Tetralogy of Fallot:
TOF occurs in 5% to 10% of all congenital heart defects. This is probably the most common cyanotic
heart defect. TOF included the following four abnormalities: a large VSD, right ventricular outflow
tract (RVOT) obstruction, RVH, and overriding of the aorta. Right aortic arch is present in 25% of
cases
manifestations
Clinical
History
1-A heart murmur is audible at birth.
2-Dyspnea on exertion, squatting, or hypoxic spells develop later, even in mildly cyanotic infants
3-Occasional infants with acyanotic TOF may be asymptomatic or may show signs of CHF from
large left-to-right ventricular shunt.
4-Immediately after birth, severe cyanosis is seen in patients with TOF and pulmonary atresia.
Physical Examination
1-Varying degrees of cyanosis, tachypnea, and clubbing (in older infants and children) are present.
2-An RV tap along the left sternal border and a systolic thrill at the upper and mid-left sternal
borders are commonly present (50%).
3. An ejection click that originates in the aorta may be audible. The S2 is usually single because
the pulmonary component is too soft to be heard. A long, loud (grade 3 to 5/6) ejection-type
systolic murmur is heard at the middle and upper left sternal borders. This murmur originates from
the PS but may be easily confused with the holo-systolic murmur of a VSD. The more severe the
obstruction of the RVOT, the shorter and softer the systolic murmur. In a deeply cyanotic neonate
with TOF with pulmonary atresia, heart murmur is absent, although a continuous murmur
representing PDA may be occasionally audible.
Electrocardiography
1-Right axis deviation .In the acyanotic form, the QRS axis is normal.
2. RVH is usually present; BVH may be seen in the acyanotic form. RAH is occasionally present
ray Studies
-
X
1-The heart size is normal or smaller than normal, and pulmonary vascular markings are
decreased. “Black” lung fields are seen in TOF with pulmonary atresia.
2-A concave main PA segment with an upturned apex (i.e., “boot-shaped” heart or coeur -en -
sabot) is characteristic
3-right aortic arch (25%) may be present.
Natural history
1-Infants with acyanotic TOF gradually become cyanotic. Patients who are already cyanotic
become more cyanotic as a result of the worsening condition of the infundibular stenosis and
polycythemia.
2-Polycythemia develops secondary to cyanosis.
3-Physicians need to watch for the development of relative iron-deficiency state (i.e.,
hypochromia)
4-Hypoxic spells may develop in infants
5-Growth retardation may be present if cyanosis is severe.
6-Brain abscess and cerebrovascular accident rarely occur
7-SBE is occasionally a complication.
8-Some patients, particularly those with severe TOF, develop AR.
9-Coagulopathy is a late complication of a long-standing cyanosis
Hypoxic spell
Hypoxic spell (also called cyanotic spell, hypercyanotic spell, “tet” spell) of TOF requires
immediate recognition and appropriate treatment because it can lead to serious complications of
the CNS.
Hypoxic spells are characterized by a paroxysm of hyperpnea (i.e., rapid and deep respiration),
irritability and prolonged crying, increasing cyanosis, and decreasing intensity of the heart
murmur. Hypoxic spells occur in infants, with a peak incidence between 2 and 4 months of age.
These spells usually occur in the morning after crying, feeding, or defecation. A severe spell may
lead to limpness, convulsion, cerebrovascular accident, or even death. There appears to be no
relationship between the degree of cyanosis at rest and the likelihood of having hypoxic spells
How does it happen?
1-Imbalance between pulmonary & systemic vascular resistance , decreased pulmonary blood flow
& increased right-to-left shunting which results
2-fall of arterial PaO2
3-Fall in pH stimulate respiratory centre =hyperpnea
Presence of fixed resistance at the RVOT= more shunting which cause vicious cycle of hypoxic
spell
Increase in infundibular contractility
Hypoxemic spells are caused by spasm of the infundibulum of the right ventricle which
precipitates a cycle of progressively increasing right to left shunting and metabolic acidosis.
Hyperpnea increases oxygen demand & cardiac output
Increases the systemic venous return leading to right to left shunt as well as oxygen consumption
,Explained the occurrence of spell in early morning & during Valsalva-like maneuver (crying,
bowel movement)
Management of spells
1. Check airway and start oxygen. If child is uncomfortable with mask or nasal cannula, deliver
oxygen via tube whose end is held ½ - 1 inch away from nose. This corresponds to delivering 80%
oxygen.
2. Knee - chest position.
3. Obtain a reliable intravenous access.
4. Sedate child with subcutaneous morphine 0.2 mg/kg/dose]or i/m ketamine [ 3-5 mg/kg/dose] if
the access is not obtainable expeditiously.
5. Soda -bicarbonate 1- 2 ml/kg
6. Correct hypovolemia (10ml/kg fluid dextrose normal saline).
7. Keep the child warm.
8. Start beta -blockade. Beta blockade is fairly safe unless a specific contraindication like bronchial
asthma or ventricular dysfunction exists. It should always be given with heart rate monitoring.
Medications and dosages:
1- IV metoprolol 0.1 mg/kg, given slowly over 5 min and can repeat every 5-min for a maximum
of 3 doses then can be followed by infusion 1-2 mcg/kg/min
2-Monitor saturation, heart rates & BP and aimed to keep heart rate below 100/min
Other options
1- I/v Esmolol: Esmolol is relatively expensive but has the advantage of being very short acting.
2- I/V propranolol [0.1 mg/kg].If desaturation persists and there is still no significant trend
towards improvement despite maximum beta blockage
3-Start vasopressor infusion.
Methoxamine
Phenylepherine
4-If spells are persistent, consider paralyzing the child, elective intubation and ventilation and plan
for surgery, which can be corrective or palliative [BT shunt]
5-If convulsions occur- consider IV diazepam 0.2 mg/kg or IV midazolam 0.1-0.2 mg /kg/dose, as
slow push.
6-Appropriate and timely management of cyanotic spells can save lives and prevent CNS insults.
After a Spell:
1-After a spell is successfully managed, a careful neurological examination is mandatory. In case
of suspicion of neurologic insult during a spell, a CT scan is to be done to assess the presence and
extent of cerebral infarcts.
2-Initiate maximally tolerated beta-blockade (propranolol 0.5-1.5 mg/kg/dose 8hourly or 6 hourly).
The dose can be titrated by the heart rate response.
3- Plan towards early corrective or palliative operation (depending on the age and anatomy).
4- Correct anemia by packed cell transfusion. Hemoglobin levels < 12 gm/dl merit correction
through a blood transfusion in children with cyanotic spells; Continue therapeutic (if anemic) or
prophylactic iron therapy (if not anemic).
efect
Preventing a Spell in a Child with a Cyanotic Congenital Heart D
1-Parents of patients diagnosed to have a cyanotic congenital heart defect should be counseled if
the possibility of occurrence of a spell is anticipated:
2-Explain to them the circumstances when a spell may occur.
3-Avoid dehydration.
4-Rapid control of temperature whenever fever occurs
5-Encourage early surgical repair