1. Screening for Congenital
Heart Disease in the
Newborn
A. Bornstein, MD, FACC
Assistant Professor of
Public Health
Weill Cornell Medical
College
ABB MD
New York Presbyterian Hospital

2. Goals of the Presentation
Provide pathophysiologic framework to:
• Enhance understanding of the various ways in which
congenital heart disease can present in the neonate
• Simplify the approach to congenital heart defects
by organizing them into categories
• Decrease the dependence upon rote memory
• Facilitate management of affected patients
ABB MD

3. Prevalence
• Fertility rate in the USA as of 2007 is 1.7-2.6
• Birth rate in the USA as of 2007 is 14.16/1000 population
• For every 1,000,000 population there are ~14,160 births
 ~142 with congenital heart disease
 ~71 (50%) with ‘clinically significant’ problems
 ~35 (~50%) of these problems are critical and
will need help in the 1st 30 days
 ~28 (~80%) will need help in the 1st week
ABB MD

4. Background
60 - 65 varieties of CHD
<1% of all live-born neonates (40,000 infants/year)
~33-50% have ‘critical heart disease’
ABB MD

5. Most Common Congenital Heart Defects
• Figures are taken from 2 classic studies
• Lesions listed account for 70-80% of all CHD
USA study: 1 of 56,109 births
UK study: 2 of 160,480 births
Mitchell S C et al. Circulation. 1971; 43: 323–32.
ABB MD Dickinson D F et al. Br Heart J. 1981; 46: 55–62.

6. Fetal Circulation
ABB MD

7. Fetal Circulation
Streaming: physiologic functional flow
ABB MD

8. Fetal Circulation to Neonatal Circulation
PO2 21 mm Hg
O2 Sat 55%
Ligamentum arteriosum 
PO2 20 mm Hg Ligamentum venosum 
O2 Sat 52%
Ligamentum teres 
Medial umbilical ligaments 
PO2 32-35 mm Hg
O2 Sat 82-88%
ABB MD

9. Adult Derivatives of Fetal Vessels
Structures Derived from Fetal Circulation
• Ductus venosus  ligamentum venosum
remnant within the liver
• Umbilical vein  intra-abdominal portion Ligamentum arteriosum 
of ligamentum teres (Round Limba fossa ovalis 
ligament)
Ligamentum venosum 
• Umbilical arteries  intra-abdominal
portions of medial umbilical ligaments
(proximal parts  superior vesicle arteries)
• Septum secundum  lower edge of Ligamentum teres 
limbus fossae ovalis (annulus ovalis)
Medial umbilical ligaments 
• PDA  ligamentum arteriosum
ABB MD

10. Postnatal Circulation: Pulmonary Pressure Changes
Age in days
ABB MD

11. Fetal to Transitional to Neonatal Circulation
Mechanisms:
Mechanisms:
1) Physical
expansion
2)  O2 as a gas
ABB MD

12. Fetal to Transitional to Neonatal Circulation
Mechanisms:
Mechanisms:
1) Physical
expansion 2)
 O2 as a gas
ABB MD

13. Fetal to Transitional to Neonatal Circulation
Spontaneous closure of ductus arteriosus occurs in 1st 4 days
By echocardiogram/doppler, 67% of ducts closed by 25.5 hours;
only 11% are patent (89% of ducts closed) by 73.8
hours of life
ABB MD

14. Developmental Approach to CHD
Clark EB. Mechanisms in the pathogenesis of congenital heart defects. In: Pierpont ME,
Moller J: The Genetics of Cardiovascular Disease. Boston, MA: Martinus-Nijoff, 1986;3-11.
ABB MD

15. Congenital Heart Disease: Genomics
• Incidence of CHD is 7-8/1000 live births (<1%)
(10% of spontaneously aborted fetus)
• Etiology of congenital heart defects generally multifactorial (90%)
(2% due to environmental teratogens)
• 7-8% are associated with heritable syndromes; 1% nonheritable syndromes
• Chromosomal defects occur in 8-13 %
i.e., Trisomy 21 (Down syndrome); Chromosome 22q11.2
microdeletion (DiGeorge syndrome, Velocardiofacial syndrome)
• Single gene disorders can occur (i.e., fibrillin defect in Marfan’s Syndrome)
• 5% are associated with other organ system defects
ABB MD

16. Incidence of CHD by Lesion Type
Left to Right Shunts 40%-45%
Obstructive Lesions 25%-30%
Right to Left Shunts 20%-25%
ABB MD

17. Congenital Cardiac Anomalies
L  R Shunt Obstructive R  L Shunt
(40%-45%) (25%-30%)
VSD HLHS
(20%-25%)
AS
PDA TOF
CoA d-TGA
ASD
Tricuspid atresia
IAA
AV canal Pulmonary atresia
PS TAPVR
Truncus arteriosus
ABB MD
Ebstein’s anomaly

18. Initial Overall Assessment of the Neonate
• Physical appearance
• VS: respiratory rate 30-60 BPM & heart rate 100-160 PPM
• Color (pulse oximetry in arms & legs)
• BP & Pulses (4 extremities)
• Skin perfusion 
• Precordial activity, heart sounds, murmurs
• Liver size, liver/stomach location (situs solitus vs. inversus)
• Neurologic
ABB MD

19. Initial Overall Assessment of the Neonate
• Heart: heart sounds, murmurs, cardiac timing cycles
ABB MD

20. Valvar Pulmonic Stenosis
PS Valve Area Gradient
Mild > 1.0 cm2 < 50 mm Hg
Moderate .5-1.0 cm2 50-80 mm Hg
Severe < .5 cm2 > 80 mm Hg
Pulmonic Valve
ABB MD

21. Major Signs & Symptoms of Cyanotic CHD
• Cyanosis: complications of
R  L or bidirectional shunt
1) Erythrocytosis
2) Hyperviscosity
3) Abnormal hemostasis
4) CVA
5) Clubbing
6) Cerebral abscess
7) Endocarditis
ABB MD

22. Initial Overall Assessment of the Neonate
• Precordial activity, heart sounds, murmurs
- Dextrocardia vs. Mesocardia vs. Levocardia
Dextrocardia with situs inversus Mesocardia & situs inversus Mesocardia with situs ambiguous:
mirror image dextrocardia: (right-sided stomach bubble): pulmonary atresia, common atrium,
no congenital heart disease DORV, AV canal, PS, & asplenia VSD, & TGA
• Liver size, liver/stomach location
- (Situs Solitus vs. Situs Inversus)
ABB MD

23. Heterotaxy Syndromes
• Precordial activity, heart sounds, murmurs
• Dextrocardia vs. Mesocardia vs. Levocardia
• Liver size, liver/stomach location
- (Situs Solitus vs. Situs Inversus)
Dextrocardia with situs solitus:
VSD, & TGA
Mesocardia with situs ambiguous
pulmonary atresia, common atrium,
ABB MD VSD, & TGA

24. Heterotaxy Syndromes
• Precordial activity, heart sounds, murmurs
- Dextrocardia vs. Mesocardia vs. Levocardia
• Liver size, liver/stomach location
- (Situs Solitus vs. Situs Inversus)
• Spleen: Asplenia vs. Polysplenia
Dextrocardia with situs solitus
Mesocardia with situs ambiguous
pulmonary atresia, common atrium,
ABB MD
VSD, & TGA

25. Major Signs & Symptoms of CHD in the Neonate
• Tachycardia
• Tachypnea
– Dyspnea
– Hyperpnea
• Pallor, mottling 
• Cyanosis 
ABB MD

26. The Dyspneic/Tachypneic Neonate
• Rapid breathing (>60 breaths/minute)
– Shallow
 Maintain minute ventilation
• Increased work of breathing
– Lung/chest compliance 
 Frequently related to  interstitial lung fluid
– Lymphatic fluid 
 Micro/macro atelectasis
 Small airway obstruction
ABB MD

27. The Dyspneic/Tachypneic Neonate
• Rapid breathing (>60 breaths/minute)
• Increased work of breathing
• Expiratory grunting
• Nasal flaring
• Intercostal and sternal retractions (recession)
• Central cyanosis while breathing room air
• Aeration (ventilation) of lungs  with or without crackles or
crepitations
ABB MD

28. Major Signs & Symptoms of CHD in the Neonate
• Pulmonary plethora:
– Infant with respiratory distress (including tachypnea,
orthopnea caused by pulmonary volume overload
Nasal flaring Diaphoresis with tense anxious facies
Expiratory grunting Rapid breathing (>60 breaths/min)
Increased work of breathing
Intercostal & sternal retractions
ABB MD

29. The Hyperpneic/Tachypneic Neonate
• Rapid breathing
• Hyperventilation
– Deep
– Hypoxic drive
– Compensation for metabolic acidosis
(e.g., Kussmaul respirations)
– Compliant lung/chest
 ‘Dry’ lungs
ABB MD

30. Disasters in the Delivery Room
Most dramatic delivery room resuscitations related to
cardiovascular or pulmonary anomalies are secondary to:
1) TAPVR with obstruction
2) HLHS with restrictive ASD
3) Airway obstruction
 TOF & absent PV syndrome (to & fro murmur)
1) Pulmonary hypoplasia
 Ebstein’s Anomaly; Congenital diaphragmatic hernia
1) Cardiomyopathy or sustained dysrhythmia
 Frequently seen in nonimmune hydrops fetalis
ABB MD

31. Disaster in the Delivery Room
• Pulmonary venous inflow obstruction
- TAPVR with obstruction
Descending
vein
(pulmonary
venous
confluence)
• LV outflow obstruction
- HLHS with restrictive ASD
ABB MD

32. TAPVR With Pulmonary Venous Obstruction
• TAPVR
• Atresia or obstruction of the common
pulmonary venous confluence
ABB MD

33. Ductal Dependent Cyanotic CHD Lesions
ABB MD

34. Ductal Dependent Obstructive CHD Lesions
ABB MD

35. Pathophysiologic Types of Lesions
in Neonatal Cardiovascular Distress
1) Large volume L  R shunt
2) Left heart obstruction
- Outflow obstruction
- Inflow obstruction
3) Pump failure
- Cardiomyopathy
- Sustained arrhythmia
4) Hypoxemia
- PBF  : RVOT obstruction with upstream R  L ‘blow-off’
- PBF  : Ventriculoarterial discordance: d-TGA
ABB MD

36. (1) Large Volume Left to Right Shunt
• Ventricular septal defect
• Patent ductus arteriosus
• A-V septal (‘canal’) defect
• Persistent truncus arteriosus
ABB MD

37. Evaluation of the Acyanotic Shunt Lesions
Acyanotic:
 PBF
Left to Right Shunt
LVH & RVH
LVH
RVH
VSD A-V Canal Defect
ASD
PDA VSD (Late)
PAPVD A-P Window PDA (Late)
ABB MD

38. ‘Dependent’ Shunts: VSD, PDA
ABB MD

39. Ventricular Septal Defect: Types and Position
r
ABB MD

40. Ventricular Septal Defect: Types and Position
ABB MD

41. Patent Ductus Arteriosus
ABB MD

42. Patent Ductus Arteriosus
ABB MD

43. Patent Ductus Arteriosus
Patent ductus arteriosus (PDA) is common in the very preterm infant with
significant lung disease; radiological signs are non-specific

44. (2) Left Heart Obstruction
• Outflow (LVOT) obstruction
– Aortic stenosis
– Aortic coarctation
– Hypoplastic left heart syndrome
– Interrupted aortic arch
• Inflow obstruction
– TAPVR (total anomalous pulmonary venous connection
with obstruction)
ABB MD

45. (3) Pump Failure
• Cardiomyopathy
– Hypertrophic/Restrictive
• Infants of diabetic mothers
• Pompe’s disease
– Dilated/Congestive
• Infectious myocarditis
• Metabolic myopathies
– e.g., mitochondrial myopathy
• Sustained dysrhythmia
– Tachyarrhythmia (SVT, A-flutter)
– Bradyarrhythmia (heart block)
ABB MD

46. Non-Cardiac Causes of Heart Failure
• Hyperthyroidism • Severe anemia
• AV malformations • Polycythemia
• Multiple hemangiomas • Renal failure
• Hypoglycemia • Severe systemic hypertension
• Hypocalcemia • Adrenal insufficiency
• Asphyxia • Metabolic disease (Pompe’s disease)
• Sepsis
Other Cardiac Causes of Heart Failure
• Myocarditis
• Cardiac dysrhythmias (SVT, 30 heart block)
• ALCAPA (anomalous LCA from PA)
ABB MD

47. (4) Hypoxemia
• ( PBF) RVOT obstruction with proximal R  L ‘blow-off’
– Tetralogy of Fallot
– Pulmonary atresia/PS with PFO/ASD
– Tricuspid atresia
• ( PBF) Ventriculoarterial discordance
– d-TGA (Transposition of Great Arteries)
• Intrapulmonary R  L shunting
– Critical pulmonary/lymphatic edema
– Pulmonary AV malformations
ABB MD

48. Cyanotic Congenital Heart Disease
• Clinical cyanosis occurs in presence of 3-5 grams% of
deoxyhemoglobin (unsaturated hemoglobin) in systemic
circulation
• Can’t see cyanosis until O2 saturation is in 85% range or less!
• More accurate & sensitive measurement now with use of
pulse oximetry
ABB MD

49. Factors Affecting Detection of Cyanosis
• Hemoglobin concentration
20 gm% - cyanosis at 85% O2 saturation
9 gm% - cyanosis at 67% O2 saturation
• Proportion of Fetal Hemoglobin; pH; Temp
Adult Hb: cyanosis at PO2 42-53 mm Hg
Fetal Hb: cyanosis at PO2 32-42 mm Hg
• Crying
• Site
Peripheral: hands, feet, circumoral area
Central: tongue, mucous
ABB MD

50. Oxyhemoglobin Dissociation Curve
a-v O2 Difference
Oxygen
delivered by Hb
Oxygen reserve
Normal newborns have
PaO2 ~50
mm Hg by
5-10 minutes after birth:
ABB MD (O2

51. Oxyhemoglobin Dissociation Curve
Oxygen
 pH delivered by Hb
 Temp
 DPG
 pH
 Temp
 DPG
Oxygen reserve
Normal newborns have
PaO2 ~50
mm Hg by
5-10 minutes after birth
(O2 saturation ~ 85%)
ABB MD

52. Deoxyhemoglobin
RHb
3-5 gm%
ABB MD

53. Cyanosis and Hemoglobin Concentration
Arterial O2 saturation level at which cyanosis is detectable at different total Hb
concentrations is illustrated
The solid red portion of each bar represents 3-5 gms/dL of reduced hemoglobin
Lees, MH. Cyanosis of the newborn infant. J Pediatr . 1970; 77:484.

54. Causes of Cyanosis
• Pulmonary
a) Inadequate ventilation
b) Diffusion disorders
c) V/Q mismatch
• Cardiac
a) Limited PBF with abnormal mixing
b) Admixture lesions with increased PBF
• PFC (PPHN)
• Methemoglobinemia
ABB MD

55. Causes of Cyanosis: Methemoglobinemia
• Example of methemoglobinemia in
a young woman given benzocaine
topical spray
• While receiving 100% O2, ABG
documented pH 7.46, PaCO2 41 mm Hg,
PaO2 507 mm Hg, & O2 saturation 84%
• Methemoglobin level was 48.2%
• Tube on the left contains venous blood
from this patient showing characteristic
chocolate brown color; tube on the
right contains venous blood from
normal individual
Donnelly, GB, Randlett, D. Methemoglobinemia - images in clinical medicine. N Engl J Med. 2000; 343:337.

56. Causes of Central Cyanosis in the Neonate
• Right-to-left shunt
– Intracardiac level: cyanotic disease, anomalous systemic
venous connection to left atrium
– Great vessel level: PPH of newborn; d-TGA
– Intrapulmonary level: pulmonary AV malformation
• Ventilation/perfusion mismatch
– Airway disease: pneumonia, aspiration, cystic adenomatoid
malformation, diaphragmatic hernia, pulmonary hypoplasia,
labor emphysema, atelectasis, pulmonary hemorrhage,
hyaline membrane disease, transient tachypnea of newborn
– Extrinsic compression of lungs: pneumothorax, pleural
effusion, chylothorax, hemothorax, thoracic dystrophy,
diaphragmatic hernia
ABB MD

57. Causes of Central Cyanosis in the Neonate
• Alveolar hypoventilation
– CNS depression: asphyxia, maternal sedation, intraventricular
hemorrhage, seizure, meningitis, encephalitis
– Neuromuscular disease: Werdnig-Hoffman disease, neonatal
myasthenia gravis, phrenic nerve injury
• Airway obstruction:
– Choanal atresia, tracheomalacia, macroglossia
• Diffusion impairment
– Pulmonary fibrosis
– Congenital lymphangiectasia
– Pulmonary edema: HLHS, cardiomyopathy
• Hemoglobinopathy
– Methemoglobinemia: congenital or due to toxic exposure
– Other hemoglobinopathies

58. Evaluation of Cyanosis
1) Physical examination and history
2) Pulse oximetry
3) ABG: pH, PCO2, % O2 saturation, baseline PO2
4) CBC, central Hct, WBC with differential, platelet count,
glucose, serum calcium
5) ECG
6) CXR
7) Hyperoxia test
8) 2-D echocardiogram/doppler
9) Cardiac catheterization
ABB MD

59. Cardiac versus Pulmonary Cyanosis
ABB MD

60. Assessing Heart Size on CXR
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61. Pulmonary Causes of Cyanosis
Meconium aspiration
Persistent fetal circulation
ABB MD

62. Pulmonary Causes of Cyanosis
Hyaline membrane disease Pulmonary abscess
ABB MD

63. Pulmonary Causes of Cyanosis
Congenital diaphragmatic hernia Ebstein’s anomaly
ABB MD

64. Evaluation of Cyanotic Shunt Lesions
Cyanotic:
R-to-L Shunt
or
Bi-directional Shunt
 PBF  PBF or
Normal PBF
(+) Pulmonary (-) Pulmonary
Hypertension Hypertension
1) TGA
(+) LV
2) Truncus
(+) RV
3) TAPVR 1) Eisenmenger’s
4) Taussig-Bing 1) Ebstein’s Anomaly 1) TOF
(DORV) 5) 2) Tricuspid 2) Pulmonary
Single Ventricle (DILV) 6) Atresia/IVS Atresia
Tricuspid Atresia/VSD
ABB MD

65. Physical Exam in Cyanotic CHD
• Recognizing significant cyanosis is crux in managing cyanotic
CHD!
• Murmur is often non-specific & non-diagnostic in cyanotic CHD
• Murmurs, when present, are often PS or valve insufficiency
• Precordial impulse is abnormal: watch out for dextrocardia
• Pulses are generally normal
• Check abdominal situs
ABB MD

66. CXR in Cyanotic CHD
Boot shaped heart -TOF; Pulmonary atresia Egg-on-string -TGA; Tri atresia/TGA
Right aortic arch -TOF Small Heart -TAPVR Snowman in a snowstorm -TAPVR
ABB MD

67. ECG in Cyanotic CHD
• d-TGA: normal or RVH Normal EKG
• TOF, PA/VSD: RVH
• TAPVR: RVH
RVH
• Truncus arteriosus: BVH
• Cardiosplenic: abnormal
P wave, LAD, RVH
ABB MD

68. ECG in Cyanotic CHD
Pulmonary Atresia/IVS: absent RV forces, Tricuspid Atresia: absent RV forces,
normal axis, LAD, atrial
atrial enlargement enlargement
ABB MD

69. Hyperoxia Test and Cyanosis
• Normal response
pO2 = 80 mm Hg on 21%  pO2 300+ on 100% O2
• Pulmonary disease
pO2 = 45 mm Hg on 21%  pO2 150-200+ on 100% O2
• Admixture lesions
pO2 = 40 mm Hg on 21%  pO2 60-100 on 100% O2
• d-TGA or ductal dependant PBF
pO2 = 30 mm Hg on 21%  pO2 35 on 100% O2
ABB MD

70. Left Heart Outflow Obstruction
• Symptoms related to:
– Inadequate systemic blood flow
– Pulmonary edema due to pulmonary venous hypertension
• Timing of symptoms related to:
– Closure of ductus arteriosus
 Within days of birth
 May be hastened by hyperoxia
ABB MD

71. Hypoplastic Left Heart Syndrome
ABB MD

72. Aortic Stenosis: Congenital Bicuspid Aortic Valve
ABB MD

73. Critical Congenital Aortic Stenosis: Chest X-Ray & ECG
ABB MD

74. Critical Aortic Stenosis: Aortic Root Injection
Negative contrast jet through
a stenotic aortic valve
ABB MD

75. Critical Aortic Stenosis
ABB MD

76. Critical Aortic Stenosis
ABB MD

77. Hypoxemia-I: Diminished Pulmonary Blood Flow
• ‘Tetralogy physiology’
− PS with upstream R to L ‘blow-off’ at ventricular level
• Same physiology for Single ventricle/PS;
d-TGA/VSD/PS; Pulmonary atresia/VSD
• ‘Hypoplastic right heart physiology’
− Pulmonary stenosis with ASD/PFO
− Pulmonary atresia/IVS
− Tricuspid atresia
− Ebstein’s anomaly with impaired right atrial emptying,
and with upstream ‘blow-off’ at atrial level
ABB MD

78. Evaluation of the Cyanotic Shunt Lesions
Cyanotic:
R to L Shunt
Bi-
directional Shunt
 PBF  PBF or
Normal PBF
(+) Pulmonary (-) Pulmonary
Hypertension Hypertension
1) TGA
2) Truncus (+) LV (+) RV
3) TAPVR 1) Eisenmenger’s
4) Taussig-Bing
(DORV) 5) Single 1) Ebstein’s Anomaly 1) TOF
Ventricle (DILV) 6) 2) Tricuspid 2) Pulmonary
Atresia/IVS Atresia
Tricuspid Atresia/VSD
ABB MD

79. ‘Hypoplastic Right Heart Physiology’
Ebstein’s Anomaly
ABB MD

80. ‘Hypoplastic Right Heart Physiology’
ABB MD

81. ‘Tetralogy of Fallot Physiology’
ABB MD

82. Hypoxemia-II: Normal to Increased Pulmonary Flow
• Ventriculoarterial discordance (d-TGA)
– Cyanosis is greatest when ‘mixing’ is least
– Mixing is best with:
1) Aorta to pulmonary shunt at ductal level (PDA)
2) LA to RA reciprocal shunt at patent foramen ovale ( PFO)
3) Ventricular septal defect (VSD)
ABB MD

83. d-Transposition of Great Arteries
ABB MD

84. d-Transposition of Great Arteries
ABB MD

85. Differential Diagnosis According to Age at Presentation
‘CHF’ (Poor Perfusion or Respiratory Distress)
 In the delivery room (in the first few hours)
− Left ventricular inflow obstruction
− LVOT obstruction with restrictive ASD
− Myocardial failure
 In the first few days
– Ductal-dependent systemic blood flow
 LVOT (left ventricular outflow tract) obstruction
– Large volume left  right shunt
 ‘Obligate shunt’ or volume overload
- AVSD with LV  RA shunt or severe MR)
- Truncus arteriosus with truncal regurgitation
ABB MD

86. Differential Diagnosis According to Age at Presentation
‘CHF’ (Poor Perfusion or Respiratory Distress)
 In first few days
− Ductal-dependent systemic blood flow
 LVOT (left ventricular outflow tract) obstruction
− Large volume left  right shunt
 ‘Obligate shunt’ or volume load
- AVSD with LV  RA shunt or severe MR)
- Truncus arteriosus with truncal regurgitation
 After 1-2 weeks
− Large volume left  right shunt
 ‘Dependent shunt’ (e.g., VSD, PDA)
ABB MD

87. Conclusions
• Understanding pathophysiology of congenital heart disease
simplifies differential diagnosis
 Symptomatic congenital heart disease relates to:
1) Left  Right shunt (large volume)
2) Left heart inflow obstruction or outflow obstruction
3) Pump failure
4) Hypoxemia
ABB MD

88. Conclusions (Cont.)
• Critical Hypoxemia
 In the delivery room (In the first hours)
− Associated airway obstruction
− Associated pulmonary hypoplasia
− Pulmonary venous obstruction
− Transposition with inadequate mixing
 In the first days
− Associated with ductal closure
 Pulmonary outflow obstruction
 Diminished mixing in d-TGA
ABB MD

89. Treatment of Cyanotic CHD
1) Fluid & electrolytes (generally, usual therapy)
2) Support ventilation
3) O2 saturation > 80% adequate for admixture
4) Inotropic support as needed
5) Hematocrit > 40%
6) Nutrition
7) Prostaglandin PGE1 infusion
ABB MD

90. Prostaglandin PGE1 for Cyanotic CHD
• Dose: 0.05-0.1 mcg/kg/min infusion
• May be given via venous or arterial route
• Common side effects:
1) APNEA !
2) CNS - depression, seizures
3) Hypotension
4) Flushing
5) Hyperthermia
6) Thrombocytosis
ABB MD

91. Evaluation of Acyanotic & Cyanotic Shunt Lesions
Cyanotic:
R-to-L Shunt
or
Bi-directional Shunt
 PBF  PBF or
Normal PBF
(+) Pulmonary (-) Pulmonary
Hypertension Hypertension
1) TGA
(+) LV
2) Truncus
(+) RV
3) TAPVR 1) Eisenmenger’s
4) Taussig-Bing 1) Ebstein’s Anomaly 1) TOF
(DORV) 5) 2) Tricuspid 2) Pulmonary
Single Ventricle (DILV) 6) Atresia/IVS Atresia
Tricuspid Atresia/VSD
ABB MD

92. Evaluation of Cyanotic Shunt Lesions
Cyanotic: R-
to-L Shunt or
Bidirectional
 PBF NL or  PBF
(+) Pulmonary HTN (-) Pulmonary HTN
1) TGA
(+) LV (+) RV
2) Truncus 1) Eisenmenger’s
3) TAPVR
4) Taussig-Bing
1) Ebstein’s anomaly 1) TOF
5) Single Ventricle
2) Tricuspid atresia 2) Pulmonary atresia
6) Tricuspid
atresia/VSD
ABB MD

93. Ebstein’s Anomaly: Chest X-Ray & ECG
ABB MD

94. Ebstein’s Anomaly: TEE & Pathology
Incidence: 0.3-0.8% of all congenital heart diseases
in 1st year of life; 1:20,000-50,000 live births
Normal Ebstein’s Anomaly
ABB MD

95. Ebstein’s Anomaly: Chest X-ray & Echocardiography
Natural history: mortality in children
presenting in the neonatal period is 30-50%;
Mortality at all ages is 12.5%
Mortality is higher with severe RAE,
large atrialized RV portion, distally tethered
tricuspid valve leaflet, & RV dysplasia

96. Tricuspid Valve Atresia
ABB MD

97. Tricuspid Valve Atresia
• 1-3% of congenital heart disease
• Mild to severe cyanosis depending on size of VSD & amount of PS
• May be ductal dependant
• Palliated with shunt or occasionally PA band
• ECG with LAD, LAE & RAE, decreased RV forces
• Definitive repair consists of Fontan operation (direct connection of
SVC & IVC to PA without intervening RV)
ABB MD

98. Tricuspid Atresia: Electrocardiogram
• 1-3% incidence
• 66% associated with PS
or Pulmonary Atresia
• 30% associated with d-TGA
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99. Tricuspid Atresia: 2-D Echocardiogram
ABB MD

100. Tetralogy of Fallot
1) VSD, malalignment
2) Pulmonary stenosis (infundibular stenosis)
3) Overriding aorta
4) RVH
Coeur en sabot: boot shaped heart
 PBF (CHF unlikely)
ABB MD Right aortic arch: 25-30%

101. Tetralogy of Fallot
ABB MD

102. Palliative Shunt for Tetralogy of Fallot
ABB MD

103. d-TGA (Transposition of Great Arteries): Definition
• In d-TGA aorta arises from RV & PA from LV
• Normal AP relationship is reversed; aorta lies
anterior & to right of PA; in l-TGA (congenitally
corrected transposition) with ventricular
inversion, aorta is anterior & to left of PA)
• Coronaries arise from aorta
• Normal atrioventricular relationship
• Coronary anatomy is abnormal in 33% of cases
ABB MD

104. d-Transposition of Great Vessels
• 5% of CHD; male:female ratio is 3:1
• Presents with severe cyanosis
(pO2 ~ 20-30 mm Hg or O2 saturation ~ 50-70%) in the 1st
week
• Newborns with TGV, ASD or VSD, & PDA are less cyanotic
• Frequently have no murmur
• ‘Egg shaped heart’ on CXR
• May require balloon atrial septostomy to palliate
• Surgery of choice is arterial switch operation
ABB MD

105. d-TGA: Physical Exam
• Cyanosis: moderate to severe; PaO2 of 20-30 mm Hg
(O2 saturation 50-80%)
• Normal peripheral pulses
• Normal to increased RV impulse
• Loud single S2 because of anterior position of aorta
• Soft 1-2/6 systolic flow murmur at mid-LSB or no murmur
ABB MD

106. CXR in d-TGA
• May be normal in neonate
• “EGG SHAPED” heart in ~33%
with narrow mediastinum &
ovoid heart
• PBF  after a few days
ABB MD

107. d-TGA: Portable Chest X-Ray
ABB MD

108. d-Transposition of Great Arteries (d-TGA)
• d-TGA results in complete separation of pulmonary &
systemic circulation (parallel circuits vs. circuits in series)
• Survival requires communication @ PDA/PFO level
• ASD, VSD, or PDA in 33%; ∴ may be less cyanotic, but
with more CHF secondary to L to R shunt-induced
volume overload
ABB MD

109. d-TGA: Pathophysiology
• Frequently, only small connection is present between right & left
circuits leading to cyanosis
• Low arterial pO2 leads to anaerobic glycolysis & metabolic
acidosis
• Hypoxia & acidosis  carotid & cerebral chemoreceptor activation
resulting in hyperventilation; detrimental to cardiac function
• Postnatal  in pulmonary vascular resistance leads to volume
overload in left heart
• Hypoxia, acidosis, and volume overload lead to CHF
ABB MD

110. Establishing the Diagnosis
• Can be found prenatally on prenatal echocardiogram
• Newborn is cyanotic from birth; cyanosis does not respond to
administration of O2
• “Peaceful tachypnea” unless in heart failure
• No murmur necessarily heard, but single, loud S2 is heard
• Chest X-ray shows  pulmonary vascular markings &
cardiomegaly
• EKG: RAD & RVH (difficult to diagnose in neonate)
• Echo used to demonstrate TGA MD
ABB

111. d-TGA: Cardiac Catheterization Data
ABB MD

112. d-TGA: Selective RV Angiogram & LV Angiogram
ABB MD

113. d-TGA: 2-D Echocardiogram
ABB MD

114. d-TGA: 2-D Echocardiogram
ABB MD

115. d-TGA: 2-D Echocardiogram
ABB MD

116. d-TGA (Transposition) and
l-TGA (Congenitally Corrected Transposition)
Discordant atrioventricular
connection Discordant ventricular-arterial
connection
&
Discordant ventricular-arterial
connection
ABB MD

117. l-Transposition of Great Arteries
ABB MD

118. d-TGA: Medical Treatment
• Maintain ductus with PGE1 to promote pulmonary blood flow,
 left atrial pressure & promote left to right mixing at
atria
• Balloon atrial septostomy (Rashkind procedure) indicated
with severe hypoxemia
• Correct metabolic acidosis with fluids & NaHCO3
• O2 given to help lower pulmonary resistance & increase
pulmonary blood flow
• Mechanical ventilation may be necessary
• Digoxin and diuretics can beABB MD in failure
used

119. Rashkind Procedure: Balloon Atrial Septostomy
• Balloon-tipped catheter is threaded up into right atrium &
then across PFO to left atrium
• Balloon is blown up with radio-opaque dye
• Under echocardiographic or fluoroscopic guidance, balloon
is quickly drawn into right atrium, tearing atrial septum
ABB MD

120. d-TGA: Balloon Atrial Septostomy
(Rashkind Procedure)
ABB MD

121. d-TGA: Balloon Atrial Septostomy
(Rashkind Procedure)
ABB MD

122. d-TGA: Balloon Atrial Septostomy
(Rashkind Procedure)
Balloon rupture of IAS
RAP
LAP RAP
LAP
ABB MD

123. d-TGA: Balloon Atrial Septostomy
(Rashkind Procedure)
LAP
RAP LAP
RAP
ABB MD

124. d-TGA: Status Post Balloon Atrial Septostomy
(Rashkind Procedure)
ABB MD

125. d-TGA: Status Post Balloon Atrial Septostomy
(Rashkind Procedure)
ABB MD

126. d-Transposition of Great Arteries: Surgery
• Old surgical approach: ‘Atrial Switch’
– Mustard operation
– Senning operation
• New surgical approach: ‘Arterial Switch’
– Jatene operation
ABB MD

127. d-TGA: Atrial Switch (Mustard) Operation
versus Arterial Switch (Jatene) Operation
Mustard Operation Jatene Operation
(Atrial Switch) (Arterial Switch)
ABB MD

128. Mustard/Senning Procedure
• Also known as ‘atrial switch’
• Baffle is used to redirect flow from pulmonary veins
to right atrium & from SVC and IVC to left atrium
• In Mustard procedure, pericardial tissue or graft tissue is
used for baffle; in Senning procedure, atrial tissue is used
• Complications include obstruction of venous return, residual
intra-atrial shunt, loss of sinus rhythm, SVT, (supraventricular
arrhythmias, especially atrial flutter), and depressed systemic
ventricular function
ABB MD

129. Mustard Operation (Atrial Switch)
Preoperative Postoperative
state state
ABB MD

130. Mustard Operation (Atrial Switch)
ABB MD

131. Arterial Switch: Jatene Procedure
• Ideal procedure because it results in anatomic & physiologic
correction
• Great arteries are transected & connected to distal portion of
the opposite great artery
- Aorta connected to PA root so now LV to aorta & RV to PA
• Coronary arteries are transplanted into PA root
• Surgery should be done before age 4 weeks so LV pressure
remains systemic
• Complications: pulmonary stenosis; aortic insufficiency;
coronary artery obstruction
ABB MD

132. Arterial Switch: Jatene Procedure
ABB MD

133. Comparison of Outcomes: Atrial Switch
Senning versus Mustard Procedure
• Senning group (atrial tissue) has better survival than Mustard
(pericardium or graft tissue)
- 95% vs. 86% @ 5 yrs; 94% vs. 82% @ 10 yrs;
94% vs. 77% @ 15 yrs
• Late deaths in both group generally sudden with no preceding
ventricular dysfunction
• Major complications: 1) arrhythmias (34% in RSR @ 15 yrs);
RV dysfunction (52% with normal function at 15 years)
• Incidence of RV dysfunction increases rapidly after 10 yrs
ABB MD

134. Comparison of Outcomes: Arterial Switch
• 1 study group published data @ 3-9 yrs & then 8-14 yrs post
procedure
• @ 3-9 years:
– 96.1% had normal exercise tolerance; 93.5% were in RSR; 100%
had normal LV function; 10.4% had mild AI; 29.9%
supravalvular pulmonic stenosis
• @ 8-14 years
– 93.3% had normal exercise tolerance; 91.7% were in RSR; 100%
had normal LV function; mild AI seen in 13.3%; supravalvular
pulmonic stenosis in 41.6%
ABB MD

135. Rastelli Procedure
• Used in d-TGA with large VSD & severe pulmonic stenosis
– Can’t use pulmonary valve root for systemic outflow
• Redirection of pulmonary & systemic blood carried out at
ventricular level
• LV is directed to aorta by creating intraventricular tunnel
between VSD & aortic valve
• Conduit is placed between RV & PA
• Complications: conduit obstruction & complete AV block
• Conduit must be replaced as child grows
ABB MD

136. Rastelli Procedure
Used in d-TGA with large VSD & severe Pulmonic stenosis
when you can’t use pulmonary valve root for systemic outflow
ABB MD

137. d-TGA: Risk Factors for
Postoperative Ventricular Dysrhythmia
1) Poor RV or LV function
2) Diminished diastolic compliance
3) Increased systolic RV or LV pressure
4) Surgical ventriculotomy (scar)
5) Age @ time of surgery
6) Longer postoperative follow-up interval
ABB MD

138. Total Anomalous Pulmonary Venous Return
• 1% of congenital heart disease
• Classified as:
– Supracardiac (50%)
– Cardiac (20%)
– Infracardiac (subdiaphragmatic) (20%)
• If unobstructed, presents with mild to moderate cyanosis and
CHF at weeks to months
• If obstructed (infracardiac), presents early with severe cyanosis
• Small heart and/or ‘snowman in a snowstorm’ on CXR
ABB MD

139. TAPVR: Embryology
ABB MD

140. TAPVR Types
50% 20% 20%
ABB MD

141. TAPVR Types
ABB MD

142. Chest X-Ray in TAPVR
A) Snowman with supracardiac B) Obstructed infradiaphragmatic
A B
ABB MD

143. Total Anomalous Pulmonary Venous Return
ABB MD

144. Total Anomalous Pulmonary Venous Return:
Electrocardiogram
ABB MD

145. Total Anomalous Pulmonary Venous Return
Supradiaphragmatic TAPVR Infradiaphragmatic TAPVR
ABB MD

146. TAPVR: Supradiaphragmatic Type
Cardiac Catheterization Data
To SVC in Anterior View
To left SVC in Posterior View
ABB MD

147. TAPVR: Obstructed Infradiaphragmatic Type
Cardiac Catheterization Data
To IVC in Anterior View To IVC/HPV in Posterior View
ABB MD

148. Total Anomalous Pulmonary Venous Return
Subdiaphragmatic TAPVR with obstruction
ABB MD