This document presents a case study of a 4-year-old boy named Rahim who has been experiencing bluish discoloration of his lips since infancy and breathlessness with exertion for the past 1.5 years. On examination, he was found to have cyanosis of his lips, tongue, and fingers as well as clubbing in his extremities. Tests revealed hemoglobin of 18.9 gm/dl and oxygen saturation of 83% on room air. Based on the history and examination, the provisional diagnosis is tetralogy of Fallot.

1. CASE PRESENTATION
BY –
Dr Kunwar Sidharth Saurabh

2. Demographic Details-
• Name – Rahim
• Age/ Sex – 4y / M
• Residence – Ara, Bihar
• Informant – Mother

3. Chief Complaints
• Bluish discolouration of lips since 2 months of age
• Breathlessness on exertion since 1 year of age

4. History of presenting complaint-
• Asymptomatic at birth to 2 months of age
• Gradual bluish discolouration of lips and skin noticed which worsened on crying
and sucking
• History of episodes of increasing bluish discolouration and rapid breathing on
exertion since 3-4 months of age.
• The bluish discolouration is persistent and is noticed to be more marked during
exertion and is not associated with change in temperature of exposure to cold.
• History of episodes of loss of consciousness before which the child becomes limp.
• Episodes lasted for 3-5 minutes. Episodes happens 1-2 times in a month.
• Resolved on squatting or on being calmed by mother.
• Increased frequency of such episodes over last 6-8 months.

5. Continued ..
• History of breathlessness on exertion since last 1.5 years.
• Ordinary activity like playing with children or running around in the house causes
shortness of breath which is relieved by taking rest. Breathlessness is not associated with
cough, chest pain, fever, coughing out blood, and there is no seasonal or diurnal
variation. It does not aggravate on exposure to cold, dust fumes or any other allergens.
• No history of frequent respiratory infections
• No history of feeding difficulties.
• No history of fever, headache, vomiting, convulsions, lethargy or focal motor weakness.
• No history of palpitation, sudden transient loss of vision, joint pain or swelling.

6. Treatment History
• No history of previous hospitalisation or any surgical intervention.
• Receiving Tab Propanolol (10 mg) OD since last 1-1.5 years (irregular).
Birth History –
Full term normal vaginal delivery, institutional.
Birth weight 2.6 kg, baby cried after birth
No significant maternal illness in the antenatal period.
No history of bluish discolouration/jaundice in the neonatal period.
No skeletal or other obvious physical deformity since birth.

7. • Developmental History –
• Developmental milestones are attained within normal limits.
• Immunisation History –
• The child has been immunised with all the recommended vaccination till date
for the age.
• Family History –
• No history of similar disease in the family.

8. General Examination -
• Patient is conscious , coherent to the surrounding, sitting calmly in the lap of his mother.
• Weight – 12 kg
• Height – 97 cm
• Mid upper arm circumference – 13 cm
• Afebrile
• Pallor – nil
• Cyanosis (+) – lips, tounge, fingers
• Icterus – nil
• Clubbing – grade 2 seen in all four limbs
• Lymphadenopathy – nil
• Neck veins – not engorged, There are no dilated veins elsewhere

9. Continued ..
• Pulse – 88/min regular, no radio radial or radio femoral delay. Good
volume, palpable in all four limbs .
• Blood Pressure – 84/60 mm Hg, left arm, supine position
• Room air saturation – 83%
• Respiratory rate – 26/min
• There is no skin lesions/scar mark over the body.
• There is no deformity noted in the precordial area.
• The abdomen is normal in shape and not tense.

10. Cardiovascular system
• Inspection –
• Precordium is normal on inspection
• No visible apical impulse
• No visible pulsation
• No scar mark visible
• Palpation –
• Apex beat is located in 5th left Intercostal space, 7 cm from midsternal line, just medial to
midclavicular line , normal in nature.
• No left parasternal heave
• No thrill
• No other pulsations
• The trachea is central in position
• There is no hepatomegaly/ascites.
• Examination of respiratory/GI/CNS systems doesn't reveal any other abnormality.
• Grade2 clubbing can be appreciated on the extremities.

11. • Auscultation –
• S1 is normal
• S2 is single
• There is an ejection systolic murmur in the pulmonary area increasing in
intensity with breath holding.
• Grading of murmur is 3/6
• There is no added sound/murmur in other areas
• The lung fields are clear.

12. CNS
• Higher functions – normal
• No motor or sensory deficits
• Milestones as per age within normal limits

13. Provisional diagnosis on the basis of history
and examination -
• CCHD, WITH RL SHUNT, NO EVIDENCE OF IE/CCF, NORMAL SINUS
RHYTHM, MOST PROBABLY A CASE OF TETRALOGY OF FALLOT
PHYSIOLOGY

14. Investigations -
• CBC –
• Hb – 18.9 gm/dl
• TLC – 7000 /cumm
• HCT – 66%
• PLT – 1.7 lac
• LFT/KFT – WNL
• INR – 1.2

15. ECG

16. X-Ray