion but useful in providing
supplemental information
● In limited facilities it could be put into some
cardiac abnormalities consideration
Pediatr Radiol 2006 Jul;36(7):677-81
35. Transposition of
The Great Arteri
Egg on a string
N
Indian J of Pediatr. 2015 Nov;82(11):1050-60
the main pulmonary artery and
the aorta – are switched in position, or
“transposed.
36. TAPVR
Classic Snowman Sign
Or
Figure of Eight Sign
Indian J of Pediatr. 2015 Nov;82(11):1050-60
TOTAL ANOMALOUS VENOUS RETURN
Oxygen-rich blood does not return from the
lungs to the left atrium
but to the right side of the heart
37. TOF
“Boot
Shape”
Indian J of Pediatr. 2015 Nov;82(11):1050-60
TETRALOGY OF FALLOT
Four defects are a ventricular septal
defect (VSD), pulmonary stenosis, a
misplaced aorta and a thickened right
ventricular wall (right ventricular
hypertrophy)
38. Coarctation of
The Aorta
Indian J of Pediatr. 2015 Nov;82(11):1050-60
Coarctation of the aorta is a
narrowing of the aorta, most
commonly occurring just beyond
the left subclavian artery
39. Ebstein Anomaly
• Massive Cardiomegaly with
decrease Pulmonary flow
• Enlargement of the right atrium
• Hipoplasia of pulmonary trunk
Box -Shaped Heart
Indian J of Pediatr. 2015 Nov;82(11):1050-60
40. Algorithm
for CXR
Evaluation
Indian J of Pediatr. 2015 Nov;82(11):1050-60
Heart position and abdominal situs
Heart size and contour
Pulmonary blood flow and PVH
Lung parenchyma
Cardiomegaly No cardiomegaly
Increased PBF
TGA
Admixture physiology with no PS
Normal or reduced PBF
Ebstein’s anomaly
Normal PBF
Single atrium
Anomalous systemic venous drainage to LA
Reduced PBF
TOF physiology
VS with IVS
PVH
Obstructed TAPVC
HLHS with restrictive ASD
. ASD atrial septal defect; HLHS Hypoplastic left heart syndrome; IVS Intact ventricular septum;
PBF Pulmonary blood flow; PS Pulmonary stenosis; PVH Pulmonary venous hypertension;
TAPVC Total anomalous pulmonary venous connection; TGA Transposition of great arteries;
TOF Tetralogy of Fallot
41. SIMPLE CARDIAC ULTRASOUND TIPS
FOUR
CHAMBER
VIEW
SINGLE
VENTRICLE
CYANOSED
PROSTIN
DEPENDENT
NOT CYANOSED
NOT PROSTIN
DEPENDENT
BIVENTRICLE
RVOT
OBSTRUCTION
PROSTIN
DEPENDENT
EBSTEIN AND
SEVERELY
CYANOSED
PROSTIN
DEPENDENT
42. Algorithm
Neonate
with
Cyanosis
Indian J of Pediatr. 2015 Nov;82(11):1050-60
L i m i t e d t o l i p s a n d e x t r e m i t i e s
N o r m a l S p O 2
A l l m u c o s a l a n d c u t a n e o u s s u r f a c e s
R e d u c e d S p O 2
A c r o c y a n o s is C e n t r a l C y a n o s i s
D i f f e r e n t i a l c y a n o s i s :
L o w e r l i m b S p O 2 < U p p e r l i m b
R e v e r s e d i f f e r e n t i a l c y a n o s i s :
U p p e r l i m b S p O 2 < l o w e r l i m b
C e n t r a l C y a n o s i s
N e o n a t e w i t h c y a n o s i s
A s s e s t h e e x t e n d o f c y a n o s i s
P u l s e o x i m e t r y
S p O 2 i n r i g h t u p p e r * a n d l o w e r l i m b = s a m e
Y e s N o
M i l d c y a n o s i s
T a c h y p n e a , d i s t r e s s w i t h r e t r a c t i o n s
I m p r o v e m e n t i n S p O 2 w i t h o x y g e n
A b n o r m a l r e s p i r a t o r y e x a m i n a t i o n
I n c r e a s e P a C O 2 i n A B G
C X R
L u n g c o l l a p s e
A r e a s o f h y p e r i n fl a t i o n , p n e u m o t h o r a x
L u n g h y p o p l a s i a
C y a n o s i s v a r i a b l e , m o s t l y s e v e r e
T a c h y p n e a w i t h n o d i s t r e s s a n d r e t r a c t i o n s
N o / m i n i m a l c h a n g e i n S p O 2 w i t h o x y g e n
A b n o r m a l c a r d i a c e x a m i n a t i o n
N o r m a l P a C O 2 i n A B G
C X R
N o r m a l l u n g p a r e n c h y m a
C a r d i o m e g a l y , p l e t h o r a a n d / o r P V H
P u l m o n a r y o l i g e m i a
A b n o r m a l E C G
C l i n i c a l e v a l u a t i o n
R e s p i r a t o r y p a t h o l o g y C y a n o t i c C H D
S u s p e c t c r i t i c a l C H D
S t a r t P G E 1 i n f u s i o n * *
U r g e n t r e f e r r a l t o p e d i a t r i c c a r d i o l o g i s t
H y p o t e n s i o n
S e v e r e h y p o x i a , a c i d o s i s
G r o u n d g l a s s o n C X R
44. D i f f e r e n t i a l c y a n o s i s :
L o w e r l i m b S p O 2 < U p p e r l i m b
R e v e r s e d i f f e r e n t i a l c y a n o s i s :
U p p e r l i m b S p O 2 < l o w e r l i m b
C e n t r a l C y a n o s i s
S p O 2 i n r i g h t u p p e r * a n d l o w e r l i m b = s a m e
Ye s N o
M i l d c y a n o s i s
T a c h y p n e a , d i s t r e s s w i t h r e t r a c t i o n s
I m p r o v e m e n t i n S p O 2 w i t h o x y g e n
A b n o r m a l r e s p i r a t o r y e x a m i n a t i o n
I n c r e a s e P a C O 2 i n A B G
C X R
L u n g c o l l a p s e
A r e a s o f h y p e r i n fl a t i o n , p n e u m o t h o r a x
L u n g h y p o p l a s i a
C y a n o s i s v a r i a b l e , m o s t l y s e v e r e
T a c h y p n e a w i t h n o d i s t r e s s a n d r e t r a c t i o n s
N o / m i n i m a l c h a n g e i n S p O 2 w i t h o x y g e n
A b n o r m a l c a r d i a c e x a m i n a t i o n
N o r m a l P a C O 2 i n A B G
C X R
N o r m a l l u n g p a r e n c h y m a
C a r d i o m e g a l y , p l e t h o r a a n d / o r P V H
P u l m o n a r y o l i g e m i a
A b n o r m a l E C G
C l i n i c a l e v a l u a t i o n
R e s p i r a t o r y p a t h o l o g y C y a n o t i c C H D
H y p o t e n s i o n
S e v e r e h y p o x i a , a c i d o s i s
G r o u n d g l a s s o n C X R
S u s p e c t c r i t i c al C H D
S t a r t P G E 1 i n f u s i o n * *
U r g e n t r e f e r r a l t o p e d i a t r i c c a r d i o l o g i s t
Algorithm
Neonate
with Cyanosis
II
45. Take Home Messages
● Congenital heart disease is the most common major
birth defect with 20-25% of them are critical and need
early interventions or even surgeries (CCHD)
● Delayed diagnosis of CCHD is associated with significant
patient’s morbidity and mortality
● Recognizing early symptoms of CCHD in the limited
facilities will reduce diagnostic gap of CCHD, hasten the
definitive diagnostic by echocardiography hence will
improve the outcome and survival of CCHD patients
47. Differential Cyanosis
in Critical Coarctatio Aorta
● A severe narrowing of the descending aorta
● Typically is at the isthmus, the segment just
distal to the left subclavian artery.
● Blood flow to the descending aorta is
dependent on a PDA
● When the PDA closes, neonates with critical
coarctation develop heart failure and/or shock.
● On physical examination, femoral pulses are
weak or absent.
Curr Opin in Pediatr. 2019 Apr;31(2):274-83
J Biomed Translat Res 2020 Dec 15;5(1):107–16
Fulton DR, Weisman LE. UpToDate. Armsby C: UpTodate; 2015
48. Reverse Differential Cyanosis
• Preductal SaO2 (right arm) ia at least 5%
lower than Postductal SaO2
• The upper part of the body remains
cyanotic while the lower part of the body
remains pink
• Oxygenated blood goes from pulmonary
artery to Aorta via PDA
• Ex :
• TGA with PH and shunt through PDA,
• Total anomalous pulmonary venous
drainage above the diaphragm with shunt
through PDA (higher oxygen content in the
right ventricular blood)
Cyanosis in a Newborn Immediately after Birth.
NEJM Evid 2022; 1 (2
49. Right Obstructive Ductal Dependent Lesions
● Structural obstruction of blood flow to
the lungs with a septal defect and
resulting shunt
● PDA shunt provides supplemental
oxygenated systemic blood supply
● With PDA closure, decrease pulmonary
blood flow, resulting cyanosis and
hypoxia
● Ex :
NORMAL
HEART
RIGHT
OBSTRUCTIVE
LESION
○ Tetralogy of Fallot
○ Truncus Arteriosus
○ Transposition of the Great Vessels
○ Tricuspid Atresia
○ TAPVR
Curr Opin in Pediatr. 2019 Apr;31(2):274-83
J Biomed Translat Res. 2020 Dec 15;5(1):107–16
Fulton DR, Weisman LE. UpToDate. Armsby C: UpTodate; 2015
50. Left Obstructive Ductal Dependent Lesions
● Systemic blood flow obstruction
● Decrease blood flow to the lower body
● Minimal desaturation if there is ASD and
PDA
● Normal preductal saturation if there is
sufficient flow across aortic valve to
supply the right subclavian artery fully
● When PDA closed,systemic circulation is
compromised, resulting in poor
peripheral perfusion (ie, cardiogenic
shock) and cyanosis
● Ex : HLHS, Critical Aortic Stenosis
NORMAL
HEART
RIGHT
OBSTRUCTIVE
LESION
Curr Opin in Pediatr. 2019 Apr;31(2):274-83
J Biomed Translat Res. 2020 Dec 15;5(1):107–16
Fulton DR, Weisman LE. UpToDate. Armsby C: UpTodate; 2015
