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Practical approach to
Cyanotic Congenital Heart
Disease
Diagnosing Heart Disease
• Suspecting it
• If you are waiting for the child to
present to you with cyanosis, you are
likely to miss majority of the cases
• History and clinical clues
• Role of Chest X Ray, ECG,
Echocardiography
CHD: Traditional Clinical
Diagnostic Approach
pulmonary
blood flow
Cyanotic
 pulmonary
blood flow
PS PAH
Acyanotic
L-R Shunts Obstructive
lesions
Miscellaneous
CHD: Diagnostic approach
• Age oriented approach
– Neonates
– Early and mid infancy
– Late infancy and older children
• ‘Physiological’ diagnosis rather than
anatomical diagnosis
– Functional effects of the heart disease: Cyanosis,
Pulmonary blood flow, CCF, Shock
– Assessing the need for early intervention
Hemodynamic Classification
• Duct dependent lesions
– Duct dependent pulmonary circulation
– Duct dependent systemic circulation
• Left to right shunts (Pre and Post tricuspid)
• Tetralogy of Fallot physiology
• Admixture physiology
• Miscellaneous
– Valvular diseases
– Obstructive lesions
– Cardiomyopathies
Neonates
• Duct dependent lesions
– Duct dependent pulmonary circulation
– Duct dependent systemic circulation
• Transposition of great arteries
• Total anomalous PV drainage (Obstructed)
• Admixture lesions
• Large PDA (Preterms), AP Window, Trucus
arteriosus
Duct Dependent Pulmonary Circulation
• Discontinuity between pulmonary ventricle and pulmonary artery
• Typical presentation: 24-72 hours .
Pulmonary Atresia with intact IVS
Ebstein’s Anomaly
( Functional Pulmonary Atresia)
Clinical features
• Development of cyanosis, rapid
worsening
• Single S2
• Unremarkable otherwise (no murmur)
• Sick looking and acidotic
• Misdiagnosed as sepsis commonly
Detection of cyanosis
• Cyanosis indicates presence of R-L shunt
• Can be easily missed: Poor lighting, dark skin
and anemia
• Absence of h/o cyanosis does not r/o cyanotic
heart disease
• At times cyanosis is evident only during
activity or crying
Detection of cyanosis
• Clinical cyanosis is apparent
only if the SO2 is <85%
• Any value <95% is abnormal
after 48 hours of birth
• Pulse oximetry: invaluable tool
to aid clinical diagnosis (detects
subclinical cyanosis)
Work up of the Cyanotic Newborn:
The Hyperoxia Test
100% O2 via hood
~10 min..
PO2
< 150 mmHg
CHD likely
PO2
>200mmHg,
CHD
unlikely
150 to
200

< 70
mmHg
CHD very
likely
Duct dependent systemic circulation
• Obstruction to left
heart outflow:
– Aortic atresia,
– Severe coarctation
– Hypoplastic left heart
syndrome
• Circulation maintained
by flow through the
PDA (R-L shunt)
• When PDA constricts,
systemic perfusion is
compromised
• Present with shock like state
• Pulse disparity, SO2 disparity (Difference of >5%)
• Single S2, no murmur
Signs of Low Cardiac Output
• Poor perfusion, bradycardia, hypotension
• Acidosis
• Cyanosis
• Arrhythmias
• Altered sensorium
• Temperature instability
• Renal and Liver dysfunction
Clinical clue
• Femoral pulsations: often the only
clue to the presence of coarctation;
Careful palpation and comparison with
brachials
• Ideally four limb BP measurement
should be made (automated NIBP
preferred )
SHOCK WITH DIFFERENTIAL CYANOSIS: EXCLUDE CHD
Mode of presentation
A relatively well child presenting dramatically
between 2 days to 1 week of life strongly
suggests duct dependent lesion
Transposition of great arteries
Transposition of Great Arteries
• Two parallel
circuits
• Early presentation
with intact IVS
• Large ASD or VSD
will delay the
presentation
• Single S2
• Short ESM
Obstructed TAPVC
• Pathway from PVs to LA
obstructed
• Results in Severe PVH
and PAH
• Variable presentation
depending of severity of
obstruction
• S2 variable
• ESM at PA
RA
RV
LV
LA
PA
Ao
Inn
Obstructed
TAPVC
• If there is a murmur
• It there is cardiomegaly in the CXR
• If there is pulse discrepancy
– We all know that ….
– We already knew that …..
So… when to suspect heart disease?
So… when to suspect heart disease?
• Any child who does not fit clearly to
your initial clinical diagnosis
– Think if this could be heart disease and
look out for some more clues
– Read the CXR again, take an ECG
– When in doubt, do a simple echo: A4CV
• Any child with significant desaturation
(assuming that we are doing pulse oxymetry in every child. If
we have not started this practice, we should start it today)
– Think if this could be heart disease and
look out for some more clues
– Read the CXR again, take an ECG
– Don’t hesitate to ask for an echo
So… when to suspect heart disease?
Screening
Clinical Examination and Pulse oximetry
Pre-discharge
Repeat 6-8 weeks
Any one
abnormal
Refer for echo and pediatric cardiology
evaluation
Role of Chest X Ray
Role of Chest x Ray
 Situs
 Cardiac position
 Chamber enlargement
 Arch sidedness
 Lung vasculature
 Lung parenchyma
 Bony cage and diaphragm
Situs Solitus
Bronchial
situs
Visceral
situs
Arch
Situs solitus, dextrocardia
Stomach Liver
Shorter
More Horiz.
Bronchus
Situs Inversus
Situs Ambiguous, mesocardia
Right arch
Low SO2, intubated at admn
Decreased PBF
Ground-
glass Haze
Obstructed TAPVC
Low SO2, intubated, no improvement
Obstructed TAPVC
8 years old; minimally symptomatic
Supracardiac TAPVC
Left
vertical
vein
Dilated
SVC
TAPVC @ 7 days
Transposition of Great Arteries
No ‘egg’, had TGA
‘egg’ appearance, had
Truncus arteriosus
Neonatal Ebstein’s anomaly
Role of ECG
• It is normal in many of the serious CHD.
Hence, a normal ECG does not rule out a
heart disease
• An abnormal ECG, almost always points
towards a serious heart disease
• Answer three questions:
– Is the QRS axis rightward
– Is there RV dominance
– Are there q waves in II, III and aVF
QRS axis… simplified
• Look at lead I and aVF
• Calculate the mean QRS voltage
I
aVF
+
+
-
-
I
aVF
+
+
-
-
I
aVF
+
+
-
-
I
aVF
+
+
-
-
3 weeks to 3 months
‘Physiological / Functional’ approach
Answer two questions
• Is there cyanosis / systemic
desaturation?
• Is the pulmonary blood flow is
normal/decreased or increased?
Large ASD vs large VSD
• Volume overload
• RV vs LV
• Pressure overload
Assessment of PBF
History
• Excessive precordial activity noted by parents
• Poor feeding and interrupted feeding
• Excessive forehead sweating
• Orthopnea equivalent
• Respiratory infections that are frequent,
prolonged and difficult to treat
• Failure to thrive
Assessment of PBF
Clinical features
• Intercostal and sub-costal retractions
• Cardiomegaly
• Visible precordial activity
• Ejection murmur in the pulmonary area
• Diastolic flow murmur in the apical area
Absence of these findings mean that the PBF is
normal or decreased
Hemodynamic Classification
• Duct dependent lesions
– Duct dependent pulmonary circulation
– Duct dependent systemic circulation
• Left to right shunts (Post tricuspid)
• Admixture physiology
• TOF physiology
• Miscellaneous
– Valvular diseases
– Obstructive lesions
– Cardiomyopathies
Normal Heart
L – R shunts (pre tricuspid)
Atrial Septal Defect
• Increased PBF
• No cyanosis
• No PAH
• Volume overload
without pressure
overload
Partial anomalous
pulmonary venous
connection
L – R shunts (post tricuspid)
Ventricular Septal
Defect
• Increased PBF
• No cyanosis
• Volume and
pressure overload
Complete AV canal defect
Patent ductus arteriosus
Aorto pulmonary window
Admixture physiology
Single ventricle
• PBF increased
• Mild systemic
desaturation (very
mild/ no cyanosis)
Tricuspid atresia with VSD
Mitral atresia with VSD
Double outlet RV
TAPVC
Tricuspid Atresia Single Ventricle
TOF physiology
Tetralogy of Fallot
• PBF reduced
• Significant
cyanosis
Single ventricle with PS
DORV with PS
Tricuspid atresia with
restrictive VSD
To simplify…
• Acyanotic + active chest = simple L-R shunt
• Cyanotic + active chest = admixture
physiology
• Cyanotic + quite chest = TOF Physiology
‘Physiological / Functional’ approach
Significant cyanosisMild CyanosisNo Cyanosis
No h/o CCF
Quiet precordium
TOF physiology
Heart failure
Hyperactive precordium
Murmur
Admixture
physiology
L – R shunts
(usually
post tricuspid)
‘Physiological / Functional’ approach
No cyanosis
No CCF
No active precordium
+
Prominent murmur
Small L-R shunts
Valvular HD
AS, PS, MR
No cyanosis
H/o CCF
Active precordium
+
No/short murmur
Cardiomyopathies
Infants (after 3 months)
• Ventricular Septal Defects (Moderate to large)
• PDA / AP window
• Tetralogy of Fallot physiology
• Admixture physiology
• Outflow tract obstructions, esp PS
• Congenital AV valve regurgitation
• Cardiomyopathies, ALCAPA
Older children
• Moderate to small VSD (can be large)
• Small PDA (can be mod to large)
• Fallot and its variants
• PS, AS
• RHD
Summary
• Hemodynamic understanding of CHD is very
important
• Clinical, CXR and ECG clues
• Neonatal period: Duct dependent lesions,
cyanosis or shock like status
• Infancy: approach based on systemic
desaturation and pulmonary blood flow
• To have a low threshold for ordering an
echocardiography if clinically indicated
Thank you for your attention!

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Approach to cyanotic congenital heart disease

  • 1. Practical approach to Cyanotic Congenital Heart Disease
  • 2. Diagnosing Heart Disease • Suspecting it • If you are waiting for the child to present to you with cyanosis, you are likely to miss majority of the cases • History and clinical clues • Role of Chest X Ray, ECG, Echocardiography
  • 3. CHD: Traditional Clinical Diagnostic Approach pulmonary blood flow Cyanotic  pulmonary blood flow PS PAH Acyanotic L-R Shunts Obstructive lesions Miscellaneous
  • 4. CHD: Diagnostic approach • Age oriented approach – Neonates – Early and mid infancy – Late infancy and older children • ‘Physiological’ diagnosis rather than anatomical diagnosis – Functional effects of the heart disease: Cyanosis, Pulmonary blood flow, CCF, Shock – Assessing the need for early intervention
  • 5. Hemodynamic Classification • Duct dependent lesions – Duct dependent pulmonary circulation – Duct dependent systemic circulation • Left to right shunts (Pre and Post tricuspid) • Tetralogy of Fallot physiology • Admixture physiology • Miscellaneous – Valvular diseases – Obstructive lesions – Cardiomyopathies
  • 6. Neonates • Duct dependent lesions – Duct dependent pulmonary circulation – Duct dependent systemic circulation • Transposition of great arteries • Total anomalous PV drainage (Obstructed) • Admixture lesions • Large PDA (Preterms), AP Window, Trucus arteriosus
  • 7. Duct Dependent Pulmonary Circulation • Discontinuity between pulmonary ventricle and pulmonary artery • Typical presentation: 24-72 hours .
  • 9. Ebstein’s Anomaly ( Functional Pulmonary Atresia)
  • 10. Clinical features • Development of cyanosis, rapid worsening • Single S2 • Unremarkable otherwise (no murmur) • Sick looking and acidotic • Misdiagnosed as sepsis commonly
  • 11. Detection of cyanosis • Cyanosis indicates presence of R-L shunt • Can be easily missed: Poor lighting, dark skin and anemia • Absence of h/o cyanosis does not r/o cyanotic heart disease • At times cyanosis is evident only during activity or crying
  • 12. Detection of cyanosis • Clinical cyanosis is apparent only if the SO2 is <85% • Any value <95% is abnormal after 48 hours of birth • Pulse oximetry: invaluable tool to aid clinical diagnosis (detects subclinical cyanosis)
  • 13. Work up of the Cyanotic Newborn: The Hyperoxia Test 100% O2 via hood ~10 min.. PO2 < 150 mmHg CHD likely PO2 >200mmHg, CHD unlikely 150 to 200  < 70 mmHg CHD very likely
  • 14. Duct dependent systemic circulation • Obstruction to left heart outflow: – Aortic atresia, – Severe coarctation – Hypoplastic left heart syndrome • Circulation maintained by flow through the PDA (R-L shunt) • When PDA constricts, systemic perfusion is compromised
  • 15. • Present with shock like state • Pulse disparity, SO2 disparity (Difference of >5%) • Single S2, no murmur
  • 16. Signs of Low Cardiac Output • Poor perfusion, bradycardia, hypotension • Acidosis • Cyanosis • Arrhythmias • Altered sensorium • Temperature instability • Renal and Liver dysfunction
  • 17. Clinical clue • Femoral pulsations: often the only clue to the presence of coarctation; Careful palpation and comparison with brachials • Ideally four limb BP measurement should be made (automated NIBP preferred ) SHOCK WITH DIFFERENTIAL CYANOSIS: EXCLUDE CHD
  • 18. Mode of presentation A relatively well child presenting dramatically between 2 days to 1 week of life strongly suggests duct dependent lesion
  • 20. Transposition of Great Arteries • Two parallel circuits • Early presentation with intact IVS • Large ASD or VSD will delay the presentation • Single S2 • Short ESM
  • 21. Obstructed TAPVC • Pathway from PVs to LA obstructed • Results in Severe PVH and PAH • Variable presentation depending of severity of obstruction • S2 variable • ESM at PA RA RV LV LA PA Ao Inn Obstructed TAPVC
  • 22. • If there is a murmur • It there is cardiomegaly in the CXR • If there is pulse discrepancy – We all know that …. – We already knew that ….. So… when to suspect heart disease?
  • 23. So… when to suspect heart disease? • Any child who does not fit clearly to your initial clinical diagnosis – Think if this could be heart disease and look out for some more clues – Read the CXR again, take an ECG – When in doubt, do a simple echo: A4CV
  • 24. • Any child with significant desaturation (assuming that we are doing pulse oxymetry in every child. If we have not started this practice, we should start it today) – Think if this could be heart disease and look out for some more clues – Read the CXR again, take an ECG – Don’t hesitate to ask for an echo So… when to suspect heart disease?
  • 25. Screening Clinical Examination and Pulse oximetry Pre-discharge Repeat 6-8 weeks Any one abnormal Refer for echo and pediatric cardiology evaluation
  • 26. Role of Chest X Ray
  • 27. Role of Chest x Ray  Situs  Cardiac position  Chamber enlargement  Arch sidedness  Lung vasculature  Lung parenchyma  Bony cage and diaphragm
  • 33. Low SO2, intubated at admn Decreased PBF
  • 34. Ground- glass Haze Obstructed TAPVC Low SO2, intubated, no improvement
  • 36. 8 years old; minimally symptomatic Supracardiac TAPVC Left vertical vein Dilated SVC
  • 37. TAPVC @ 7 days
  • 39. No ‘egg’, had TGA ‘egg’ appearance, had Truncus arteriosus
  • 41. Role of ECG • It is normal in many of the serious CHD. Hence, a normal ECG does not rule out a heart disease • An abnormal ECG, almost always points towards a serious heart disease • Answer three questions: – Is the QRS axis rightward – Is there RV dominance – Are there q waves in II, III and aVF
  • 42. QRS axis… simplified • Look at lead I and aVF • Calculate the mean QRS voltage I aVF + + - -
  • 46. 3 weeks to 3 months ‘Physiological / Functional’ approach Answer two questions • Is there cyanosis / systemic desaturation? • Is the pulmonary blood flow is normal/decreased or increased?
  • 47. Large ASD vs large VSD • Volume overload • RV vs LV • Pressure overload
  • 48. Assessment of PBF History • Excessive precordial activity noted by parents • Poor feeding and interrupted feeding • Excessive forehead sweating • Orthopnea equivalent • Respiratory infections that are frequent, prolonged and difficult to treat • Failure to thrive
  • 49. Assessment of PBF Clinical features • Intercostal and sub-costal retractions • Cardiomegaly • Visible precordial activity • Ejection murmur in the pulmonary area • Diastolic flow murmur in the apical area Absence of these findings mean that the PBF is normal or decreased
  • 50. Hemodynamic Classification • Duct dependent lesions – Duct dependent pulmonary circulation – Duct dependent systemic circulation • Left to right shunts (Post tricuspid) • Admixture physiology • TOF physiology • Miscellaneous – Valvular diseases – Obstructive lesions – Cardiomyopathies
  • 52. L – R shunts (pre tricuspid) Atrial Septal Defect • Increased PBF • No cyanosis • No PAH • Volume overload without pressure overload Partial anomalous pulmonary venous connection
  • 53. L – R shunts (post tricuspid) Ventricular Septal Defect • Increased PBF • No cyanosis • Volume and pressure overload Complete AV canal defect Patent ductus arteriosus Aorto pulmonary window
  • 54. Admixture physiology Single ventricle • PBF increased • Mild systemic desaturation (very mild/ no cyanosis) Tricuspid atresia with VSD Mitral atresia with VSD Double outlet RV TAPVC
  • 56. TOF physiology Tetralogy of Fallot • PBF reduced • Significant cyanosis Single ventricle with PS DORV with PS Tricuspid atresia with restrictive VSD
  • 57. To simplify… • Acyanotic + active chest = simple L-R shunt • Cyanotic + active chest = admixture physiology • Cyanotic + quite chest = TOF Physiology
  • 58. ‘Physiological / Functional’ approach Significant cyanosisMild CyanosisNo Cyanosis No h/o CCF Quiet precordium TOF physiology Heart failure Hyperactive precordium Murmur Admixture physiology L – R shunts (usually post tricuspid)
  • 59. ‘Physiological / Functional’ approach No cyanosis No CCF No active precordium + Prominent murmur Small L-R shunts Valvular HD AS, PS, MR No cyanosis H/o CCF Active precordium + No/short murmur Cardiomyopathies
  • 60. Infants (after 3 months) • Ventricular Septal Defects (Moderate to large) • PDA / AP window • Tetralogy of Fallot physiology • Admixture physiology • Outflow tract obstructions, esp PS • Congenital AV valve regurgitation • Cardiomyopathies, ALCAPA
  • 61. Older children • Moderate to small VSD (can be large) • Small PDA (can be mod to large) • Fallot and its variants • PS, AS • RHD
  • 62. Summary • Hemodynamic understanding of CHD is very important • Clinical, CXR and ECG clues • Neonatal period: Duct dependent lesions, cyanosis or shock like status • Infancy: approach based on systemic desaturation and pulmonary blood flow • To have a low threshold for ordering an echocardiography if clinically indicated
  • 63. Thank you for your attention!