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TETRALOGY OF FALLOT
1
CASE REPORT
TETRALOGY OF FALLOT
Introduction
Tetralogy of Fallot (ToF) is one of the most common congenital heart disorders
(CHDs). ToF is a relatively uncommon but serious combination of defects that are
the result of abnormal development in the embryo during the formation of the
heart and great blood vessels. ToF is classified as a cyanotic heart disorder
because the condition results in an inadequate flow of oxygenated blood to the
systemic circulation. The condition causes mixing of oxygen-poor blood with the
oxygen-rich blood being pumped out of the heart and into the circulatory system
of blood vessels.
• The blood leaving the heart has less oxygen than is needed by the organs
and tissues of the body, a condition called hypoxemia.
Patients with ToF initially present with cyanosis shortly after birth, thereby
attracting early medical attention.1
2
Louis Arthur Fallot, after whom the name tetralogy of Fallot is derived, was not
the first person to recognize the condition. Niels Stensen first described ToF in
1672; however, it was Fallot who first accurately described the clinical and
complete pathologic features of the defects.1
Although the disorder was clinically diagnosed much earlier, no treatment was
available until the 1940s. Cardiologist Helen Taussig recognized that cyanosis
progressed and inevitably led to death in infants with ToF. She postulated that the
cyanosis was due to inadequate pulmonary blood flow. Her collaboration with
Alfred Blalock led to the first type of palliation for these infants. In 1944, Blalock
operated on an infant with ToF and created the first Blalock-Taussig shunt
between the subclavian artery and the pulmonary artery.1
This pioneering surgical technique opened a new era in neonatal cardiac surgery.
This was followed by development of the Potts shunt (from the descending aorta
to the left pulmonary artery), the Glenn shunt (from the superior vena cava to the
right pulmonary artery), and the Waterston shunt (from the ascending aorta to the
right pulmonary artery).1
Scott performed the first open correction in 1954. Less than half a year later,
Lillehei performed the first successful open repair for ToF using controlled cross
circulation, with another patient serving as oxygenator and blood reservoir. The
following year, with the advent of CPB by Gibbons, another historic era of
cardiac surgery was established. Since then, numerous advances in surgical
technique and myocardial preservation have evolved in the treatment of ToF.1
ToF is the most common cyanotic heart defect seen in children beyond infancy.
ToF occurs in 3-6 infants for every 10,000 births and is the most common cause
of cyanotic CHD (10% of all CHD). The disorder is observed in other mammals,
including horses and rats. ToF accounts for a third of all CHD in patients younger
than 15 years. In most cases, ToF is sporadic and nonfamilial. The incidence in
siblings of affected parents is 1-5%, and it occurs more commonly in males than
in females. The disorder is associated with extracardiac anomalies such as cleft lip
and palate, hypospadias, and skeletal and craniofacial abnormalities.1, 2
3
The causes of ToF are unknown, although genetic studies suggest a multifactorial
etiology. Based on studies with affected Keeshunds, the mode of inheritance is
believed to be autosomal recessive with variable expression. Prenatal factors
associated with a higher incidence of ToF include maternal rubella (or other viral
illnesses) during pregnancy, poor prenatal nutrition, maternal alcohol use, taking
medications to control seizures during pregnancy, Having a condition called
phenylketonuria, maternal age older than 40 years, and diabetes. Children with
Down syndrome have a higher incidence of ToF.1, 3
As the name implies, ToF consists of 4 defects. These are pulmonic stenosis,
ventricular septal defect (VSD), over riding aorta and right ventricular
hypertrophy secondary to the pulmonic stenosis. Occasionally, a few children also
have an atrial septal defect, which makes up the pentad of Fallot. The basic
pathology of tetralogy is due to the underdevelopment of the right ventricular
infundibulum, which results in an anterior-leftward malalignment of the
infundibular septum. This malalignment determines the degree of right ventricular
outflow tract obstruction. Evidence suggests that these defects are the result of
varying degrees of abnormality in a single developmental process - the growth
and fusion of the conotruncal septum. It is possible that pulmonic stenosis or a
ventricular septal defect, both of which occur independently, may be less severe
manifestations of the same genetic defect. 1
In pulmonic stenosis, there is partial obstruction of blood flow from the right side
of the heart through the pulmonic valve. Because of the obstruction, the right side
of the heart has to work harder to pump blood to the lungs. This causes an
increase in the mass of the heart muscle, or right ventricular hypertrophy, one of
the hallmarks of this disorder. Obstruction to pulmonary arterial blood flow is
usually at both the right ventricular infundibulum (subpulmonic area) and the
pulmonary valve. The main pulmonary artery is often small, and various degrees
of branch pulmonary artery stenosis may be present. Complete obstruction of right
ventricular outflow (pulmonary atresia with VSD) is classified as an extreme form
of tetralogy of Fallot.4
4
A ventricular septal defect is a defect or hole in the muscular wall of the heart (the
septum) that separates the right and left ventricles. The aorta which carries blood
from the left side of the heart, is mal-positioned to varying degrees with ToF.
Normally, the blood that is pumped to the body from the left side of the heart is
fully saturated with oxygen. The oxygen is extracted from the blood for use in the
various tissues and then the deoxygenated blood is returned to the right side of the
heart. It goes to the lungs to pick up oxygen, and then is delivered back to the left
side of the heart, from which it is pumped out to the tissues again. The result of
the defects that make up the ToF is that poorly oxygenated blood is delivered to
the body. This causes general cyanosis or a grey tone to tissues that would
normally be pink.4
The pulmonary valve annulus may be of nearly normal size or quite small. The
valve itself is often bicuspid and, occasionally, is the only site of stenosis. More
commonly, the subpulmonic muscle, the crista supraventricularis, is hypertrophic,
which contributes to the infundibular stenosis and results in an infundibular
chamber of variable size and contour. When the right ventricular outflow tract is
completely obstructed (pulmonary atresia), the anatomy of the branch pulmonary
arteries is extremely variable; a main pulmonary artery segment may be in
continuity with right ventricular outflow, separated by a fibrous but imperforate
pulmonary valve, or the entire main pulmonary artery segment may be absent.
Occasionally, the branch pulmonary arteries may be discontinuous. In these more
severe cases, pulmonary blood flow may be supplied by a patent ductus arteriosus
(PDA) and by major aortopulmonary collateral arteries (MAPCAs) arising from
the aorta.4
The VSD is usually nonrestrictive and large, is located just below the aortic valve,
and is related to the posterior and right aortic cusps. Rarely, the VSD may be in
the inlet portion of the ventricular septum (atrioventricular septal defect). The
normal fibrous continuity of the mitral and aortic valves is usually maintained.
The aortic arch is right sided in 20%, and the aortic root is usually large and
overrides the VSD to a varying degree. When the aorta overrides the VSD more
than 50% and if muscle is significantly separating the aortic valve and the mitral
5
annulus (subaortic conus), this defect is usually classified as a form of double-
outlet right ventricle; the pathophysiology is the same as that for tetralogy of
Fallot.4
Systemic venous return to the right atrium and right ventricle is normal. When the
right ventricle contracts in the presence of marked pulmonary stenosis, blood is
shunted across the VSD into the aorta. Persistent arterial desaturation and
cyanosis result. Pulmonary blood flow, when severely restricted by the
obstruction to right ventricular outflow, may be supplemented by the bronchial
collateral circulation (MAPCAs) and, in the newborn, by a PDA. Peak systolic
and diastolic pressures in each ventricle are similar and at the systemic level. A
large pressure gradient occurs across the obstructed right ventricular outflow tract,
and pulmonary arterial pressure is normal or lower than normal. The degree of
right ventricular outflow obstruction determines the timing of the onset of
symptoms, the severity of cyanosis, and the degree of right ventricular
hypertrophy. When obstruction to right ventricular outflow is mild to moderate
and a balanced shunt is present across the VSD, the patient may not be visibly
cyanotic (acyanotic or “pink” tetralogy of Fallot).4
The clinical features are directly related to the severity of the anatomic defects.
Most infants with ToF have difficulty with feeding, and failure to thrive is
commonly observed. Puberty may also be delayed in patients who do not undergo
surgery. Infants with pulmonary atresia may become profoundly cyanotic as the
ductus arteriosus closes unless bronchopulmonary collaterals are present.
Occasionally, some children have just enough pulmonary blood flow and do not
appear cyanotic; these individuals remain asymptomatic until they outgrow their
pulmonary blood supply.4
6
Systolic pressures in the RV, LV, and AO are identical. Level of arterial desaturation is related to severity of
the RV outflow tract obstruction. Atrial pressures are mean pressures. AO = aorta; IVC = inferior vena cava;
LA = left atrium; LV = left ventricle; PA = pulmonary artery; PV = pulmonary veins; RA = right atrium; RV
= right ventricle; SVC = superior vena cava.
Infants with mild degrees of right ventricular outflow obstruction may initially be
seen with heart failure caused by a ventricular-level left-to-right shunt. Often,
cyanosis is not present at birth, but with increasing hypertrophy of the right
ventricular infundibulum and patient growth, cyanosis occurs later in the 1st year
of life. It is most prominent in the mucous membranes of the lips and mouth and
in the fingernails and toenails. In infants with severe degrees of right ventricular
outflow obstruction, neonatal cyanosis is noted immediately. In these infants,
pulmonary blood flow may be dependent on flow through the ductus arteriosus.
When the ductus begins to close in the 1st few hours or days of life, severe
cyanosis and circulatory collapse may occur. Older children with long-standing
cyanosis who have not undergone surgery may have dusky blue skin, gray sclerae
with engorged blood vessels, and marked clubbing of the fingers and toes.4
Dyspnea occurs on exertion. Infants and toddlers play actively for a short time and
then sit or lie down. Older children may be able to walk a block or so before
stopping to rest. Characteristically, children assume a squatting position for the
7
relief of dyspnea caused by physical effort; the child is usually able to resume
physical activity within a few minutes. These findings occur most often in patients
with significant cyanosis at rest.4
8
Because metabolic acidosis develops when arterial PO2 is less than 40 mm Hg,
rapid correction (within several minutes) with intravenous administration of
sodium bicarbonate is necessary if the spell is unusually severe and the child
shows a lack of response to the foregoing therapy. Recovery from the spell is
usually rapid once the pH has returned to normal. Repeated blood pH
measurements may be necessary because rapid recurrence of acidosis may ensue.
For spells that are resistant to this therapy, drugs that increase systemic vascular
resistance, such as intravenous methoxamine or phenylephrine, improve right
ventricular outflow, decrease the right-to-left shunt, and thus improve the
symptoms. β-Adrenergic blockade by the intravenous administration of
propranolol (0.1 mg/kg given slowly to a maximum of 0.2 mg/kg) is also useful.4
The pulse is usually normal, as is venous and arterial pressure. The left anterior
hemithorax may bulge anteriorly because of right ventricular hypertrophy. The
heart is generally normal in size, and a substernal right ventricular impulse can be
detected. In about half the cases, a systolic thrill is felt along the left sternal border
in the 3rd and 4th parasternal spaces. The systolic murmur is usually loud and
harsh; it may be transmitted widely, especially to the lungs, but is most intense at
the left sternal border. The murmur is generally ejection in quality at the upper
sternal border, but it may sound more holosystolic toward the lower sternal
border. It may be preceded by a click. The murmur is caused by turbulence
through the right ventricular outflow tract. It tends to become louder, longer, and
harsher as the severity of pulmonary stenosis increases from mild to moderate;
however, it can actually become less prominent with severe obstruction,
especially during a hypercyanotic spell. Either the 2nd heart sound is single, or the
pulmonic component is soft. Infrequently, a continuous murmur may be audible,
especially if prominent collaterals are present.4
9
levels are also diminished and are associated with prolonged prothrombin and
coagulation times.1
The hypertrophied right ventricle causes the rounded apical shadow to be up-tilted
so that it is situated higher above the diaphragm than normal. The cardiac
silhouette has been likened to that of a boot or wooden shoe (coeur en sabot).
Right atrial enlargement (25%) and right aortic arch (25%) may be present, which
results in an indentation of the leftward-positioned air-filled tracheobronchial
shadow in the anteroposterior view.2, 4
Two-dimensional echo and Doppler studies can make the diagnosis and quantitate
the severity of ToF. Two-dimensional echocardiography provides information
about the extent of aortic override of the septum, the location and degree of the
right ventricular outflow tract obstruction, the size of the proximal branch
pulmonary arteries, and the side of the aortic arch. The echocardiogram is also
10
useful in determining whether a PDA is supplying a portion of the pulmonary
blood flow. It may obviate the need for catheterization.4
Left ventriculography demonstrates the size of the left ventricle, the position of
the VSD, and the overriding aorta; it also confirms mitral-aortic continuity,
thereby ruling out a double-outlet right ventricle. Aortography or coronary
arteriography outlines the course of the coronary arteries. In 5–10% of patients
with the ToF, an aberrant major coronary artery crosses over the right ventricular
outflow tract; this artery must not be cut during surgical repair. Verification of
normal coronary arteries is important when considering surgery in young infants
who may need a patch across the pulmonary valve annulus. Echocardiography
may delineate the coronary artery anatomy; angiography is reserved for cases in
which questions remain.4
11
Treatment of the ToF depends on the severity of the right ventricular outflow tract
obstruction. Infants with severe ToF require medical treatment and surgical
intervention in the neonatal period. Therapy is aimed at providing an immediate
increase in pulmonary blood flow to prevent the sequelae of severe hypoxia. The
infant should be transported to a medical center adequately equipped to evaluate
and treat neonates with congenital heart disease under optimal conditions. It is
critical that oxygenation and normal body temperature be maintained during the
transfer. Prolonged, severe hypoxia may lead to shock, respiratory failure, and
intractable acidosis and will significantly reduce the chance of survival, even
when surgically amenable lesions are present. Cold increases oxygen
consumption, which places additional stress on a cyanotic infant, whose oxygen
delivery is already limited. Blood glucose levels should be monitored because
hypoglycemia is more likely to develop in infants with cyanotic heart disease.4
Infants with marked right ventricular outflow tract obstruction may deteriorate
rapidly because as the ductus arteriosus begins to close, pulmonary blood flow is
further compromised. The intravenous administration of prostaglandin E1 (0.05–
0.20 mg/kg/min), a potent and specific relaxant of ductal smooth muscle, causes
dilatation of the ductus arteriosus and usually provides adequate pulmonary blood
flow until a surgical procedure can be performed. This agent should be
administered intravenously as soon as cyanotic congenital heart disease is
clinically suspected and continued through the preoperative period and during
cardiac catheterization. Postoperatively, the infusion may be continued briefly as a
pulmonary vasodilator to augment flow through a palliative shunt or through a
surgical valvulotomy.4
Infants with less severe right ventricular outflow tract obstruction who are stable
and awaiting surgical intervention require careful observation. Prevention or
prompt treatment of dehydration is important to avoid hemoconcentration and
possible thrombotic episodes. Paroxysmal dyspneic attacks in infancy or early
childhood may be precipitated by a relative iron deficiency; iron therapy may
decrease their frequency and also improve exercise tolerance and general well-
being. Red blood cell indices should be maintained in the normocytic range. Oral
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propranolol (0.5–1mg/kg every 6 hr) may decrease the frequency and severity of
hypercyanotic spells, but with the excellent surgery available, surgical treatment is
indicated as soon as spells begin.4
Infants with symptoms and severe cyanosis in the 1st month of life have marked
obstruction of the right ventricular outflow tract or pulmonary atresia. Two
options are available in these infants: the first is a palliative systemic-to–
pulmonary artery shunt performed to augment pulmonary artery blood flow. The
rationale for this surgery, previously the only option for these patients, is to
decrease the amount of hypoxia and improve linear growth, as well as augment
growth of the branch pulmonary arteries. The second option is corrective open
heart surgery performed in early infancy and even in the newborn period in
critically ill infants. This approach has gained more widespread acceptance as
excellent short- and intermediate-term results have been reported. The advantages
of corrective surgery in early infancy vs a palliative shunt and correction in later
infancy are still being debated. In infants with less severe cyanosis who can be
maintained with good growth and absence of hypercyanotic spells, primary repair
is performed electively at between 4 and 12 month of age.4
Surgical
Shunt procedures are performed to increase pulmonary blood flow. Indications for
shunt procedures vary from institution to institution. Many institutions, however,
prefer primary repair without a shunt operation regardless of the patient's age.
Selected indications for shunt procedures follow:
13
Although other procedures were performed in the past only Blalock-Taussig and
Gore-Tex interposition shunt (i.e., modified Blalock-Taussig) procedures are
performed at this time. They have a surgical mortality rate of 1% or less.
Timing of this operation varies from institution to institution, but early surgery is
generally preferred.
14
Indications and Timing:
Total repair of the defect is carried out under cardiopulmonary bypass and
circulatory arrest. The procedure includes patch closure of the VSD and widening
of the right ventricular outflow tract by resection of the infundibular tissue and
placement of a fabric patch.2
For patients with uncomplicated ToF, the mortality rate is 2% to 3% during the
first 2 years. Patients at risk are those younger than 3 months and older than 4
years, as well as those with severe hypoplasia of the pulmonary annulus and
trunk. Other risk factors include multiple VSDs, large aortopulmonary collateral
arteries, and Down syndrome.2
Complications:
15
1. Bleeding problems may occur during the postoperative period, especially
in older polycythemic patients.
2. Pulmonary valve regurgitation may occur, but it is well tolerated.
3. CHF, although usually transient, may require anticongestive measures.
4. Right bundle branch block (RBBB) on the ECG caused by right
ventriculotomy, which occurs in over 90% of patients, is well tolerated.
5. Complete heart block (i.e., <1%) and ventricular arrhythmia are both rare.2
Rastelli Operation
Patients with severe hypoplasia or atresia of the right ventricular outflow tract and
those with coronary artery anomalies may have the procedure performed at about
5 years of age, at which time adult-sized homograft-valved conduits can be used.
The mortality rate for this procedure is 10% or less.2
Postoperative Follow-up
16
CASE
Physical examination
Consciousness was alert, body weight 10 kg, body length 85 cm, body
temperature 38,3 oC. Body weight/ Body length: 100%
There were no pale, icterus, and edema but dyspnea and cyanosis (+)
17
Abdominal : Soepel
Extremities : Pulse was 100 tpm, reg, normal tone and volume
Treatment:
Planning:
FOLLOW-UP
18
O: Consciousness was alert, T: 36,9 oC, BW 10 kg
Ears: Normal
Abdominal : Soepel
Extremities : Pulse was 100 tpm, reg, normal tone and volume
Treatment:
19
- Cefotaxim injection 500 mg/12 hours IV (day 1, 2, 3)
- Propanolol 3 x 10 mg
- Diet 1000 kkal + 20 gr protein
- Hb : 14,5 g/dl
- Hct : 50,1 %
- Plt : 191 fl
- Na/K/Cl : 132/4,3/100
- pH : 7,12
- pCO2 : 32,7
- PO2 : 24,4
- Bicarbonate : 12,4
20
February 1st - February 4th 2010
Ears: Normal
Abdominal : Soepel
Extremities : Pulse was 112 tpm, reg, normal tone and volume
21
Treatment:
Ears: Normal
Abdominal : Soepel
22
Peristaltis was normal
Extremities : Pulse was 108 tpm, reg, normal tone and volume
Treatment:
- Hb : 14,6 g/dl
- Hct : 52,7 %
- Plt : 231 fl
- LED : 17 mm/jam
- Na/K/Cl : 138/4,1/109
23
Kidney Profile:
- Ureum : 8,7 mg/dl
- Creatinin : 0,17 mg/dl
- Uric acid : 5,3 mg/dl
Liver Profile:
- SGOT : 38,3 U/L
- SGPT : 8,1 U/L
- Total billirubin: 0,869 mg/dl
- Direct bilirubin: 0,295 mg/dl
Hepar Profile:
- Alkaline phosphatase: 117 U/L
• The patient is a candidate for total correction based on the Cardio Thoracic
Surgery conference results.
DISCUSSION
ToF patients can present with severe cyanosis or can be asymptomatic without
clinically evident cyanosis. The skin, lips, and mucous membranes inside the
mouth and nose take on a noticeably dusky blue color. The child usually tires
easily and begins panting with any form of exertion. The child may play for only a
short time before sitting or lying down. Once able to walk, the child often assumes
a squatting position to catch his or her breath and then resumes physical activity.
Squatting increases the pressure transiently in the aorta and left ventricle, causing
less blood to move into the left ventricle, more out the pulmonary artery to the
lungs. Episodes of extreme blue coloring occur in many children, usually in the
first 2-3 years of life. The child suddenly becomes blue, has difficulty breathing,
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and may become extremely irritable or even faint. The spells often happen during
feeding, crying, straining, or on awakening in the morning. In this case, patient
was a 6 years old girl with the main complaint was dyspnea. Dyspnea occurs on
exertion. Characteristically, If exhausted the patient assumes a squatting position.
It was found since the age 1 year. Hypoxic spells occur in the patient since the age
of 1 year. These spells usually occur in the morning after crying, feeding, or
defecation. The spells may last from a few minutes to a few hours.2, 4
25
6 hour) may decrease the frequency and severity of hypercyanotic spells. Placing
the child in the knee-chest position (to increase venous return), and giving
morphine sulfate (to relax the pulmonary infundibulum and for sedation). If
necessary, the systemic vascular resistance can be increased acutely through the
administration of an α-adrenergic agonist (phenylephrine). If spells are frequent,
β-adrenergic antagonists (propranolol) decrease muscular spasm.3
• Closing the ventricular septal defect (VSD) – the hole in the inner wall of
the heart between the lower chambers. A patch is used to cover the hole.
This cover stops the mixing of blood between the chambers. The oxygen-
rich blood now flows out of the heart only to the body, and the oxygen-
poor blood goes to the lungs.
• Opening and enlarging the area that blood flows through as it leaves the
lower right side of the heart. The thickened heart muscle is opened, or a
small amount of heart muscle is removed. This improves the flow of
oxygen-poor blood to the lungs so that it can pick up more oxygen.
• Opening or widening the pulmonary valve (between the right ventricle and
the pulmonary artery). The valve can be opened using a special
instrument, but often a patch is sewn on the heart to make the narrow area
bigger. This increases blood flow out of the heart to the lungs.5
Some patients are too weak to have open-heart, corrective surgery. They have
temporary surgery, which does not repair the defects of ToF, but partially
improves oxygen levels in the blood to give the baby time to grow and get
stronger so the problem can be fixed later. Instead of open-heart surgery, a
small opening can be made between the ribs.
• Placing a tube (called a shunt) between a large artery branching off the
aorta and the pulmonary artery.
26
• One end of the shunt is sewn to the pulmonary artery, and the other end is
sewn to an artery branching off the aorta. This creates an additional
pathway for blood to travel to the lungs.
• This new pathway allows some of the blood in the aorta to flow through
the tube into the pulmonary artery, where it travels to the lungs to pick up
oxygen.
• The shunt is removed when heart defects are repaired during the corrective
surgery.5
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References
Medscape. Shabir Bhimji, MD, PhD. Tetralogy of Fallot. 2008 May 1 (last
updated). Available from: http://emedicine.medscape.com/article/163628-
overview
Myung K. Park MD, FAAP, FACC. Pediatric Cardiology for Practitioners. 4th ed.
Missouri. Mosby; 2002
1. Kliegman RM, Marcdante KJ, Jenson HB, Behrman RE. Nelson Essentials
of Pediatrics. 5th ed. Pennsylvania. Saunders; 2007
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