Cyanotic congenital heart diseases are those associated with central cyanosis. This document discusses cyanosis, its causes and influence of hemoglobin level. It also covers consequences of cyanosis like polycythemia and complications. Tetralogy of Fallot and transposition of the great arteries, two common cyanotic congenital heart diseases, are described in detail including their pathophysiology, clinical features, investigations, management and prognosis. Congenitally corrected transposition of the great arteries is also briefly discussed.

1. Cyanotic Congenital Heart Diseases
Hayat Ahmed, MD
Pediatric Cardiologist
January, 2023
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2. What is cyanosis?
Cyanosis is a bluish discoloration of the skin and mucous membranes
Desaturation of 5g/dl of hemoglobin in the cutaneous veins
Central cyanosis -desaturation of arterial blood
Peripheral cyanosis-increased extraction of oxygen by peripheral tissue in the
presence of normal arterial saturation
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3. What is the influence of hemoglobin level on cyanosis?
A normal person with hemoglobin of 15 g/dl →3 g of reduced hemoglobin results from
20% desaturation (because 3 is 20% of 15) →80% saturation
Cyanosis is recognized at a higher level of oxygen saturation in patients with
polycythemia and at a lower level of oxygen saturation in patients with anemia
polycythemia hemoglobin of 20 g/dl→ 3 g of reduced hemoglobin results from only 15%
desaturation → 85% arterial saturation
 Anemia hemoglobin of 6 g/dl →3 g of reduced hemoglobin results from 50%desaturation
→ cyanosis appear when arterial oxygen saturation is reduced to 50%
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4. Consequences and Complications of cyanosis
Polycythemia
Clubbing
CNS complications
Bleeding disorders
Hypoxic spells and squatting
Scoliosis
Hyperuricemia and gout
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5. Classification of cyanotic CHD
• With increased pulmonary flow
TGA
TAPVC
Truncus arteriosus
HLHS
• With decreased pulmonary flow
TOF
Pulmonary atresia
Tricuspid atresia
Ebstein Anomaly
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6. Tetralogy of Fallot
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7. Tetralogy of Fallot
• Common cyanotic
congenital cardiac anomaly
• Four anatomical
components of TOF:
VSD
Overriding Aorta
Right ventricular outflow
obstruction
Right ventricular
hypertrophy
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8. Pathophysiology
• Severity directly proportional to the degree of RVOT obstruction.
• Change in pulmonary and systemic vascular resistance and the degree
of RVOT obstruction affect degree of R-L shunt.
• Infundibular stenosis is progressive.
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9. Clinical Manifestations
• Variable depend on RVOT obstruction
 pink to cyanosis
CHF is not a usual manifestation of TOF
Squatting
Dyspnoea on exertion
Hypoxic spells
Growth failure
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10. Physical Examination
Cyanosis variable
Clubbing
Usually S2 is single
Quite precordium
Thrill at the pulmonary area(-+)
Systolic ejection murmur at the
pulmonary area(LUSB)
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11. Electrocardiography (TOF)
• Right axis deviation
• Right atrial and right ventricular
enlargement
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12. Chest x ray (TOF)
• Normal sized, boot
shaped heart.
• Reduced pulmonary
vascular marking
(oligemic) depend on the
degree of RVOT
obstruction.
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13. Echocardiography (TOF)
• Location and size of the VSD
• The aortic override
• The degree of RVOT obstruction
• The size of pulmonary valve annulus
• Look for additional pulmonary artery
branch stenosis.
• Look for other associated anomalies
Right aortic arch
Coronary arteries anatomic variations
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14. Complications
Cardiovascular accidents : occurs in 4-5% of cases is due to cerebral embolism.
Brain abscess: rare in the first two years of life may be due to small cerebral
infract which is super infected due to bacteraemia.
Infective endocarditis
Polycythemia
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15. Management
Medical management:
A) Neonatal period if pulmonary flow is dependent of DA, give prostaglandin to
prevent ductal closure and followed by palliative shunt (B-T Shunt)
B)Recognition and treatment of hyper cyanotic spell.
Knee chest positioning of the patient
Administration of oxygen
Volume expansion
Correction of acidosis
Sedation with morphine
Propranolol
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16. Management cont…
C) Treat infective endocarditis with antibiotic IV for 4-6 weeks
D) Anemia should be corrected
Check RBC indices if MCV low start with iron despite high HCT
E)Correct severe polycythemia
Phlebotomy indicated if HCT > 65% or > 60 if patient is symptomatic.
volume removed : measured Hct --desired HCtx80/kg BV
measured Hct
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17. Management
Surgical Management:
A) Palliative: Modified Blalock-Taussig
shunt between pulmonary artery
branch and subclavian artery
B) Corrective surgery : closing of the
VSD and reliving all possible source of
RVOT obstruction.
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18. Transposition of The Great Arteries
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19. Complete Transposition of the Great Arteries
• The great arteries arise from
morphologically wrong
ventricles. (The aorta arise from
the RV and Pulmonary arises
from LV in the setting of a
concordant atrioventricular
connection.
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20. Transposition of the Great Arteries
• TGA occurs in 8-9% of CHD
• Male are affected than Females
• Different variety exist
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21. Hemodynamic
The RV pressure is systemic
The blood returning from the lung pass to the lung via PA
Systemic venous return passes back to the systemic circulation via the aorta.
Both ventricles are volume overloaded.
The right ventricle also pressure overloads and result in CHF
Survival depend on associated Large ASD, VSD,PDA.
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22. Clinical features
Cyanosis detected 87% of the neonates immediately ; rest later at the age of
1 to 3 month and is progressive.
Clubbing
Squatting only 20% of patients
Dyspnoea
Cardiac failure
Cough
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23. Clinical features cont..
• TGA with no VSD
Cyanosis intense
Precordial lift
Loud first sound
Murmur may not be heard
• Large heart with egg - on side
appearance.
• Increased pulmonary vascular
marking
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24. Echocardiography(TGA)
Shows the origin of :
pulmonary artery from the LV
Aorta from RV
• Associated lesions like VSD and
ASD be identified.
• Coronary artery anatomy
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26. Prognosis
• Patient die of anoxia and or CHF in the first 6 month of life if
there is little communication.
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27. Management
Medical management:
• Prostaglandin to keep the DA open until palliation done
• Give oxygen
• Treat metabolic acidosis with bicarbonate.
• Diuretics
Surgical:
• Palliative balloon septostomy creating (increasing) ASD, Rashkind procedure.
• Corrective surgery has to be done early
Arterial Switch (Jaten Procedure)
Atrial switch ( Mustard or senning procedure)
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28. Management cont
• Atrial baffle operations (Mustard
and Senning operations)
• Rastelli operation
• Arterial switch
operation(ASO)/Jatene-choice of
surgery
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29. Management cont
• Rastelli operation
• ASO/Jatene
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30. Congenitally corrected TGA(L-TGA)
• It occurs in <1% of all patients with CHD
• The atrioventricular relationships are discordant: the right atrium is connected to a
left ventricle and the left atrium to a right ventricle ( ventricular inversion )
• The great arteries are transposed, with the aorta arising from the right ventricle
and the pulmonary artery from the left.
• The aorta arises to the left of the pulmonary artery
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31. L-TGA cont
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32. L-TGA
• Without other defects ,the hemodynamics almost normal.
• In most patients associated anomalies coexist
VSD
Ebstein-like abnormalities of the left-sided atrioventricular (tricuspid) valve
 pulmonary valvular or subvalvular stenosis (or both)
Atrioventricular conduction disturbances
• complete heart block
• Accessory pathways such as Wolff-Parkinson-White syndrome
Dextrocardia in 50% of patients
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33. Further readings
1. Nelson text book of pediatrics. 21st edition.
2. Park’s pediatrics cardiology for practitioners, 7th edition
3. Moss and Adams’ Heart Disease in Infants, Children,and
Adolescents,10th edition.
A guide for pediatrics physical diagnosis for medical students
and practitioners
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