2. Case Scenario
History
• 4 weeks old male
• Gets bluish after feeding or crying
• Previously well, full-term baby
• The family history was negative
3. Case Scenario (Contd.)
Physical
• Vigorous male, growing appropriately
• HR= 135, RR= 30, normal BP, no fever
• Lungs clear to auscultation b/l, no
wheezes, rhonchi, rales
• Purplish lips, hands and feet
• Grade III/VI systolic murmur loudest at
lower left sternal border
• Liver was 1.5cm below right costal margin
and a normal spleen
• Peripheral pulses equal in upper/lower
extremities, cap refill time < 3sec
4. Case Scenario (Contd.)
Workup
• PaO2 of 38mm Hg and a hyperoxia test
showed increase to 48mm Hg
• Electrocardiogram showed RVH
10. Cyanosis in Newborn
• It is the bluish colouration of
skin and mucous membrane
due to increased
deoxygenated haemoglobin
in blood.
• Cyanosis becomes visible
when there is >3-5g/dl of
deoxygenated haemoglobin.
- T. L . Gomella, 2013
11. Why Cyanosis Develops?
• The degree of cyanosis depends on both oxygen
saturation and haemoglobin concentration.
• Cyanosis can be a sign of severe cardiac, respiratory
or neurologic compromise.
• Cyanosis can also be caused by a reduced blood
oxygen – carrying capacity secondary to an abnormal
form of hemoglobin such as methemoglobinemia.
12. Causes of Cyanosis in Newborn
A. Respiratory Diseases:
i. Parenchymal:
• Transient Tachypnea of Newborn (TTN)
• Hyaline membrane Disease (HMD)
• Aspiration - Meconium, blood, mucus or
milk
• Pneumonia
• Pulmonary
– Haemorrhage
– Edema
13. Causes of Cyanosis in New-born
(Contd.)
ii. Non-Parenchymal:
• Airway obstruction
– mucous plug
– choanal atresia
• External compression of the lungs
– any air leaks
– pleural effusion
• Congenital defects
– congenital diaphragmatic hernia
– hypoplastic lung
– adenomatoid malformation
– diaphragm abnormality
14. Causes of Cyanosis in Newborn
(Contd.)
B. Cardiac causes:
• Transposition of Great Arteries (TGA)
• Tetralogy of Fallot (TOF)
• Total Anomalous Pulmonary Venous
Return (TAPVR)
• Truncus arteriosus
• Tricuspid atresia
• Ebstien’s anomaly
• Single ventricle
• Hypoplastic Left Heart
• Double outlet right ventricle
• Persistent Pul HTN of Newborn (PPHN)
FiveTs
15. Causes of Cyanosis in New-born (Contd.)
C. CNS cause:
• Hypoxic Ischemic Encephalopathy
• Congenital Hydrocephalus
• Seizure
• Periventricular-intraventricular
hemorrhage
D. Miscellaneous:
• Methemoglobinemia
• Polycythemia
• Hypothermia
• Hypoglycemia
• Sepsis
16. Making the diagnosis
Immediate Questions:
• Does the infant have respiratory distress?
• Does the infant have a murmur?
• Was the infant cyanotic at birth?
• Is the cyanosis continuous, intermittent,
cyclical, sudden in onset, or occurring only
with feeding or crying?
17. Making the diagnosis (Contd.)
• Has the baby had the recommended pulse
oximetry screening for CHD?
• Is there differential cyanosis?
• What is the prenatal & delivery history?
18. Diagnosis
• After through history and
physical examination,
investigations according to
suspicion.
• Treatment according to
cause.
20. Epidemiology of Congenital Heart
Diseases
• Structural Congenital Heart Disease is 6-8 per 1000
live births
• Major cause of death during 1st year of life after
prematurity (3/1000 live births)
- John P. Cloherty, Manual of Neonatal Care: 7th Edition
• Congenital heart defects account for 27% of infant
deaths worldwide.
- American Heart association Update, 2013
21. Estimated causes of neonatal mortality around
the year 2010 in Bangladesh
Data source: Bangladesh-specific mortality estimates (Liu et al. 2012).
23. Etiology of CHD
Factors associated with
increased incidence:
High risk of CHD in children:
Prenatal factors: Genetic factors:
• Maternal rubella
• Radiation
• Alcoholism
• Age >40 yrs
• Insulin dependent
diabetes
• Fetal intra uterine
cardiac viral disease
• A sibling with a heart
defect
• A parent with CHD
• Chromosomal
aberration e.g. Down’s
syndrome
• Born with other
congenital anomalies
25. Relevant Clues From History For CHD
Family History:
The presence of a congenital heart lesion in a first-degree
relative can have considerable diagnostic relevance. The
recurrence rate in a first-degree relative is 1% to 4%. If
there are two affected first-degree relatives, the
recurrence rate is 3% to 12%.
E.g. ventricular septal defect, patent ductus arteriosus,
atrial septal defect, and tetralogy of Fallot
- Arthur J Mos. 1992
26. History
Maternal & Perinatal History-
• Maternal DM (Ventricular septal
hypertrophy)
• Maternal Rubella (PDA)
• Maternal exposure to alcohol or drugs
27. Physical Examination
• Dysmorphic face (Trisomies 13, 18, 21)
• Colour- Pallor or cyanosis
• Signs of respiratory distress like tachypnea, chest
indrawing
• Poor perfusions
• Pulse volume- bounding (PDA) or Diminished pulses
in the lower extremities (COA)
• Blood pressure is ≥10 mmHg in arms than legs in COA
28. Physical Examination (Contd.)
• Abnormal heart rate (may be high or low than
normal)
• Abnormal precordial activity (Dextrocardia,
cardiac enlargement, ventricular impulse)
• Abnormal S2 splitting
• A single S2 occurs-
– Aortic atresia
– Pulmonary atresia (PA)
– Truncus arteriosus (TAC)
– Severe pulmonary stenosis (PS)
29. Physical Examination (Contd.)
• Abnormal extra heart sounds (gallop, pericardial
friction rub)
• Pathologic murmurs (should be distinguished from
innocent murmur)
• Hepatomegaly
• Extracardiac abnormalities
30. Diagnostic Tools
• Chest X-ray
• Electrocardiogram
• Echocardiogram
• Arterial Blood Gas
• Hyperoxia test
• Pulse oxymetry
33. Complete Transposition of the Great
Arteries
• 5% of all CHD
• Male: Female = 3:1
• Most common cyanotic condition that
requires hospitalization in the first two
weeks of life
• Aorta arises from the right ventricle
• Pulmonary artery arises from the left
ventricle
• Defect to permit mixing of two
circulations- ASD, VSD, PDA.
• VSD is present in 50% of cases, necessary
for survival
36. Clinical Symptoms
No mixing lesion and restrictive PFO
• Profound hypoxia
• Rapid deterioration
• Death in first hours of life
• Absent respiratory symptoms or limited to
tachypnea
• Single second heart sound, no murmurs
37. Clinical Symptoms (Contd.)
Mixing lesion present (VSD or large PDA)
• Large vigorous infant
• Cyanotic
• Little to no respiratory distress
• Most likely to develop CHF in first 3-4
months of life
38. Diagnosis
CXR
• Egg shaped cardiac silhouette
• Narrow superior mediastinum
ECG
• Normal or RVH
Echocardiography
• Transposed ventricular & arterial
connection
40. Management
• Prostaglandin to establish patency of the
ductus arteriosus
• Therapeutic balloon atrial septostomy
(Rashkind Procedure) if surgery is not
going to be performed immediately
• Improves mixing and pulmonary venous
return at the atrial level
• Definitive Surgery:
– Arterial switch operation (Jatene) - usually
within first 2 weeks
– Mustard operation
42. Tricuspid Atresia (Contd.)
• Represents about 2% of structural heart
lesion
• Tricuspid valve fails to develop
• Hypoplasia of right heart
• Venous blood from right atrium depends
on open ASD or PFO, VSD, PDA
44. Tricuspid Atresia (Contd.)
Clinical Findings
• Cyanosis at birth
• Single S2
• Systolic murmur along left lower sternal
border
Diagnosis
• Chest X-Ray: Oligemic lung fields
45. Tricuspid Atresia (Contd.)
• ECG
– Left axis deviation
– Reveals left ventricular hypertrophy
• Echocardiography
– Absence of tricuspid valve
46. Tricuspid Atresia: Tx
• PGE1 administration necessary
• Rashkind Balloon atrial septostomy
• Pulmonary artery banding
• Glenn shunt
Superior and inferior vena cava are connected
directly to the pulmonary arteries - Between 3-6
month
• Fontan procedure
Anastomosis between Right atrium &
pulmonary artery - Between 1.5 – 3 year of age
49. Truncus Arteriosus (Contd.)
• Failure of primitive truncus arteriosus to
divide into aorta and pulmonary Artery
• It constitute 1% of CHD
• VSD almost always present
• 4 types: According to arise of Pulmonary
Artery from common trunk
51. Truncus Arteriosus (Contd.)
Clinical Findings:
• Minimal cyanosis at birth
• Congestive Heart failure develops in 2-3
weeks
• Bounding pulses, pulse pressure widened
• Loud, single S2
• Systolic murmur heard at left sternal border
Diagnosis:
• ECG reveals biventricular hypertrophy
• Echocardiography:
• Demonstrates the large truncal artery
overriding the VSD and the pattern of origin of
the branch pulmonary arteries
54. Truncus Arteriosus: Tx
Surgical repair (Rastelli repair)
• At 2 to 3 months of age
• Closing VSD
• Separation of pulmonary arteries from
truncus
• Placing conduit between right ventricle
and pulmonary arteries
56. Tetralogy of Fallot (Contd.)
• Constitute 10% of CHD
• Only 20% of TOF are cyanotic at neonatal
period
• Variable Degree of Pulmonary stenosis and
size of VSD determine present degree of
Cyanosis
58. Tetralogy of Fallot (Contd.)
Pathophysiology:
Increased resistance by the pulmonary stenosis
causes deoxygenated systemic venous return to be
diverted from RV, through VSD to the overriding aorta
and systemic circulation systemic hypoxemia and
cyanosis
61. Tetralogy of Fallot (Contd.)
Symptoms:
• Dyspnea on exertion or when crying
• Tet spells: irritability, cyanosis,
hyperventilation and sometimes syncope
or convulsions due to cerebral hypoxemia.
62. Tetralogy of Fallot (Contd.)
Patients learn to alleviate symptoms by squatting which
increases systemic resistance and decreases the right-to-
left shunt and directs more blood to the pulmonary
circulation.
64. Tetralogy of Fallot (Contd.)
Physical exam:
• Clubbing of the fingers and toes
• Single S2
• Systolic ejection murmur heard at the
upper left sternal border
Lab Studies:
• CXR: prominent RV
• ECG: RVH, right axis deviation
• ECHO: displays and quantifies extent of RV
outflow tract obstruction
66. Tetralogy of Fallot (Contd.)
Complication:
• Hyper cyanotic spell
• Severe Polycythemia
• Cerebral thrombosis
• Cerebral abscess
• Infective endocarditis
• Heart failure
• Delayed growth, development and
puberty
67. Tetralogy of Fallot (Contd.)
Management:
• Correction of acidosis
• IV infusion of Prostaglandin E1 followed by
palliative surgery
• Correction of anemia by iron therapy
• Correction of dehydration.
• Treatment of cyanotic spell
• Treatment of polycythemia: Blood may be
replaced by plasma, dextran or saline after
phlebotomy.
• Prophylactic antibiotic
68. Cyanotic Spell - Treatment
• Knee chest position
• Oxygen inhalation
• Morphine: 50-100 µg/kg (sc, im, iv)
• Propranolol: 20 µg/kg iv
• Phenylephrine: 20 µg/kg iv
• Heavy sedation/anesthesia
• Assisted Ventilation
69. Definitive surgical
Palliative shunt
procedure
Modified Ballot-
Taussing (Gore-
Tex interposing)
shunt
Between the
subclavian artery
and ipsilateral
pulmonary artery
Complete surgical
repair
Patch closure of
the VSD
Widening of the
RVOT
Pulmonary
valvectomy
72. Pathophysiology
• The pulmonary veins drain into the RA or
its venous tributaries rather than the LA
• A interatrial communication (ASD or PFO)
is necessary for survival
• Systemic and pulmonary venous blood are
completely mixed thus produces cyanosis
73. Types of TAPVR
• Supracardiac (50%): Common pulmonary
vein drains into the SVC via vertical vein
• Cardiac(25%): The common PV drains into
the right atrium and/or the coronary sinus
• Infracardiac(20%): The common PV drains
into the IVC or one of its major tributaries
often via ductus venosus
• Mixed(5%)
74. Features
Unobstructed PVR
• Mild to moderate desaturation, signs of
CHF
• Systolic murmur heard at the LSB
Obstructed PVR
• Severe cyanosis
• Respiratory distress
• Infants are severely ill
• Fail to respond to mechanical ventilation
88. Clinical Feature
• Cyanosis
• Poor peripheral perfusion
• The first heart sound is normal
• The second heart sound is single & loud
• A systolic ejection murmur
89. Diagnosis (Contd.)
Chest radiography:
• With pulmonary stenosis, the cardiac
silhouette is normal to mildly enlarged.
Pulmonary vascularity is not increased.
• With arch obstruction, the cardiac
silhouette is usually at least mildly
enlarged. Pulmonary vascularity usually is
increased.
91. Treatment
Surgery:
• If pulmonary stenosis is severe, a Blalock-
Taussing aortopulmonary shunt
• If pulmonary blood flow is unrestricted,
pulmonary arterial banding
• The bidirectional Glenn shunt followed by
a modified Fontan operation
• If sub-aortic stenosis anastomosing the
proximal pulmonary artery to the side of
the ascending aorta (Damus-Stansel Kaye
operation).
94. Pathophysiology
• Both great arteries arise from the right
ventricle in association with a nonrestrictive
VSD.
• Left-to-right shunting across the VSD results in
pulmonary over circulation, pulmonary
hypertension, and congestive heart failure.
• Pulmonary stenosis results in right-to-left
shunting and cyanosis.
95. Symptoms
• Baby tires easily, especially when feeding
• Cyanosis
• Congestive heart failure
• Single S2
• Systolic murmur
96. Diagnosis
Chest X-Ray
• DORV without PS
– Cardiomegaly
– plethora
• DORV with PS
– Heart is normal
– pulmonary vascular is oligemic
97. Diagnosis (Contd.)
ECG
Right axis deviation with Right, Left or bi ventricular
hypertrophy
Echo
The location and size of VSD
The position of aorta and pulmonary artery out from
ventricle
101. Pathophysiology
• Downward displacement of an abnormal
tricuspid valve into the right ventricle
• Right ventricle divided into 2 parts -
Arterialized part & normal ventricular
myocardium
• Functional pulmonary atresia
103. Diagnosis
• CXR: Cardiomegaly with huge RA
• ECG: Right bundle branch block, tall p
wave, prolonged PR interval
• ECHO: Displacement of tricuspid valve,
dilated Right atrium, Right ventricular
outflow tract obstruction
105. Treatment
• Neonate with severe hypoxemia: PGE1
• Starness procedure : Surgical patch closure
of tricuspid valve, atrial septectomy,
placement of a aortopulmonary shunt
• Glenn shunt
• Fontan operation
106. Take Home Message
Cyanotic Congenital heart disease in the newborn is a
unique and complex problem faced by both
neonatologists and cardiologists as it requires skilful
handling and balancing of both neonatal issues as well as
cardiac physiology. So rapid diagnosis and appropriate
management is the key to reduce mortality and
morbidity in this delicate newborn population.