Tetralogy of Fallot. A 35 years old man with cyanosis and clubbing.

1. Welcome to case presentation
A 35-year male presented with
Cyanosis & Clubbing
Dr.Seebat Masrur
D-card student
SZMCH

2. PARTICULARS OF
THE PATIENT
• Name of the patient :Mr Sumon Reg. no.3049/05.
• Age :35-year Ward: 03
• Sex :Male Bed-CCU9
• Marital status :Married
• Religion : Islam
• Occupation : Shopkeeper
• Address : Dhunut, Bogura
• Date of admission : 15/10/2022
• Date of examination : 15/10/2022

3. Presenting complaints
Severe breathlessness for 3 days.
Bluish discoloration of lips, tongue, fingers &
toes on exertion since childhood.

4. History of Present Illness
According to the patient’s statement, he has been
suffering from breathlessness for 3 days. His
breathlessness was less marked in earlier age, only felt
during moderate to severe activity. But it has
progressively increased even during mild exertion. He is
comfortable at rest and on lying flat. He has no history of
awakening from sleep due to breathlessness. There is no
seasonal or diurnal variation of breathlessness or any
association with exposure to dust, pollen or fume.

5. Continued…
He has no history of cough, chest pain, fever or wheeze
or swelling in any part of the body.
His mother mentioned bluish discoloration of fingers,
nails, toes and lips since his childhood which was more
marked on exertion. It gradually progressed and became
more marked on mild exertion which partially relieved by
squatting. It was not associated with exposure to cold.

6. Continued…
On query he admitted to being fatigue during
competitive activities since childhood.
His mother also mentioned that he used to become
bluish and breathless while feeding or crying. She also
complained that his growth is less than other children of
same age.
He gave no history of dizziness, headache, loss of
consciousness, blurring of vision, weakness of any part of
the body.

7. History of past illness
He had been suffering from repeated cough, fever &
breathlessness since childhood.
He had a history of same type of attack during exertion
and playing games.
Patient is nondiabetic and normotensive.

8. Family history
• His father and mother are alive and healthy
• No family history of Hypertension, Diabetes mellitus,
heart disease, bronchial asthma.

9. Socioeconomic History
He belongs to a Lower socioeconomic family. He lives in a
tinshed house, drinks tubewell water and uses sanitary
latrine.

10. Treatment history
He frequently visited local village doctor for his illness.
He was treated with nebulization and other drugs which
he could not mention except for Tab Propranolol 10mg
twice daily with some relief.
He had no history of prior hospitalization.

11. Personal history
He is a nonsmoker, non-beetle nut chewer, nonalcoholic
and no history of drug abuse.

12. Immunization Hisotry
• He was Immunized as per EPI schedule.
• He took 2 doses of Covid vaccination.

13. General examination
• Appearance : Ill-looking
• Body built : Average
• Nutritional status : Below average
• Anemia : Absent
• Conjunctiva: Suffused
• Jaundice : Absent
• Cyanosis : Present

16. General examination
• Edema : Absent
• Dehydration : Absent
• Clubbing : Bilateral symmetrical both fingers & toes
• Koilonychia : Absent
• Leukonychia: Absent
• Lymphadenopathy: Absent
• Thyroid Gland: Not palpable

19. • Pulse : 76 beats/min
• Blood Pressure : 100/60mmHg(Sitting)
• Respiratory rate: 22 breaths / min
• Temperature : 980 F
• JVP : Not raised

20. SYSTEMIC EXAMINATION

21. Cardiovascular Examination
Pulse : 76 beats/min, regular, normal in volume and
character, condition of vessel wall normal, no radio-radial
and radio-femoral delay, all other peripheral pulses are
present and palpable.
Blood Pressure : 100/60mmHg(Sitting)
JVP : Not raised

22. PRECORDIUM
Inspection-No visible apical impulse
-No suprasternal or supraclavicular pulsation
-No other pulsation in precordium
-No scar mark
Palpation-
-Apex beat is located in left 5th intercostal space
just medial to midclavicular line, normal in character.
-No palpable P2
-No parasternal heave
-No thrill

23. Auscultation
• First heart sound is normally audible in all areas.
• Second heart sound is single.
• There is an ejection systolic murmur is pulmonary area
increasing intensity with breath hold in inspiration.
• Grading of murmur 3/6.
• Lung bases are clear.

24. Respiratory system examination:
• Trachea centrally placed.
• Apex as mentioned above.
• Vocal fremitus is normal and symmetrical in all over both lung
fields.
• Breath sound is vesicular and no added sound.

25. Abdominal Examination:
• Abdomen is normal size and shape.
• Umbilicus centrally placed ,inverted .
• Soft and non tender.
• No organomegaly . No ascites.
• Bowel sound present.
Other systemic examination-
Reveals no abnormalities.

26. Salient feature
Mr Sumon, 35-year old normotensive, nondiabetic,
nonsmoker male, hailing from Dhunut, Bogura got
admitted in Cardiology department on 15/10/2022 with
the complaints of severe breathlessness for last 3 days. In
early age, only felt during moderate to severe activity.
But it progressively increased, now it occurs with mild
exertion.

27. Salient feature
There was also cyanosis in his fingers, nails, toes, lips and
tongue since childhood, which was more marked during
exertion. He gave history of cyanotic spell during feeding,
crying and playing.
There is no history of fever, cough, palpitation, joint pain
or swelling, headache, dizziness, orthopnea, paroxysmal
nocturnal dyspnea, no swelling of any part of body or
weakness, no seasonal or diurnal variation of
breathlessness. Cyanosis was not associated with
exposure to cold.

28. Salient feature
On examination, the patient was ill-looking, nutritional
status was below average, cyanosed and clubbing
involving all fingers and toes. There was no anemia, but
conjunctiva was suffused. His pulse was 76 b/min,
regular, normal in volume and character, condition of
vessel wall normal, no radio-radial and radio-femoral
delay.

29. Salient feature
BP 100/60 mm hg, respiratory rate 22 breaths/min,
temperature is 980 F, JVP not raised.
Examination of precordium, there was no visible impulse
on the precordium, apex beat was located in left 5th
intercostal space just medial to midclavicular line, normal
in character & there was no thrill and no left parasternal
heave.

30. Salient feature
On auscultation first heart sound was normally audible in
all areas, second heart sound was single. There was an
ejection systolic murmur in pulmonary area increasing in
intensity with breath hold in inspiration. Grading of
murmur 3/6.Lung bases were clear.
Other systemic examination revealed no abnormalities.

31. PROVISIONAL
DIAGNOSIS

32. PROVISIONAL DIAGNOSIS
So, my provisional diagnosis is-
Cyanotic Congenital Heart Disease- most likely Tetralogy
of Fallot

33. Differential
diagnosis
Pulmonary Stenosis with
Atrial Septal Defect
Double Outlet Right Ventricle
with Pulmonary Stenosis
Ebstein anomaly
Eisenmenger syndrome

34. Investigations
COMPLETE BLOOD
COUNT
results Other investigation results
Hb% 24.1 gm/dl S. creatinine 0.95 mg/dl
ESR 2 mm in 1st hour S.sodium 142.00 mmol/l
WBC 9.7x 10^9 /L S.potassium 4.10 mmol/l
RBC 9.25x 10^9 /L chloride 105.00 mmol/l
Neutrophil 60% Serum uric acid 4.91mg/dl
Lymphocyte 16% S ferritin 1756 mg/dl
Monocyte 02%
Eosinophil 02%
HCT 75.93%
MCH 30PG

35. ECG • Right axis deviation
• Prominent R in V1
• Predominant S wave in V6
• Tall P in lead 1 & 2

36. Chest X ray
• Boot shaped heart
• Oligemic lung field
• Right sided aortic arch

37. Echocardiography

38. Echocardiography

42. Echocardiography
-Peri membranous VSD(12mm)
-Overriding of Aorta
-Right ventricular hypertrophy
-Pulmonary valvular stenosis

43. Final Diagnosis

44. Final diagnosis
Tetralogy of Fallot

45. Treatment Options
Medical
management
Surgical
management

46. Treatment on Admission
-Oxygen inhalation( 4-6L/min)
-Volume expansion with Inf Normal saline
-Tab. Propranolol 10mg 1+0+1
-Venesection Twice

47. Surgical Management
Palliative Surgery
• Classic BT shunt
• Modified BT shunt
• Waterstone shunt
• Potts shunts
• Glenn shunt
Total Correction
-VSD closure
-PS correction
-RVOT widening

48. Tetralogy of Fallot
Commonest form of cyanotic
Congenital heart disease

49. Components
• Large, perimembranous, nonrestrictive, Malaligned
VSD
• Pulmonary stenosis
• Overriding of Aorta
• Right ventricular hypertrophy

50. Primary component
• VSD
• PS
Secondary Component
• RVH
• Overriding of Aorta

51. Associated defects
• Right sided Aortic arch(25%)
• Persistent left superior venacava(25%)
• Abnormal origin of coronary arteries(5%)
• LAD originate from right coronary artery and over the
RVOT
• Complete Av canal defect
• MAPCA
• ASD Secundum
• PDA

52. Development
Due to unequal separation of conus cordis

53. Presentation of TOF
• Central Cyanosis with digital Clubbing
• Effort Intolerance
-Breathlessness is associated with squatting
-Increase with exertion
• Hypoxic attacks/Cyanotic spells
• Angina on Effort

54. Precipitating
Factors of
Cyanotic
Spell
• Infection
• Exertion-playing,feeding,crying
• Excitement
• Emotion
• Stress
• Drug-Digitalis

55. Regarding Cyanosis
• 1/3rd patient cyanosed at birth
• Many patient do not cyanose until 1 year
• Both cyanosis and clubbing increase gradually with age due
to increase severity of Pulmonary stenosis
• 3/4th are cyanosed over the age of 2

56. Why cyanosis develop after 6
month?
• Sympathetic nervous system develops after 6 month.
• TOF is associated with sympathetic overactivity.

57. Mechanism of effort intolerance
• Exertion causes increase demand of tissue for oxygen
• Exertion also associate with sympathetic overactivity
So, more infundibular stenosis occurs that lead to Right to left
shunt.
Deoxygenated blood goes to systemic circulation and
Anaerobic glycolysis occurs.
More production of metabolic acids that stimulates
respiratory center.
Hyperventilation occurs.

58. How squatting relieves Dyspnea
So, decreases the right to left shunt
Pressure in inferior venacava reduces the amount of acid
metabolites reaching the brain.
Compression of abdominal aorta and femoral artery
raising systemic vascular resistance.

59. How squatting relieves Dyspnea

60. General Examination
• Growth retardation
• Suffused conjunctiva
• Central cyanosis
• Bilateral symmetrical clubbing
• BP low
• JVP normal
• Pulse-normal(asymmetrical if BT shunt done)

61. Precordium examination
• Precordium usually silent or cardiac impulse is quiet
• No left parasternal lift
• No palpable P2
• No thrill
• 2nd heart sound is single
• Ejection systolic murmur
-in pulmonary area
-murmur disappears during cyanotic spell

62. Investigation
• For diagnosis
ECG
Chest x ray
Echocardiogram
Cardiac catheterization
• For treatment
CBC
PCV
Iron profile
S.uric acid
ABG

63. ECG findings
• RVH
• RAD
• RVH with strain(if RV pressure>systemic pressure)
• RA enlargement-p pulmonale(in adult TOF)
• LAD(if AV canal defect)

64. X ray findings
Boot shape heart
-combination of RVH lifting the Apex
-pulmonary bay is deep due to hypoplastic pulmonary
artery
Oligemic lung field

65. Echocardiogram
• PLAX view
VSD
Overriding of aorta
Aorto mitral continuity present
Aorto septal discontinuity
Dilated coronary sinus(PLSVC)

66. Echocardiogram
• PSAX view
VSD peri membranous(10” O clock)
• Apical 4c view
VSD type
VSD pressure gradient
• Suprasternal view
Right sided aortic arch

67. Cardiac Catheterization
• Trajectory
• Oximetry
• Pressure study
• Root Aortogram
• Ventriculography

68. Complication of TOF
• Cyanotic spell
• Cerebral abscess
• Cerebrovascular accident
• Subacute infective endocarditis
• Congestive Heart Failure
• Iron deficient anemia
• Hyperviscosity syndrome
• Gout

69. Management of TOF

70. General management
• Avoid dehydration
• Plenty of fluid intake to prevent hyperviscosity
• Treatment of infection
• Correction of anemia
• Prophylaxis of Infective Endocarditis

71. Management of Cyanotic spell
• Knee chest position
• Oxygen inhalation
• Morphine 1microgram per kg intravenously
• Propranolol 1 to 3 mg/kg IV
• Sodibicurb IV if acidosis
• Adequate hydration
• Convulsions/epileptic fits
IV phenytoin/phenobarbitone

72. Surgical Management
• Palliative surgery
• Definitive corrective surgery

73. Palliative indication
• Very small infant(<5kg) with recurrent spells
• Pulmonary artery anatomy unsuitable for corrective
surgery
• TOF with Pulmonary Atresia
• Unfavorable coronary artery anatomy

74. Palliative surgery option
• Classic BT shunt
• Modified BT shunt
• Waterstone shunt
• Potts shunts
• Glenn shunt

75. Cause of death
• Cyanotic spell
• Malignant Ventricular Arrhythmias
• Congestive Heart failure
• Cerebral abscess
• Infective endocarditis

76. Prognosis
Ref https://jamanetwork.com/journals/jamacardiology/fullarticle/2718499
Without surgery
• 33% die within 1 year
• 50% die by 4-5 years
• 75% die by 10 years
• 5% survive beyond 30 years
With Surgery(Complete repair)
• 1-year survival 98.6%
• 5-year survival 97.8%
• 10-year survival 97.1%
• 20-year survival 95.5%
• 25-year survival 94.5%

77. Take Home
message
• Tetralogy of Fallot is a common
cyanotic congenital heart
disease in childhood.
• Typical cyanotic spell, repeated
chest infections & clubbing
should be considered as
Tetralogy of Fallot.
• A simple Echocardiography can
confirm the diagnosis.
• A patient with Tetralogy of
Fallot can survive like a normal
person after corrective surgery.