approach to neonatal cyanotic heart disease, NEWBORN

1. APPROACH TO NEONATAL
CYANOTIC HEART
DISEASE, MANAGEMENT
OF TGA
DR Y SUSRUTH REDDY, NICU FELLOW,
MODERATOR: DR N SARAVANAN

4. • Cyanotic lesions comprise approximately one-third of potentially fatal
forms of congenital heart disease.
• Early recognition, emergency stabilization, and transport to
appropriate cardiac centre are critically important in the outcome.
• Prenatal sonography may miss some patients with CHD.
• The sensitivity of CHD is highly variable depending upon the operator
expertise, GA and type of defect.

5. • In neonates who are not identified by prenatal sonography, CHD may
be suspected by history, physical findings, pulse oximetry screening,
chest radiography, ECG findings.
• Diagnosis is confirmed by echocardiography.
• Hyperoxia test, which helps to distinguish CHD from respiratory
causes of cyanosis , used in some settings.

6. • Cyanosis is a commonly observed symptom in newborn.
• Its recognition and prompt management in a timely manner might be
challenging in some instances.
• Presence of fetal haemoglobin and concentration of hemoglobin in
the blood have a implication in the assessment of severity of cyanosis
in newborn.

7. • Central cyanosis caused by reduced arterial oxygen saturation is
generally perceptible when reduced haemoglobin levels exceeds 3
g/dL.
• It can result from several different pathologic mechanisms caused by
cardiac disorders, pulmonary abnormalities, or hemoglobinopathies.
• Physical examination, chest radiography and ECG can help to
distinguish the more common forms of cyanotic CHD from each other
and from other causes of central cyanosis.

8. Differential diagnosis of cyanosis
• Primary cardiac lesions:
oDecreased pulmonary blood flow
 Critical pulmonary stenosis
 Tricuspid atresia
 Pulmonary atresia/ intact ventricular septum
 Tetralogy of fallot
 Ebstein anomaly
 Total anomalous pulmonary venous connection with obstruction

9. oIncreased pulmonary blood flow
 Hypoplastic left heart syndrome
 Transposition of great arteries
 Truncus arteriosus
 Complete common atrioventricular canal
 TAPVC without obstruction
 Other single ventricle complexes

10. • Pulmonary lesions
oPrimary parenchymal lung disease
 Aspiration syndromes
 RDS
 Pneumonia
oAirway obstruction
 Choanal atresia
 Pierre robin syndrome
 Tracheal stenosis

11. oExtrinsic compression of lungs
 Pneumothorax
 Pulmonary interstitial or lobar emphysema
 Chylothorax or other pleural effusions
 CDH
 Thoracic dystrophies or dysplasia

12. oHypoventilation
 CNS lesions
 Neuromuscular diseases
 Sedation
 Sepsis
oPulmonary AV malformations

13. • Persistent pulmonary hypertension
• Cyanosis with normal PO2
oMethemoglobinemia
oPolycythemia

15. History
• A thorough history may identify maternal medical or prenatal
conditions, or family history of CHD.
• Drug intake:
o Lithium- Ebstein anomaly
o Phenytoin- PS and AS.
o Foetal alcohol- VSD,ASD
• Maternal diabetes-TGA, ventricular septal defect (VSD), and
hypertrophic cardiomyopathy.

16. • Associated chromosomal anomalies and syndromes:
oTrisomy 21-VSD, TOF, ASD, PDA.
oTrisomy 18-VSD, polyvalvar disease.
oTrisomy 13-VSD.
oTurner syndrome-coarctation, bicuspid aortic valve.
oNoonan syndrome-pulmonary stenosis, ASD, HOCM.

17. • Holt-oram syndrome-ASD, VSD.
• Alagille syndrome-pulmonary stenosis.
• Williams syndrome-supravalvular aortic stenosis, coarctation.
• Digeorge syndrome-conotruncal malformations.
• VACTERL-VSD.
• CHARGE-conotruncal malformations.

18. Physical examination
• May be useful in differentiating CHD from other cyanotic disorders,
such as respiratory disorders or sepsis, which have overlapping
clinical findings.
• Cyanosis may first be apparent on inspection of mucous membranes
and/or nail beds.
• Mottling of skin or ashen/grey appearance suggestive of
cardiovascular compromise and shock.

19. • Attention should be paid to look for pattern of respiration.
• Palpation of distal extremities for temperature and CRT.
• Diminished or absent pulses suggestive of obstruction of aortic arch.
• Precordial thrill usually indicates aortic or pulmonary outflow
obstruction, restrictive VSD.
• Hyperdynamic precordium suggests sizeable left to right shunt.

20. • Heart sounds, particularly S2, helpful in diagnosis.
• Ejection click suggests pulmonary or aortic valvular stenosis.
• Presence and intensity of murmurs, helpful in diagnosis.
• Careful search for congenital anomalies to rule out chromosomal
anomalies and associations.

21. Vital signs
• In a cyanotic neonate, pulse, respiratory rate, oxygen saturation,
respiratory rate, BP may be similar between CHD and other causes.
• In some cases, findings may point to a specific cardiac lesion.
• A blood pressure gradient between the arms and legs, or weakened
or absent femoral pulses, suggests left ventricular dysfunction
associated with severe coarctation of aorta or interrupted aortic arch.
• If ductus arteriosus is widely patent, no gradient my be detected.

22. • Some structural heart diseases may present with severe respiratory
distress similar to respiratory disorders.
• Seen in TAPVC, HLHS, critical valvar aortic stenosis, severe coarctation
of aorta.
• Vital signs may be normal in structural heart diseases.
• Peripheral cyanosis with tachycardia, tachypnea, hypotension
suggests sepsis.
• Also important to consider HLHS, severe coarctation, critical aortic
stenosis.

23. Pulse oximetry
• Measured from preductal and postductal sites.
• Oxygen saturation values are reduced in central cyanosis and usually
normal in peripheral cyanosis.
• A difference in values at the 2 sites identifies patients with differential
cyanosis.
• Routine use of pulse oximetry in newborn period to screen critical
CHD has been shown to be effective for identifying patients infants
who are not detected prenatally.

25. Second heart sound(S2)
• S2 is normally split in inspiration(aortic component before pulmonary
component).
• Splitting is usually audible in 16 hours in 66% infants, 48 hours in 80%
infants.
• S2 appears to be single in certain cyanotic CHDs.
• In TGA, aortic component is loud and softer pulmonary component is
usually inaudible.
• One component of S2 in TA, HLHS, pulmonary atresia.

26. • In TOF, pulmonary component is usually difficult to detect.
• S2 is normally split in Ebstein anomaly, widely split in TAPVC, difficult
to appreciate in a ill neonate with tachycardia.

27. Murmur
• A pathological murmur is audible in most forms of cyanotic CHD.
• TOF-systolic murmur, typically caused by pulmonary stenosis.
• A soft outflow murmur is heard in pulmonary atresia with intact
ventricular septum, HLHS, TA.
• Diastolic murmur of truncal valve regurgitation also in TA.
• Pulmonary atresia is often associated with TR, produces systolic
murmur at left lower sternal border.

28. • Tricuspid atresia is usually associated with VSD and PS, which causes
systolic murmurs.
• Ebstein anomaly-tricuspid valve is always regurgitant and produces a
systolic murmur at left lower sternal border.
• D-TGA with intact ventricular septum and no pulmonary stenosis
typically has no murmur.

29. Hepatomegaly
• Often occurs in patients with heart failure.
• Seen in left side obstructive lesions such as HLHS, coarctation, critical
aortic stenosis, cardiomyopathy.
• Also seen in infradiaphragmatic TAPVC.
• Palpable liver in midline suggests complex CHD, associated with
asplenia or polysplenia.

30. Chest radiograph
• Differentiates cardiac and pulmonary disorders.
• Three features of chest radiograph can be suggestive of specific
cardiac lesions are shape, pulmonary vascular markings, situs of the
aortic arch.
• Left sided obstructive lesions may have cardiomegaly due to heart
failure.
• Extreme cardiomegaly is seen in Ebstein anomaly, pulmonary atresia
with intact ventricular septum.

31. • Shape
oTOF-boot shaped heart.
oD-TGA- egg on a string appearance, caused by narrow mediastinal
shadow produced by anterior-posterior rather than right-left relation
ship of great arteries.
oTAPVC-Figure of 8 appearance

32. • Pulmonary vascular markings
oIncreased in TA, common AV canal.
oAsymmetric vascular markings in D-TGA.
oIndistinct vascular markings in TAPVC, HLHS, severe coarctation.

33. • Situs of aortic arch
oNormal anatomy is left side aortic arch with indentation of left side of
trachea as the arch crosses over left main stem bronchus.
oRight aortic arch is seen commonly in TOF, also TA.

34. Electrocardiogram
• Although the ECG may be normal in many cyanotic heart lesions
during the neonatal period, some lesions may have specific patterns.
• HLHS-marked right ventricular hypertrophy and decreased left
ventricular forces in lateral precordial leads.
• Ebstein anomaly-right atrial enlargement.
• Lesions associated with small ventricles-left axis deviation for age,
right atrial enlargement(tall, peaked P waves in lead II), LVH

35. Hyperoxia test
• Performed by measuring PaO2in preductal artery before and after
giving 100% FiO2 for 10 minutes.
• Increase in PaO2 more than 250 suggestive of pulmonary disease.
• Increase is lesser or no increase in PaO2 is suggestive of cyanotic CHD.
• It is not definitive, echocardiography is used for confirmation of
diagnosis.

37. Echocardiography
• Provides definitive diagnosis.
• Performed in newborns with central cyanosis, if initial analysis is not
clear.
• Indicated in BP or pulse difference between limbs, cardiomegaly,
pathological murmur.

38. Arterial blood gas
• Provides information on the PaO2, PaCO2, arterial pH.
• Arterial PO2 provides more specific data than O2 saturation.
• Elevated PaCO2 often indicates presence of pulmonary disease, heart
failure due to pulmonary congestion.
• Reduced pH raises concern about poor cardiac output and shock,
seen in hypoxemia and heart failure.
• Low oxygen saturation and normal oxygen tension in
methemoglobinemia.

39. Complete blood count
• To differentiate CHD from non cardiac disorders.
• Elevated Hb% and PCV indicates polycytemia.
• Elevated or decreased WBC count or thrombocytopenia indicates
sepsis.

40. Sepsis evaluation
• Sepsis , common condition in differential diagnosis of CHD.
• Blood culture should be obtained.
• Urinalysis and urine culture are also usually obtained.
• Depending upon clinical evaluation, lumbar puncture should be
obtained.
• Empirical antibiotics are generally given until culture results are
available.

41. TETRALOGY OF FALLOT
• Most common cyanotic heart disease.
• 4 components
1) Vetricular Septal Defect.
2) Pulmonic Stenosis.
3) Overriding of dextroposed aorta.
4) Right Ventricular hypertrophy.

43. • Cyanosis usually depends on degree of RVOTO.
• On physical examination, right ventricular tap may be present along
left sternal border.
• S2 is usually single.
• Systolic murmur along upper left sternal border.
• Intensity of murmur depends on RVOTO.
• Chest radiograph
o Mild RVOTO-normal heart size, pulmonary congestion may be seen.
o Severe RVOTO- normal heart size, boot shaped heart.

45. TOTAL ANOMALOUS PULMONARY VENOUS
CONNECTION
• In this condition, 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

49. • 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.
• Based on obstruction to the pulmonary venous
return, named as, obstructive or non-obstructive.

51. • The supra-diaphragmatic forms are generally non-
obstructive.
• Infra-diaphragmatic forms are almost always
obstructive.
• 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.

52. TRUNCUS ARTERIOSUS
• The coronary, pulmonary and systemic arteries arise from this
single vessel.
• 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 may be seen.

53. • Three types (Collette –Edward Classification)
o Type 1 – a short single segment of pulmonary artery arises from
truncus and later divides into right and left pulmonary artery.
o Type 2 –Right and left pulmonary arteries arise sepeartely from
posterior wall of truncus.
o Type 3 –right and left pulmonary arteries arise seperately from
lateral wall of truncus

55. • 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.
• ECG –features suggestive of LVvolume overload + RV pressure overload.
• CXR- Cardiomegaly + Pulmonary Plethora.

56. 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
are thickened and hypertrophied.
• An interatrial communication, which is necessary
for survival, is usually a stretched patent foramen
ovale.

58. • More than 90% TAhave VSD.
• Some of them have pulmonary stenosis.
• An obligatory right-to-left shunt occurs at the atrial level.
• Symptoms:
o 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.
o If TAandVSD : Infants with pulmonary plethora usually present
with signs of heart failure within the first few weeks of life

59. • 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.

61. 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.

63. • Clinical features:
o 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.
o While increased pulmonary blood flow results in higher
oxygen saturation, systemic blood flow is decreased.
o Perfusion becomes poor, and metabolic acidosis and
oliguria may develop.
o At birth, the infants may be asymptomatic.
o As the ductus begins to close and the pulmonary
resistance falls, tachypnea, tachycardia and cyanosis
may develop.

64. • 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 x-ray-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.

65. • 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.
EBSTEIN ANOMALY

67. • 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.

68. • 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.

69. DIAGNOSIS PHYSICAL EXAMINATION CHEST RADIOGRAPHY ELECTROCARDIORAM
D-TGA S2-Single, no murmur Increase in heart size,
increase in PBF
QRS axis-90 to 150
TOF S2-single, systolic murmur Boot shaped heart, decrease
in PBF
QRS axis-90 to 150
HLHS S2-single, systolic murmur
+/-
Increase in heart size,
venous congestion
QRS axis-90 to 150,
decreased LV forces
PA-IVS S2-single, systolic murmur Increase in heart size,
decrease in PBF
QRS axis-30 to 90, LVH, RAE

70. DIAGNOSIS PHYSICAL EXAMINATION CHEST RADIOGRAPHY ELECTROCARDIOGRAM
Pulmonary stenosis S2-single, systolic murmur Increase in heart size,
decrease in PBF
QRS axis-30 to 90, RVH, RAE
TAPVC S2-split, systolic murmur Increased or normal heart
size, increase in PBF, venous
congestion
QRS axis-90 to 150, RAE
Tricuspid atresia S2-single, systolic murmur
+/-
Increase in heart size,
decrease in PBF
QRS axis- -30 to -90, LVH,
RAE
Truncus arteriosus S2-single, systolic murmur
+/-, diastolic murmur
Increase in heart size,
increase in PBF
QRS axis-90 to 150
Ebstein anomaly S2-split, systolic murmur Increase in heart size,
decrease in PBF
QRS axis-90 to 150, RAE

71. TRANSPOSITION OF GREAT ARTERIES
• TGA is the most common cause of cardiac cyanosis in neonatal
period, represents 5% of all CHDs.
• More common in infants of diabetic mothers(LGA).
• Male to female ratio is 3:1.
• During normal fetal development, aortopulmonary septum septum
seperates the primitive truncus arteriosus into 2 vessels, anterior
main pulmonary artery and posterior aorta.

72. • Normally, the aortic valve is located posteriorly and to the right of
pulmonary valve.
• If the septum does not develop, TGA may occur.
• Associated with genetic disorders.
• Maternal diabetes, toxoplasmosis, TORCH infections, ionizing
radiation, IVF increases the risk of TGA.

74. • Physiological/ clinical classification of TGA:
oGroup 1-TGA with IVS or small VSD with increased PBF.
oGroup-2-TGA with large VSD with increased PBF.
oGroup-3-TGA with LVOTO, and restricted PBF.
oGROUP-4- TGA with VSD, PVOD and restricted PBF.

75. • Diagnostic tests:
oECG-Right axis deviation with right or biventricular hypertrophy.
oChest radiography-egg on string appearance.
o2D-Echo-usually diagnostic and shows parallel relationship of the
great arteries and the right anterior aortic valve.
It is important to determine presence of associated anomalies, such
as VSD, PS, ASD, PDA.

77. • Medical management:
oCorrection of metabolic acidosis.
oContinuous infusion of PGE1 to keep the ductus open, and
supplemental O2 to improve PBF and arterial O2 saturation by
increasing PBF if the hypoxemia is severe.
oOxygen should be administered for severe hypoxia.
oRashkind atrial septostomy-severe cyanosis and restrictive atrial
communication.
oCHF may be treated with diuretics

78. • Surgical correction-intraatrial repair surgeries such as Senning or
mustard operation, Rastelli operation, areterial switch operation.
oOther procedures-REV procedure, Nikaidoh procedure, Damus-Kaye-
Stansel operation.
oArterial switch operation is treatment of choice.
oUsually performed in 1st couple of weeks after birth for simple TGA.
oElectively delayed if large VSD present.

79. oIn this operation, pulmonary and aorta are transected.
oDistal aorta is anastomosed to proximal pulmonary stump(neo-aortic
root).
oPulmonary artery is anastomosed to proximal aortic stump(neo-
pulmonary artery).
oCoronary arteries are moved along to the neo-aortic root along with a
cuff of aortic tissue to allow suturing without compromise of
coronary blood flow.

80. oComplications:
 Coronar artery obstruction.
 Supravalvular pulmonary stenosis at site of anastomosis.
 Ventricular dysfunction.
 Arrhythmias.
 Semilunar valve regurgitation.

82. References
• Cloherty manual of Neonatal care.
• Park’s pediatric cardiology.
• Neoreviews-Evaluation of the cyanotic newborn, October 2016.
• Uptodate.com.

83. THANK YOU