1. Approach to a patient with
Congenital Cyanotic Heart Disease
-
Speakers:Dr. Debasis Maity
Dr.Md.Samim Shikari
Chittaranjan Sishu Sadan,Kolkata

2. Nightmare:
• It’s 2A.M
• Posted in NICU
• Your 1st night therein
• You get a callbook from C.S OT
• You rush to the spot
• See a just delivered “Blue Baby”.
• Take all reversible measures to resuscitate
• Excluded all causes ,remaining only cardiac causes left
• Baby dies
• Postmortem done to find out the cause
• And yes you were right ,it was a case of TGA with Intact
septum.

3. Congenital Heart Disease
• Prevalence
• 0.8% of live births
• 3-4% of stillborns, 10-25% of spontaneous
abortuses
• 2% of premature infants (Excluding PDA)
• Leading cause of death among children with
congenital malformations

4. Cyanotic Heart Disease
• Patient appears blue (cyanotic), due to
deoxygenated blood bypassing the lungs and
entering the systemic circulation.
• Can be caused by right-to-
left or bidirectional shunting, or malposition
of the great arteries.

5. Acyanotic or Cyanotic
• Normal saturations are 95%
• Visual diagnosis below 85%
• Pulse oximetry useful in cases with SpO2
between 85% and 94%
• Important to measure pre and post ductal
saturations and po2

6. Common Cyanotic Lesions
Decreased Pulmonary Blood
Flow
Increased Pulmonary Blood
Flow
Tetralogy of Fallot
Tricuspid Atresia
Pulmonary Atresia with intact
Septum
Double Outlet Right Ventricle with
PS
TGA with PS
Ebstein Anomaly
Transposition of the Great Arteries
Total Anomalous Pulmonary
Venous Return
Hypoplastic Left Heart Syndrome
Persistent Truncus Arteriosus

7. History
• Development and weight gain
• Poor feeding
• Cyanosis and cyanotic spells
• Squatting
• Tachypnea, dyspnea
• Frequent respiratory infections
• Exercise intolerance
• Chest pain, syncope, palpitations
• Neurological Symptoms

8. Antenatal and Family History
• Maternal Infections
– Rubella, CMV, Herpes, Coxsackie, HIV
• Maternal Medications, Alcohol and Smoking
– Amphetamines, Lithium, Valproate
• Maternal Conditions
– Diabetes, SLE
• Hereditary Disease
– Marfan, Long QT syndrome, Holt Oram Syndrome

9. Physical Examination
• General appearance, weight and nutrition
• Association with chromosomal syndromes and
other systemic malformations
• Colour
• Vital Signs
– Pulse, BP, respiration and temperature

10. 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

11. 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

12. Cyanosis
• Cyanosis: Bluish discoloration of skin and mucous
membrane due to reduced Hb concn more than
5gm/1ooml in cutaneous veins
• Central Cyanosis
– Right to left shunts
– Respiratory or CNS Pathology
• Peripheral Cyanosis - Exposure to cold,
congestive heart failure, polycythemia, shock

13. • Differential Cyanosis-Hands RED ,feet BLUE-as
in PDA
• Reverse differential cyanosis-Hands BLUE,feet
RED-as in Transposition of the great vessels (TGA) +
PDA + Pulmonary hypertension
• Intermittent Cyanosis-Ebstain’s anomalies.
• Cyanosis is recognized at higher level of
spo2(80-85%)in polycythemia and at a lower
level of spo2(45-50%) in severe anaemia.

14. Causes of cyanosis
CNS Depression Irregular respiration, poor muscle tone
Improves with stimulation or mechanical
ventilation
Pulmonary Disease Tachypnea, respiratory distress
Crepitations, decreased breath sounds,
CXR findings, Improvement with O2
Cardiac disease Tachypnea without retractions
Lack of respiratory findings
Little or no improvement with O2
CXR abnormal cardiac silhouette

15. Pulse and BP
• Examine pulse and BP in all four limbs
• Weak lower limb pulses suggestive of
coarctation
• BP compared against age specific percentile
curves

16. Systemic Examination
system wise but mainly-
• First and second heart sounds
• Loud or muffled heart sounds
• Splitting
MURMUR
• Location
• Timing
Signs of congestive cardiac failure(eg-hepatomegaly etc)
Presence of murmur not necessarily pathological BUT Absence of
murmur does not rule out cardiac lesions

17. Chest Radiography
• Cardiac size(CTR to be measured) and
silhouette
• Cardiac chambers and great vessels
• Pulmonary vascular markings
• Differentiate with pulmonary disease

18. Normal Cardiac Silhouette

19. Hyperoxia Test
Appreciable specificity, sensitivity when
matched clinically.
• Measurements to be obtained by TCOM or by
arterial po2.
• If arterial Po2>250 torr:PASSED:excludes
critical structural heart disease.
• <100:FAILED: diagnostic of cyanotic heart
disease(in absence of obvious lung disease)
• 100-250: may be intracardiac mixing….

20. • We can also check preductal(rt radial art) and
post ductal(umbilical art/post.tibial artery)
arterial difference in po2.Difference of more
than 20 torr is to be taken as
significant.(remember differential
cyanosis/reverse differential cyanosis)

21. Arterial Blood Gas
• Confirm or reject cyanosis
• Elevated pCO2 suggests respiratory pathology
• Low pH in sepsis, shock or severe hypoxemia
• Pre and post ductal (umbilical artery or lower
limb) useful to confirm differential saturations

22. Echocardiogram
• Definitive diagnositic modality for structural
heart disease
• M-mode, 2D Echo and Doppler
• Windows commonly used – Apical 4 Chamber,
Parasternal long and short axis, Suprasternal,
Subclavicular and Subcostal

23. CHD – Age of Presentation

24. Common Congenital Cyanotic Heart
Diseases

25. Case scenario 01:
• A 2yr old boy presented with episodes of
becoming blue mostly in the morning.
• O/E-central cyanosis,clubbing.
• No pallor,oedema or respiratory distress.
• CVS-heart was of normal size,parasternal heave
+ve, systolic thrill palpable over lt.middle sternal
border.S1-Normal,S2-only A2 is audible.
• Liver –not enlarged.
• CXR given below.
• ECG-Rt axis deviation. Dignosis????????

26. Xray chest

27. Tetralogy Of Fallot
• High VSD
– Large enough to equalize
pressure
• Pulmonic stenosis
– Usually infundibular,
sometimes valvular
• Overriding of the aorta
• Right ventricular
hypertrophy

28. TOF – Other Anomalies
• Right aortic arch – 25%
• Pulmonary atresia – 15 – 20%
• Left superior vena cava
• Complete AV septal defect – 2%
• Tricuspid valve anomalies
• Anomalous coronary arteries – Ant descending
artery from RCA; passes across RVOT – 5%
• Anomalies of Pulmonary Artery and branches

29. TOF – Critical component
Degree of pulmonary stenosis
– Determines degree of R L shunt(proportional
relation)
– Determines duration and grade of murmur(inverse
relation)

30. TOF - Clinical Features
• Dyspnea/Dyspnea on exersion
• Cyanosis with tachypnea and clubbing
• Failure to thrive
• Severity of PS determines age of presentation
• Cyanotic spells /“tet spells”.

31. TOF - Investigations
• ECG
– Right axis deviation and
RVH
• CXR
– Decreased pulmonary
vasculature
– Concave PA segment
– Right aortic arch, right
atrial enlargement

32. Echocardiography
Parasternal long axis view Parasternal short axis view

33. TOF – Cyanotic spells
• Hyperpnea and cyanosis, progressing to
limpness and syncope, might terminate in
convulsions or even CVA
• Right ventricular infundibular spasm and
decreased systemic vascular resistance
– Increased catecholamines
– Increased respiratory rate

34. Cyanotic spells - Pathophysiology

35. • The highly accepted theory justifying
pathophysiology of TOF with cyanotic spells:
• kothari et al: suggests role of
mechanoreceptors in right ventricular
infundibulum(spasm of RVOT) due to
increased catecholamine,decreased RV size
and hyperpnoea which ultimately precipitates
a tet spell.
• Associated reduction in SVR is also postulated.

36. Cyanotic spells – Treatment
• Always check ABC,vitals as and when
necessary.
• A) Knee chest position- To increase systemic
vascular resistance
• B) Oxygen- Oxygen to improve oxygenation.
• C) Morphine- Depresses respiratory center→
abolish hyperpnoea. While giving this,
facilities for ventilation should be
available.dose-0.2mg/kg sc/im

37. • E) Propanolol- 0.01-0.25 mg/kg intravenously
over 5 min. Reduces dynamic RV outflow
obstruction.
• Slows HR (↓ R→ L Shunting). Slight ↑ in SVR.
Blocks hyperpnea response.
• F) Ketamine- 1-3mg/kg. IV over 1min→ has dual
benefit causes sedation and ↑ SVR
• G) Phenylephrine Hydrochloride- 0.01 mg/kg IV
(slowly) or 0.1 mg/kg SC or IM (↑ SVR – dose to
be titrated to BP response).

38. • H) Methoxamine- 0.10mg/kg IV over 5-10
min. Leads to ↑ SVR.
• I) IV fluids- preferably initially as bolus of 10-
20cc/kg which may be increased to 60cc/kg.
Bolus fluid should be isotonic saline or colloid.
Extra volume can be given in cyanotic spell as
the physiology is not inductive to CCF and also
because of a restrictive RV physiology.

39. • J) Inj NaHCO3-(1-2 meq/kg intravenously slowly)
with 1:1 dilution with 5%D. To correct metabolic
acidosis.
• K) Transfuse PRBC’s- 5-10 ml / kg IV over 5 hrs.
• L) Correct Tachyarrhythmia- Improve diastolic
filling and cardiac output.
• M) RSI and mechanical ventillation as and when
necessary.Some people recommend availability
of atleast temporary pacing facilty before
instituting beta blockers.

40. TOF – Surgical Management
• Complete surgical repair
– As early as 3 – 4 months of age
• Palliative surgery
– TOF with pulmonary atresia/hypoplastic PA
– Unfavourable coronary artery anatomy
– Young infants with severe cyanotic spells

41. Palliative surgeries in TOF
• Waterston’s shunt: between ascending aorta
& right pulmonary artery.
• Blalock-Taussig shunt: between subclavian
artery & pulmonary artery.
• Pott’s shunt: descending aorta and left
pulmonary artery.

42. Surgery - TOF

43. CASE SCENARIO 02:
• A 2month old INFANT OF DIABETIC MOTHER(full
term delivery) presented to ER with marked
respiratory distress.o/e –central cyanosis+,b/l-
creps,HR-180/min,RR-58/min,Liver palpable-
5.5cm.H/O-repeated episodes of
cough,resp.distress,fever since birth.CVS-gr 3 ESM @
lt.parasternal area,CXR-cardiomegaly with narrow
base and plethoric lung fields.Also there is a H/O
exacerbation of cyanosis during cry.Diagnosis??????

44. CXR of that infant

45. Dignosed:
• TGA with VSD in Cngestive failure

46. Transposition of Great Vessels
• Aorta arises from right
ventricle, pulmonary
artery from left
ventricle(d-TGA)
• Systemic and
pulmonary circulations
exist as parallel
circulations
• PDA and PFO enable
survival; 30 - 40% have
VSD

47. Transposition of Great Vessels
• Also known as D-TGA
• Normal relation – Aorta
posterior and to the right
of pulmonary artery
• In TGA aorta is anterior
• Presents with cyanosis
and tachypnea within first
few hours or days of life
• Severity inversely
proportional to presence
of shunts

48. TGA - Variants
• TGA with intact
Interventricular septum
• TGA with VSD
• TGA with VSD and LVOT
obstruction (Pulmonary
stenosis)

49. TGA - Diagnosis
• ECG usually normal –
Right dominant
• CXR shows mild
cardiomegaly, narrow
mediastinum, and
normal to increased
pulmonary blood flow,rt
upper field shows
maximum plethora.
• Egg on end appearance.

50. TGA - Echo

51. TGA - Treatment
• PGE1 (start with 0.05-0.1mcg/kg/min,once the
desired effect is achieved the dose is gradually
reduced to 0.01mics/kg/min)) to maintain PDA
• Rashkind balloon atrial septostomy in severely
hypoxic or acidotic infants
• Arterial switch procedure (Jatene) performed as
early as first 2 weeks of life
• Rastelli operation another alternative
• Previously, atrial switch operations were done by
creating atrial baffles

52. Case scenario 03:
• A 1month old boy,presented with-
• Bluish discoloration of extremiteis and tounge
• h/o- dusky appearance since birth,poor
feeding,rapid respiration since birth.
• o/e- poor weight gain,LV type of apical impulse
+ve,prominent large “a” wave in JVP, holosystolic
murmur of grade 3/6 at lt lower sternal border, s1
normal S2 single.Liver-enlarged .
• ECG-LAD+LVH. Dignosis?????

53. Tricuspid Atresia
• Circulation through
Foramen Ovale/ASD
• Associated VSD or PDA
• Presentation depends
on relation between
great arteries and
presence or absence of
PS
• Commonest – Type 1b
(No TGA, small VSD, PS)

54. Tricuspid Atresia - Presentation
• 50% present on D1,
80% by 1st month
• Infants with
pulmonary oligemia
present early with
cyanosis, hyperpnea,
acidosis
• Infants with
pulmonary plethora
present with CHF
51%
18%

55. Diagnosis
• CXR depends on pulmonary blood flow
• ECG – Right atrial enlargement, left axis
deviation, LVH
• Echo –
– Absence of Tricuspid valve
– Relation of great arteries
– RVOT
– VSD, PDA

56. Management
• Corrective surgery – Fontan procedure, usually
after 2 years of age
• Palliation –
• BT shunt for oligemia
• Manage CHF in infants with pulmonary plethora
• Consider PA banding if medical measures fail,
remember VSD might close spontaneously in Type 1
• Palliative measures meant to try to attain
normal LV function, adequate PBF at low PA
pressure

57. Case scenario 04
• A 2.5months old MALE infant, presented with mild
cyanosis since birth,
• o/e-Now underweight, mild central Cyanosis.tachypnea
,tachycardia, precordial bulge+ve,hyperactive rt
ventricular impulse,cardiac impulse is highest at
xiphoid process and lower lt sternal border.
• S1-normal,S2-wide split and fixed,P2 accentuated,mid-
diastolic rumble +nt at lower lt sternal border
• Hepatomegaly +nt
• ECG-RVH pattern(rsR´ IN v1)
• Cxr-given below

58. Dignosis?

59. Total Anomalous Pulmonary Venous
Return
• Pulmonary veins drain
anomalously into RA or
systemic venous
tributaries
– Supracardiac – 50%
– Cardiac – 20%
– Infracardiac - 20%

60. TAPVR
• Presentation and
severity depends on
pulmonary venous
obstruction
• ASD or PFO essential for
survival

61. TAPVR - Management
• Treat CHF with diuretics, digitalis
• Correction of metabolic acidosis, pulmonary
edema
• Corrective surgery – earlier in obstructed
TAPVR
• Aim to return blood to LA and close ASD
• Obstructed TAPVR – symptoms exacerbated or
precipitated by PGE1

62. CHD – Ductus dependent lesions
Ductus Dependent Systemic
Circulation
• Hypoplastic Left Heart
Syndrome
• Crictical AS
• “Shone” complex variants
• Coarctation of aorta
• Interrupted Aortic Arch
Ductus Dependent Pulmonary
Circulation
• TOF with PA
• Pulmonary Atresia with intact
interventricular septum
• Critical PS
• Tricuspid Atresia with PS/PA
• Single ventricle with PS/PA
• Severe Ebstein anomaly
• Complete TGA with intact IVS

63. Case scenario 05:
• A 2yr old child presented to OPD with-
• h/o-effort intolerance,easy fatiguability,with new onset
bluish discolaration of body and tounge which is gradually
increasing
• Mother has manic depressive psychosis*7yrs.father puts
forward a h/o of rapid heart beats of the child occasionally
which he has noticed.
• Significant history??-One child died after similar type of
presentation and had sudden death.(coincidental?)
• o/e- moderate central cyanosis,dominant “v” wave in
jvp,S1-normal,S2-wide split but variable,TR
murmur(systolic) +nt.
• ECG- RBBB+RAH pattern and has a characteristic clinch

64. Dignosis?

65. Diagnosis?
• EBSTEIN’S anomaly with
• WPW syndrome

66. CHD – Management Summary
Ductus dependent Pulmonary Circulation
• TOF and PA/PS represent central cyanosis
• Cyanosis aggravated with closure of ductus
• Aim to keep ductus open till palliative shunt
surgery; Eg. BT shunt
• PGE1 infusion indicated

67. Ductus Dependent Systemic Circulation
• Signs of poor perfusion, acidosis, mimics sepsis
• Maintain ductus patency with PGE1
• Ventilatory strategies to increase pulmonary
vascular resistance, avoid pulmonary over
circulation
• Ideal systemic:pulmonary flow 1:1
• Adjust PEEP, insp. Rate, Tidal Volume
• Avoid too much O2 , pO2 around 80%
• Decrease SVR – Phenoxybenzamine, Milrinone

68. Medical Management
• When a congenital cyanotic heart defect or
duct dependent lesion is suspected –
– Start PGE1 infusion (0.05 – 0.1 mcg/kg/min)
– Maintenance dose of 0.01 mcg/kg/min
– May cause apnea (12%), fever (10%) and flushing.
– Less commonly brady/tachyarrythmia, shock,
cardiac arrest

69. Antenatal Diagnosis
• Fetal echo – usually done around 18 – 24
weeks, as early as 12 weeks
• High risk approach –
– Sibling/Family history of CHD
– Maternal infection, autoimmune, metabolic
conditions, drug intake
– Fetal chromosomal anomaly, arrythmia
– Abnormal 4 Chamber view on USG

70. Fetal Echo
• May be done by
transabdominal or
transvaginal approach
• 4 chamber, 5 chamber
and 3 vessel views

71. Practical Approach to a cyanotic
patient
• Rule out acrocyanosis,cyanosis d/t extracardiac
causes and treat accordingly to revert .
• Crying,free flow of 100% o2,warming,Rx of
circulatory compromise revert those situations
CYANOSIS
• Conduct HYPEROXIA TEST accordingly(po2 less
than 100torr)
• Measure pre+post ductal po2 difference ,if
any(significant)
CAYNOYSIS
PERSISTS!!!!!
• Cardiological evaluation
• CXR
• ECHOCARDIOGRAPHY
• ECG
Po2<100 torr: FAILED
HYPEROXIA TEST

72. Contd.
• By Echocardiography
• Maintain ductus dependent flow with PGE1 infusion to buy
time for corrective surgeries if compatible with life
RULE OUT
DUCTUS
DEPENDENT FLOW
• By Echocardiography
• Conservative management+corrective cardiac surgeries as
recommended if any + antifailure measures if needed
DUCTUS
INDEPENDENT
LESION
• For opinion from cardiologists & cardiothoracic surgeons
• We must not hesitate to call help from others
REFERRAL AS
AND WHEN
NECESSARY

73. A BREIF DISCUSSION

74. Take home messages
• Maintain a high index of suspicion in neonates
and infants with respiratory or feeding
difficulties, and failure to thrive and cyanosis
• Basic investigations that are regularly done give a
good idea about the presence as well as type of
CHD even before an Echo is available
• One should not ignore the role of
ECHOCARDIOGRAPHY because pure clinics may
not be enough to definitely reach at proper
diagnosis.

75. • Early institution of treatment to prevent long
term morbidity and mortality
• Seek opinion from cardiologists and
cardiothoracic surgeons without hesitation
• Maintain nutrition,hydration,prevent
infection,anemia .
• Train and demonstrate “knee-chest” position
to mother/attendents to abolish cyanotic
spells.

76. Knee chest positions

77. Thank You