This document discusses the management of critical congenital heart disease in newborns. It describes how prostaglandin E1 (PGE1) is used to maintain ductal patency until definitive treatment. PGE1 is started as a continuous IV infusion at a low dose and titrated to safely establish an open ductus arteriosus. This improves oxygen saturation while definitive diagnosis and treatment are determined. Potential side effects include apnea, hypotension, and hyperthermia, requiring close monitoring during PGE1 infusion. PGE1 therapy is currently standard care for ductal-dependent congenital heart defects until palliative or corrective surgery can be performed.

1. Seminar on
Critical Congenital
heart disease
Dr. Habibur Rahman Bhuiyan
Dr. Faria Yasmin
Resident, Year: 5, neonatology

2. Case scenario
B/O Shantona, term, inborn, admitted with the complaint of
antenatally diagnosed transposition of great vessels diagnosed by
Fetal echocardiogram at 30 weeks.
On arrival, baby was well alert and cyanosed, normothermic,
euglycemic, R/R 65/min, HR 142/min,well perfused, SpO2 45%.
On cardiovascular system examination 1st& 2nd heart sounds were
audible in all 4 areas, there was a systolic murmur in left upper sternal
border grade 3/6 with no radiation.
What should be management?

3. Outline of presentation
• Epidemiology
• Classification
• Clinical presentations
Critical congenital
heart diseases
• When to suspect critical
congenital heart disease in
newborn
• How to confirm
Diagnostic
approach
• Emergency management
• Palliative treatment
• Definitive treatment
Management

4. Critical congenital heart disease
Reference: Centre for Disease prevention & Control
Definition
Critical Congenital Heart Diseases are defined as cardiac lesions
requiring surgery or other catheter-based intervention in
infancy.
• The most critical Congenital Heart Diseases are usually symptomatic in
the newborn period.
• Typically, lead to low levels of oxygen in a newborn.
• Most critical congenital heart defects (CHD) are diagnosed prenatally or
May be suspected in the early neonatal period by routine pulse oximetry
screening.

5. What are the Critical congenital heart diseases?
• Depend on the flow via the ductus arteriosus
to maintain systemic circulation
Critically obstructed
left heart lesions
• Depend on flow via the ductus arteriosus to
maintain pulmonary circulation
Critically obstructed
right heart lesions
• Lesions where the systemic and pulmonary
circulations are separated so that mixing site
is needed
Parallel non-mixing
circulations
Reference: Cloherty & Stark’s Manual of Neonatal care, 9th edition A comprehensive approach to CHD, 1st edition

6. • that diverts about 80 to 90 percent
of the right ventricular output
• The DA is a large vessel in the
fetus and its size is equal to the
main pulmonary artery (MPA) and
the descending aorta.
Fetal circulation
The ductus arteriosus (DA)

7. Sequences of duct dependant CHD

8. Duct-dependent
systemic
circulations
• Critical aortic
stenosis
• Coarctation of the
aorta
• Interruption of
aortic arch
• Hypoplastic left
heart syndrome
Duct-dependent
pulmonary
circulations
• Pulmonary atresia
Critical pulmonary
stenosis
• Tricuspid atresia
• Tetralogy of Fallot
• Ebstein’s anomaly
Parallel non-
mixing circulation
• Transposition of
great arteries
Critical congenital heart diseases
Other
• Total anomalous
pulmonary venous
connection
(TAPVC)
• Double outlet right
ventricle
• Single ventricle
• Truncus arteriosus

9. Epidemiology
Reference: Centre for Disease prevention & Control
• Structural CHD occurs in approximately 8/1000 live births.
• About 1 in every 4 babies born with a heart defect has a
critical congenital heart defect
• In the United States, about 7,200 babies born every year have
critical CHDs.
• For patients with critical congenital heart disease neonatal
mortality is as high as 7%.
• Regarding Bangladesh there is paucity of specific data.

10. van der Linde D, Konings EE, Slager MA, et al. Birth prevalence of congenital heart disease worldwide: a
systematic review and meta-analysis. J Am Coll Cardiol. 2011;58(21):2241- 2247.
(Systematic review and meta-analysis; 114 studies)
Prevalances of common cardiac diseases

11. Diagnosis of critical congenital heart diseases
Critical CHD Antenatal diagnosis Ultrasonography
Fetal echocardiography
Postnatal diagnosis Clinical suspision:
History, Examination
Screening
Chest X-ray
Echocardiography

12. Results:
• A total of 1773935 perinatal newborns were screened in Beijing
• 1851 newborns were diagnosed with CCHD, showing a prevalence of 10.43
per 10 000.
• Majority (1692 of 1851; 91.41%) were identified through prenatal
diagnosis,
• 104 of 1851 (5.62%) were diagnosed before discharge/transfer and
• 55 of 1851 (2.97%) were identified through delayed diagnosis.
Journal of International
Medical Research,
49(7) 1–10
Published online: 7
June 2021

13. Antenatal diagnosis: Indications of Fetal Echocardiography
Fetus related indications
• Suspected congenital
heart disease on
screening
ultrasonography
• Fetal chromosomal
anomaly
• Fetal extracardiac
anatomic anomaly
• Fetal cardiac
arrhythmia
• Nonimmune hydrops
fetalis
Mother-related
indications
• Congenital heart
disease
• Maternal metabolic
disease
• Maternal rheumatic
disease (e.g. SLE)
• Maternal
environmental
exposures, Alcohol
• Cardiac teratogenic
medications
• Maternal viral infection
Family-related
indications
• Previous child or
parent with congenital
heart disease
• Previous child or
parent with genetic
disease associated with
congenital heart
disease

14. Postnatal evaluation: when to suspect?
Presence of
cyanosis
Unexplained
shock, acidosis
Features of
heart failure
Presence of
murmur
Arrhythmia
Reference: Cloherty & Stark’s Manual of Neonatal care, 9th edition

15. Evaluation
General examination
• General appearance
• Color
• Vital Signs Heart rate,
Respiratory rate,
Blood pressure,
temperature.
• weight and nutrition
• Pulse oximetry
• Features of heart
failure, shock
• Association with
chromosomal
abnormality
Cardiovascular system
examination
• Examination of
precordium:
inspection, palpation,
Auscultation
• Examination of
peripheral pulses
• Four extremity blood
pressure
Other systemic
examination
• Other systemic
examinations
• Associated
malformations

16. Evaluation
• Pulse oximetry screening
• Hyperoxia test
Screening test
• Arterial blood gas analysis
• Chest x-ray
• Electrocardiogram
• Routine investigations: for management
purpose
Other
Investigations
• Echocardiography
• Cardiac catheterization: both
diagnostic & interventional
Confirmatory

17. Pulse Oximetry Screening (POxS)
• Universal new born screening with pulse oximetry improves the
identification of patients with critical CHD compared with physical
examination alone
• Screening should be performed after 24 hours of life or as late as possible
if early discharge is planned.
• Oxygen saturation (SpO2) should be measured in the right hand (pre-
ductal) and either foot (post-ductal).

18. Pulse Oximetry Screening
Reference: AIIMS protocols in Neonatology, 2nd edition
screen positive or neonate is declared failed if-
• Saturation is less than 90% in any one extremity, or
• Saturation is less than 95% in both extremities, or
• An absolute saturation difference of >3% between right hand
and foot on three separate measurements taken 1 hour apart

20. • The overall sensitivity of pulse oximetry for detection of critical congenital
heart defects was 76·5%
• The specificity was 99·9%
• The false-positive rate was particularly low when done after 24 h from birth
• Pulse oximetry is highly specific for detection of critical congenital
heart defects with moderate sensitivity, that meets criteria for
universal screening.
ARTICLES| VOLUME 379, ISSUE 9835, P2459-2464, JUNE 30, 2012

21. Hyperoxia test
• Right radial ABG in air and after 10 min of 100% O2
• Done to differentiate cyanosis caused by congenital heart disease
from pulmonary and other causes of cyanosis.
Procedure
• PaO2 > 300 mmHg : Excludes Cyanotic CHD
• PaO2 > 200 mmHg : Unlikely to be Cyanotic CHD
• (NB : False Negative in TAPVR-Unobstructed)
• PaO2 < 100 mmHg : Likely to be Cyanotic CHD
Interpretation
• Easy availability of echocardiography in addition to difficult
performance and complex interpretation of hyperoxia test
has made this test irrelevant now.
Use
Nearly normal SpO2, with oxygen supplementation by nasal prongs,
mask or hood practically rules out significant cyanotic CHD.

22. Chest X-ray
Heart shadow
• Heart size - normal
or enlarged
• Shape of the heart
(silhouette),
• Cardiac chambers
and great vessels:
informative
Decreased
pulmonary vascular
markings
• TOF, pulmonary
atresia/stenosis,
tricuspid atresia,
Ebstein anomaly
Increased
pulmonary
arterial markings
• Truncus arteriosus,
• single ventricle
• total anomalous
pulmonary venous
connection without
obstruction, and
• TGA
Increased venous
markings (venous
congestion)
• Hypoplastic left heart
syndrome and
• Total anomalous
pulmonary venous
return
Figure: Algorithm for interpretation of chest X-ray to classify CHD

23. Chest X-ray algorithm

24. Electrocardiography
• Right ventricular dominance is characteristic of a normal
neonatal ECG. Unreliable tool, if used in isolation.
• The cornerstone for the diagnosis of rhythm abnormalities.
• Characteristic ECG patterns point to specific cardiac
malformation.

25. Echocardiography
Definitive diagnostic modality for structural heart
disease.
Windows commonly used- Apical 4 chamber,
parasternal long and short axis, suprasternal,
sub-clavicular and subcostal.
Should be done as soon as possible in any suspected
critical congenital heart disease

26. Tetralogy of Fallot
Most common cyanotic
CHD, about 10% of all
CHD.
• pulmonary stenosis
• right ventricular
hypertrophy
• ventricular septal
defect
• Over riding of aorta

27. Tetralogy of Fallot
Boot shaped heart
Oligaemic lung field

29. Tricuspid atresia
RV is small and nonfunctional
(hypoplastic)
All systemic venous return
must cross the atrial septum
into the left atrium.
PDA, ASD and VSD are
necessary

30. Tricuspid atresia: Left ventricular hypertrophy with left axis deviation

32. • Enlarged heart, Oligemic lung field
Pulmonary atresia

33. Truncus arteriosus

34. double outlet right ventricle
• Conotruncal anomaly, both the great
vessels arise from the right ventricle.
• It is associated with VSD
• In DORV with Sub-pulmonic VSD,
blood from LV flows to the
pulmonary artery, blood from RA to
RV flows to the aorta
• Taussig – Bing anomaly

35. Echocardiogram in parasternal long axis view showing the conotruncal ventricular septal defect (marked with
interrupted arrow) (marked with two solid arrows) resulting in aorto-mitral discontinuity.
double outlet right ventricle

36. Ebstein Anomaly
• Displacement of abnormal tricuspid
valve into right ventricle
• Anterior cusp retains some attachment
to the valve ring
• Other leaflets are adherent to the
valve of the right ventricle

37. Ebstein anomaly x ray in neonate

38. Ebstein’s anomaly:
Poly-phasic QRS complexes with tall ‘Himalayan’ P wave

40. Transposition of the great arteries (TGA)
• 5% of CHD
• the most common
cyanotic CHD in
newborn period
• Naturally occurring
associated anomalies
that cause mixing:
• VSD
• ASD
• PDA

41. Transposition of Great Arteries-
Pulmonary plethora
narrow mediastinum
egg on a string appearance

43. Total Anomalous Pulmonary Venous Return
• 1% of CHD

44. TAPVR- figure of 8, Snowman sign
Typical cardiac shadow - Rarely seen in neonatal period

45. Hypoplastic Left Heart Syndrome
• Relatively common lesion
present in 1st week of life
• 3% of all CHD
• The syndrome consists of
different degrees of hypoplasia
of LA, LV aorta with stenosis or
atresia of the aortic and mitral
valve.

47. Norwood procedure Glen procedure Fontan procedure

48. Coarctation of aorta
Balloon angioplasty and stenting.

49. Obstetrician
Neonatologists
Pediatric
cardiologists
Interventional
cardiologists
Cardiac
surgeon
Pediatrician

50. Management of suspected critical congenital heart disease
Lesion specific care following anatomic confirmation
Cardiac catheterization
Diagnostic confirmation
Maintenance of ductal patency: Prostaglandin E1 infusion
Initial resuscitation

51. Initial resuscitation
• Maintenance of thermo-neutral
environment
Temperature
• Securing airway & Adequate ventilation
• Target saturation 75%-85%;
• SpO2<70% or tissue hypoxia & lactic acidosis: urgent
percutaneous or surgical intervention.
Airway &
breathing
• Vascular access & adequate hydration
• Management of shock; volume resuscitation,
ionotropic support
Circulation
• Correction of metabolic acidosis
• Adequate nutrition
Other supportive

52. Target ABG analysis in Hypoplastic Left Heart
Syndrome
pH 7.25-7.35
PaO2 35-45 mmHg
PaCO2 35-45 mmHg
Target saturation 75%-85%
[Ref: A comprehensive approach to CHD, 1st
edition]

53. Prostaglandin E1
• Rarely, a patient’s clinical status may worsen after beginning
PGE1
• Term neonate with shock or a newborn with cyanosis not
responding to 100% oxygen (chest x-ray not suggestive of
lung disease) must be started on PGE1.
• In right-sided obstructive lesions, the improvement in
saturation will occur within 30 minutes (may not reach
90%). Recovery of a left-sided obstruction is slow to PGE1
(can take 24 hours) therapy and is often not complete.

54. Prostaglandin E1
Indication To establish and maintain an open ductus arteriosus as a crucial part of the resuscitation
of newborn who have a clinical suspicion for a duct-dependent congenital heart defect
Should be given until a definitive diagnosis or treatment is established
Administration
It should be given as a continuous intravenous infusion.
Starting Dose:0.05-0.1 µgm/kg/min, maintenance: 0.002-0.05 µgm/kg/min
Available preparation: 500 µgm/1 ml
Titrate a safe & effective dose & continue until palliative shunt/ definitive surgery
Monitoring Re-measure arterial blood gases and reassess perfusion, vital signs, and
acid–base status within 15 to 30 minutes of starting a PGE1 infusion.
Monitor for complications

55. There is insufficient evidence from randomized controlled trials to recommend or
refute the use of prostaglandin E1 in the safe and effective treatment of ductal-
dependent congenital heart disease.
Evidence from non-randomized studies has informed clinical practice and
currently prostaglandin E1 is considered the standard of care in neonates
with ductal-dependent congenital cardiac disease.

56. Side effects of prostaglandin E1:
• In 10-12% of neonates, usually within 6 hours, dose dependent.
• Secure airway & continuous cardiorespiratory monitoring
Apnea
• Separate IV line for volume administration should be maintained
hypotension
• In pre-term with prolonged & higher dose
• Feeding may be withheld immediately after starting PGE1
infusion
• Resumed once stable gastrointestinal status
Necrotizing enterocolitis
• Hyperthermia (10-14%)
• Flushing, edema
• Convulsion (4%) , diarrhea, Gastric Outlet Obstruction, others
Others

57. • The mean age of starting PGE1 treatment was 2.06 days
• Before PEG1 initiation the mean initial SpO2 was 77.89 and mean initial
oxygen pressure (PaO2) was 26.96 mmHg.
• At the point when stable wide open PDA was achieved their mean SpO2
increased to 89.73 % and PaO2 rose to 49
• During PGE1 treatment, eleven infants (16.7%) had apnea attacks, five
children (7.5%) had convulsions, 33 (50%) had fever, 47 (71.2%) had
leukocytosis, 52 (78.8%) had edema, 25.8% had gastrointestinal
intolerance, 45.5% had hypokalemia, and 63.6% had irritability.

58. Results. The study evaluated 42 infants. No significant side effects of
aminophylline were seen. Infants receiving aminophylline (n 21) were less likely
to have apnea (2 vs 11) or be intubated for apnea (0 vs 6). Length of
postoperative stay and survival to discharge were similar between the 2 groups.
Conclusions. Aminophylline was effective for the prevention of apnea and
intubation for apnea associated with PGE1 in infants with ductal-
dependent congenital heart disease.

59. Percutaneous or surgical intervention for immediate stabilization
• If Severe hypoxemia or heart failure persists
despite medical stabilization
Indication
• PC-Balloon atrial septostomy in TGA to enlarge ASD
• PC-PDA stenting in TOF or other PDA dependent
pulmonary circulation
• PC-Balloon dilatation of critical Aortic or pulmonary
stenosis
Percutaneous
interventions
• Surgical aorto-pulmonary shunt (B-T shunt) in TOF
• Obstructed TAPVC
Surgical
interventions

60. Definitive management
• Correction of lesion
• Open cardiac surgery requiring cardiopulmonary bypass is
used for intra-cardiac repair (arterial switch for repair of
TGA, repair of TAPVR.
• Staged palliative surgery for HLHS.
• Closed cardiac surgery in TOF.
• Neonatal primary correction-TGA, TAPVR

61. Other aspects of management
Fetal cardiac interventions
Appropriate referral when
needed
Management during transport

62. • One-year survival was 75.2% for those with CCHDs (n = 1336)
• One-year survival for infants with CCHDs improved from 67.4% to 82.5%
• One-year survival was 71.7% for infants with CCHDs diagnosed at ≤1 day of
age (n = 890) vs 82.5% for those with CCHDs diagnosed at >1 day of age (n =
405; P < 0.001).

63. Nutrition of baby with critical congenital
heart disease
• Complex cardiac anomalies require personalized regimens.
• The daily caloric intake should be up to 50% higher, but
without exceeding 150 mL/kg/day liquid volume,
• Parenteral nutrition can be total or partial, depending on the
newborn’s ability to tolerate enteral feeding.
• Macronutrients, vitamins, and electrolytes administration require
great care

64. Prognosis
The prognosis depends on the type of cardiac lesion:
• TGA with modern newborn care, the 1-year survival rate is 90%
• TOF with pulmonary atresia-mortality is as high as 50%
• Tricuspid atresia-Fontan circulation with operative mortality in
childhood <10% and a 75% 15-year good-quality survival
• TAPVC-Mortality <10% and excellent long-term outlook.
• Ebstein anomaly-not good
• Truncus arteriosus- surgical mortality is high
Reference: Rennie and Roberton´s,Textbook of Neonatology ,Fifth edition

65. Follow up:
• Growth and development
• Features of heart failure
• Complication
• Follow up after surgery

66. Key Messages
Early diagnosis
• Prompt
recognition and
treatment of
critical
congenital heart
disease can be
lifesaving.
Early management
• Most forms of
critical CHD in
the neonate can
be offered an
effective form
of surgical or
catheter-based
treatment with
excellent
outcomes.
Screening is must
• Prenatal diagnosis
and routine
neonatal pulse
oximetry screening
before discharge
permit early
diagnosis of critical
CHD and contribute
to improved
outcomes after
treatment.

67. Thank you
Thank You

68. CCHD associated with chromosomal abnormalities