SAMPLE CASE OF TETRALOGY OF FALLOT: - No history of bluish

discoloration/jaundice/cyanosis in the
Name: Jackson, M. neonatal period
Age: 4 years old - Skeletal abnormalities like:
Informant: Mother  6 fingers in (R) hand
Place: Angeles City  4 fingers in (L) hand, noticed since
Presenting Complaints: birth
 Bluish discoloration of lips since 1 month - No other obvious deformity noticed since
of age. birth.
 Breathlessness on exertion since 6
months of age. Developmental History:
History of Present Illness:
- Asymptomatic in the first month of life. - Developmental milestones attained within
- Gradual, bluish discoloration of lips and skin normal limits.
worsens with crying and suckling. Family History
- Episodes of increasing bluish discoloration
and rapid breathing on exertion (playing, - No history of similar complaints in the
excess crying) since 2-3 months of age. family.
- Episodes of loss of consciousness before PHYSICAL EXAMINATION
which child becomes limp. 5 -6 episodes per
month during exertion. General physical examination
- Episodes lasted for 3-5 minutes
- Weight – 10 kg
- Resolved with squatting posture or on
- Height – 95 cm
calming by mother
- Afebrile
- Increased frequency of such episodes over
- Pallor – none
last 1 year.
- Cyanosis – (+), (lips, tongue, fingers)
- Breathlessness on exertion
- Icterus – none
- Ordinary activity like playing with other
- Clubbing – (+) 3°
children, climbing stairs causes shortness of
- Edema –none
breath - Relieved on taking rest.
- Lymphadenopathy – none
- No history of frequent respiratory tract
- Neck veins – not engorged
infections
- Pulse – 88/min, regular, no radio-radial or
- No history of feeding difficulties.
radio femoral delay.
- No history of fever, headache, vomiting,
- All peripheral pulses palpable.
convulsions, lethargy or focal motor
- BP – 84/60 mmHg (left arm, supine
weakness.
position).
- No history of headache, dizziness, blurred
- Peripheral venous access – adequate.
vision, somnolence, fatigue, paresthesia of
- Room air saturation calm child 82%.
fingers, toes and lips.
CARDIOVASCULAR SYSTEM
Treatment History
- No history of previous surgery Inspection
- Receiving T. propranolol (10 mg) OD x last 6 - Precordium normal on inspection
months (irregular) - No visible apical impulse
Birth History - No visible pulsation
- Full term normal delivery - No scar mark visible
- Birth weight 2.3 kg - Parasternal heave
- No significant maternal illness in antenatal
period.
Palpation  Creatinine- 0.8mg/dl
CXR:
- Apex  Heart size – (N)
 Palpable at (L) 4th ICS, 1 cm lateral  RV type apex
to the mid-clavicular line  Pulmonary vascularity
 Thrill palpable at (L) 2nd and 3rd ECG
intercostal space along the sternal  RAD
border  100/min, regular RV apex Pulmonary
Auscultation oligaemia
Echo
- S1, S2 audible - Severe infundibular + valvular PS
- Systolic murmur, grade IV, best heard at left - Confluent good sized pulmonary arteries
upper sternal border harsh in quality. Not - Large VSD with aortic override
radiating to back/axilla. (Perimembranous, R and L)
Respiratory system - No ASD, coarctation of aorta, PDA
- (N) RV/LV function
- No chest wall deformity on inspection
- Respiratory rate 20/min IMPRESSION
- regular, accessory muscles not working Critical Congenital Heart Disease -
- Auscultation: Pulmonary blood flow, confluent good sized
 B/L air entry equal pulmonary arteries, Tetralogy of Fallot.
 No added sounds
Airway assessment
- Mouth opening > 4 cm
- Neck movement adequate
- MP class I
- No facial deformity noted

Central Nervous System

- Higher functions – normal
- Cranial nerves, cerebellum, motor and
sensory examination – within normal limits

SPINE EXAMINATION
- No abnormality detected

PROVISIONAL DIAGNOSIS

 Cyanotic congenital heart disease with

no evidence of infective endocarditis or
congestive cardiac failure in sinus
rhythm.

Investigations:
 Hgb – 16.4
 TLC – 8,900
 Na+/K+ - 139/4.4meq
 Urea – 42mg/dl
ETIOLOGY:
Tetralogy of Fallot (TOF) is a congenital heart disease that causes cyanosis in early postnatal life.
It occurs when the heart does not form correctly as the fetus grows and develops in the womb during
pregnancy. In 1888, Arthur Fallot described the four (4) cardinal features of TOF:
1) Ventricular Septal Defect – a hole in the wall between the two ventricles.
2) Obstruction of the right ventricular outflow tract (Subpulmonary stenosis)
3) An aorta that overrides the VSD - Aorta is displaced anteriorly, straddling the muscular septum
and arising from both ventricles.
4) Right Ventricular Hypertrophy - Elevated pressures in the right ventricle from right ventricular
outflow obstruction and exposure to systemic pressure from the overriding aorta lead to
compensatory right ventricular hypertrophy.

Infants with tetralogy of Fallot or other conditions causing cyanosis can have problems including:

 A higher risk of getting an infection of the layers of the heart, called endocarditis.
 A higher risk of having irregular heart rhythms, called arrhythmia.
 Dizziness, fainting, or seizures, because of the low oxygen levels in their blood.
 Delayed growth and development.

Any condition that results in right-to-left shunting will produce cyanosis.

The classic cyanotic congenital heart lesions are the 5 Ts:
 TOF
 Transposition of the great arteries
 Truncus arteriosus
 Tricuspid atresia
 Total anomalous venous return
Other cardiac lesions that lead to cyanosis are
 Single ventricle
 Hypoplastic left heart syndrome
 Double outlet right ventricle
 Single atrium
 Pulmonic stenosis (PS) or atresia

In most cases, the cause isn't known although in some patients, genetic factors play a role. It's a common
type of heart defect. It may be seen more commonly in patients with Down syndrome (in association with
AV canal defects) or DiGeorge syndrome. Some patients can have other heart defects along with tetralogy
of Fallot.
Occurrence of TOF:
The Centers for Disease Control and Prevention (CDC) estimates that each year about 1,660 babies in the
United States are born with tetralogy of Fallot. In other words, about 1 in every 2518 babies born in the
United States each year are born with tetralogy of Fallot.

PATHOGENESIS:
The ventricular septal defect in tetralogy of Fallot is often described as a malalignment type, since the
conal septum is displaced anteriorly.
This displaced septum protrudes into the pulmonary outflow tract, often resulting in obstruction and
hypoplasia of the downstream structures, including the pulmonary valve, main pulmonary artery, and
branch pulmonary arteries.
The ventricular septal defect is typically large; thus, systolic pressures in the right and left ventricles
(and in the aorta) are the same.
Pathophysiology depends on the degree of right ventricular outflow obstruction.
A mild obstruction may result in a net left-to-right shunt through the VSD; a severe obstruction causes
a right-to-left shunt, resulting in low systemic arterial saturation (cyanosis) that is unresponsive to
supplemental oxygen.
MORPHOLOGIC CHANGES:
- The heart is typically enlarged and is classically “boot shaped” due to a marked hypertrophy of the
right ventricle.
- The ventricular septal defect is usually large with
the aortic valve close to its superior border,
overriding the defect and both ventricular
chambers.

CLINICAL MANIFESTATIONS:
 Paroxysmal attacks of dyspnea
 Hypercynanotic/Tet spells - episodes of
bluish pale skin during crying of feeding.
 Cyanosis of the lips and nail bed, pronounced
at birth.
 Harsh systolic murmur at the left upper sternal border with a single 2nd heart sound (S2) is
common.
 Loss of consciousness
 Convulsion - Frequency varies from once a few days to many attack everyday
 Dyspnea on exertion
 Exercise intolerance