Cyanotic Congenital
Heart Diseases
Dr. Vasana Kiridana
Department of Paediatrics
Objectives
• Cyanosis (cardiac/ respiratory)
• Cyanotic congenital heart diseases
– Types
– Clinical presentation
– Evaluation
– Management
– Complications
Cyanosis
• Can be recognized if reduced Hb is > 5 g/dl.
• Central cyanosis in a neonate may be caused by
- Cyanotic heart diseases
- Persistent foetal circulation
- Respiratory causes
Pulse oximetry screening
• Clinical detection of cyanosis is unreliable
• Oxygen saturation < 94% in air
• Difference over 2-3% between pre and post
ductal saturation
• Specificity > 99%
Lancet 2011; 378:785-94
Causes of cyanosis in a newborn baby
Hyperoxia test
Cardiac cyanosis can be distinguished from respiratory
cyanosis using Hyperoxia Test.
• 100% Oxygen is administered for 10 min.
• Arterial blood gas performed before & after the test
• Cyanotic HD likely: PaO2< 113mmHg
• Cyanotic HD unlikely: PaO2> 150mmHg
Cardiac cyanosis
Cardiac cyanosis is due to either,
1. Reduced pulmonary artery blood flow
2. Intra cardiac mixing of systemic & pulmonary
blood
Abnormal Mixing of Blood
Usually present early (0 – 24 hrs)
➢ Transposition of great arteries (TGA)
➢ Total anomalous pulmonary venous drainage (TAPVD)
Timing of Presentation
• Early - TGA, TAPVD
• Intermediate - Pulmonary Stenosis,
Pulmonary Atresia, Tricuspid
Atresia
• Late - Tetralogy of Fallot
Transposition of Great Arteries (TGA)
• Commonest cyanotic
CHD at birth
• 4 – 5% of all CHD
• More in males
• Survival depends on
the presence of left-to-
right shunt and ductus
arteriosus
TGA – Clinical Features
• Cyanosis at birth
• worsens over 1-3 days as ductus closes
• Hyperoxia test failed
• Presentation could be slightly delayed if an ASD/
VSD is present
• Murmur +
TGA – Chest X Ray
Pulmonary plethora
Narrow upper mediastinum
egg on a side” appearance
TGA – Chest X Ray
TGA - Management
Temporary life saving measures:
• Prostaglandin infusion to keep the ductal patency
(commence on clinical suspicion)
• Balloon atrial septostomy to open the foramen ovale
TGA -Surgical Correction
• Arterial switch operation
▪ Should be performed early (neonatal period)
▪ Within the first 2 weeks of life
▪ Before the pulmonary vascular resistance falls
(LV muscle mass fails to develop)
▪ Early mortality < 2 %
▪ 10-year survival is 94 %
Total Anomalous Pulmonary Venous
Drainage (TAPVD)
TAPVD - Types
Supracardiac Cardiac Infracardiac
TAPVD………
• Mixed blood in R/atrium
Foramen ovale/
ASD
• Left atrium
• Left ventricle
TAPVD - Presentation
• Depends on the presence of obstruction
• Infracardiac type is almost always obstructed
• Presentation is early with cyanosis and respiratory
distress
• Supracardiac & cardiac types are usually non-
obstructed
• Presentation is intermediate / late with heart failure,
when the pulmonary vascular resistance falls
CXR- Snowman Appearance
TAPVD - Management
• Prostaglandin therapy is not helpful
• Ventilatory / circulatory support and correct acidosis
• Corrective surgery is done urgently
- 7 % overall mortality
– - 11 % develop later pulmonary vein stenosis
Truncus arteriosus
• Common arterial trunk
supplies systemic,
pulmonary and coronary
circulations
• Common truncal valve
• VSD is always present
• Truncus overrides the VSD
• RV & LV at the same
pressure
Truncus arteriosus
• Symptoms due to
increased pulmonary
blood flow
• Early development of
Eisenmenger
syndrome
• Early surgery
Cyanosis due to obstruction of
pulmonary blood flow
• Tetralogy of Fallot
• Pulmonary atresia/ stenosis
• Tricuspid atresia
• Ebstein anomaly
Tetralogy of Fallot (ToF)
Tetralogy of Fallot ctd.
Other associated lesions:
• Double outlet right ventricle
• R/S aortic arch
• ASD,PDA
Associated with
• Down syndrome (ToF + AVSD)
• Di George syndrome
ToF – Clinical Features
Early presentation
Neonate with severe obstruction
- marked cyanosis
- duct dependant pulmonary circulation
Late presentation: Infants
- asymptomatic murmur
- minimal cyanosis
ToF – Clinical Features ctd.
With increasing R/V outflow obstruction
Cyanosis / clubbing
RVH (palpable heave)
Single 2nd heart sound
Long loud ejection systolic murmur of PS
- left 3rd intercostal space
• Characteristic squatting posture
Tetralogy of Fallot
ECG
ToF- Chest X Ray
Boot shaped heart
Oligaemic lung fields
Pulmonary artery bay
Normal size heart Uptilted apex
ToF – Chest X Ray –Boot shaped heart
ToF – Other Investigations
➢ Echocardiography
➢ Doppler
➢ Cardiac catheterization
ToF - Management
Palliative procedures
1. Balloon dilatation of right ventricular outflow tract
2. Modified Blalock – Taussig shunt
- conduit between pulmonary and subclavian
arteries
ToF- Management
• Definitive surgery
- performed in first year of life
- operative risk 2 – 5 %
- 20-year survival > 90 %
- require close follow-up & endocarditis
prophylaxis
Complications of cyanotic heart
diseases
• Hypercyanotic spells (more with ToF)
• Poor growth
• Cerebral thrombosis
• Infective endocarditis
• Brain abscess
- cerebral complications more in iron deficiency
Hypercyanotic Spells (‘Tet Spell’)
Other terms –
“hypoxic spell’, ‘cyanotic spell’ or ‘paroxysmal dyspnoea’
• Life threatening attacks of severe cyanosis & distress
• most frequent in ToF
• may occur with other cyanotic heart diseases too
• May occur at any age
• common in iron deficient
• Common when resting cyanosis is less
“Tet Spells”- Clinical Features
• Period of restlessness/ panic
• Rapid and deep breathing (hyperpnea)
• Deepening of cyanosis
• Decreased intensity of heart murmur
• Limpness, convulsions and rarely death.
• Early recognition and effective control is important
“Tet Spells” - Pathophysiology
• Increase in pulmonary vascular resistance and
decreased systemic venous return favouring
decreased pulmonary flow and increased right-to-left
shunting.
• Hypoxemia, metabolic acidosis
• ?Pulmonary Infundibular spasm
Common precipitants of “Tet Spells”
• Crying
• Feeding or exertion
• Defecation
• Warm baths
• Waking from naps (low systemic resistance)
• Fever & Dehydration
• Tachypnea / tachycardia due to any cause
• Medications (e.g. ACE inhibitors)
“Tet Spells” -Management
• Knee – chest position “Squatting”
• O2
• Morphine 0.1 mg / kg IM/IV for sedation
• Correct metabolic acidosis with 1 mEq/Kg IV NaHCO3
• Fluid bolus 10-20ml/Kg IV
• IV Propranolol
• GA & Ventillation
• Early surgery Paediatrics and child health 2018;28:556-561
Knee- Chest Position
Knee Chest Position
Squatting Position
Tricuspid atresia
• Develops LVH
• PG therapy indicated to
maintain adequate
pulmonary flow
• Early palliative therapy
• Complete corrective
surgery not possible
Summary
• Cyanosis at birth
• Cyanotic congenital heart diseases
– Intracardiac mixing lesions
– Obstruction to pulmonary blood flow
– Timing of presentation
– Complications
– Emergency treatment
– Corrective surgery
Questions?
• A 6 day old infant is brought to the Emergency unit
due to poor feeding and activity. On examination
the baby is deeply cyanosed with SpO2 76%.
Peripheries are cold and clammy.
What is the most important step in the management
to save the infant’s life?
A. Oxygen via face mask
B. Prostaglandin infusion
C. Intravenous fluid bolus
D. Intubation and ventilation
E. Intravenous antibiotics
Thank you
