CASE REPORT

TETRALOGY OF FALLOT

Compiled By:
Claudy Bunga H. S.

110100347

Supervisor :
dr. Muhammad Ali, Sp.A(K)
CHILD HEALTH DEPARTMENT
HAJI ADAM MALIK GENERAL HOSPITAL
FACULTY OF MEDICINE
SUMATERA UTARA UNIVERSITY
MEDAN
2015

CONTENTS
CHAPTER I INTRODUCTION
1.1.
1.2.

Background
Objective

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3
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CHAPTER II LITERATURE REVIEW ....................................................

2.1. Definition ........................................................................................

2.2. Historical Information ....................................................................

2.3. Epidemiology

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2.4. Etiology ........................................................................................

2.5.Embriology ......................................................................................

2.6.Anatomy .......................................................................................

2.7. Pathophisiology and Circulation in TOF.......................................

11

2.8. Diagnosis ......................................................................................

14

2.9. Treatment......................................................................................

19

2.10.Prognosis......................................................................................

28

2.11.Complication...............................................................................

29

CHAPTER III CASE REPORT

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CHAPTER IV DISCUSSION & SUMMARY

30

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45

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45

4.2. Summary ..................................................................................

46

4.1. Discussion
REFERENCES

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47

CHAPTER I
INTRODUCTION
1.1 Background
Tetralogy of Fallot is a cyanotic congenital abnormalities most frequently. Prevalention is 3-6
of every 10.000 live birth, and accounts for 7-10% all congenital cardiac malformation 1.
Tetralogy of Fallot is a congenital malformation that consists of an interventricular
communication, also known as a ventricular septal defect, obstruction of the right ventricular
outflow tract, override of the ventricular septum by the aortic root, and right ventricular
hypertrophy. 2
The etiology is multifactorial, but reported associations include untreated maternal
diabetes, phenylketonuria, and intake of retinoic acid. Associated chromosomal anomalies
can include trisomies 21, 18, and 13, but resence experience points to much frequent
association of microdeletions of chromosome 22. The risk of reccurence in families is 3%.2,3
The clinical features of tetralogy of Fallot are directly related to the severity of the
anatomic defects. Infants often display the following:Difficulty with feedingFailure to
thrive Episodes of bluish pale skin during crying or feeding (ie, "Tet" spells) Exertional
dyspnea, usually worsening with age Physical findings include the following: Most infants
are smaller than expected for ageCyanosis of the lips and nail bed is usually pronounced at
birthAfter age 3-6 months, the fingers and toes show clubbing. A systolic thrill is usually
present anteriorly along the left sternal border. A harsh systolic ejection murmur (SEM) is
heard over the pulmonic area and left sternal border . 4
The clinical features of tetralogy of Fallot are generally typical, and
a preliminary clinical diagnosis can almost always be made. Because most infants with
this disorder require surgery, it is fortunate that the availability of cardiopulmonary bypass
(CPB), cardioplegia, and surgical techniques is now well established. Most surgical series
report excellent clinical results with low morbidity and mortality rates.4
1.2 Objective
This paper is completed in order to fulfill one of the requirements in the Senior Clinical
Assistance program in Department of Child Health of Haji Adam Malik General Hospital,
University of North Sumatera. In addition, this paper passes the knowledge of tetralogy of
Fallot and its management.
3

CHAPTER II
LITERATURE REVIEW
2.1.

Definition

Tetralogy of fallot results form a single development defect : an abnormal anterior and
cephalad displacement of the infandibular portion of the interventricular septum. The
consequences of this deviations are obstruction of the right ventricular outflow (pulmonary
stenosis), ventricular septal defect (VSD), overriding aorta that receives blood from both
ventricles, and right ventricuar hypertrophy owing to the high pressure load placed on the
RV by the pulmonalic stenosis.1
2.2.

Historical Information

The first anatomic description of this malformation is credited to the Danish anatomist
Niels Stensen, in 1672. It was Fallot, however, in 1888 who correlated the pathologic and
clinical manifestations of this cardiac malformation, which he termed la maladie bleue. He
found the characteristic anatomy at autopsy in two patients with long-standing cyanosis.
Subsequently, Fallot prospectively diagnosed a cyanotic patient and was proven correct at
the time of the postmortem examination.
The evolution of surgical treatment for cyanotic heart disease was closely linked to
TOF. In 1945, Alfred Blalock, Vivien Thomas, and Helen Taussig conceived of and
implemented the first surgical aortopulmonary shunt for palliation of cyanosis in a young girl
with TOF. Further innovation culminated in the evolution of cardiopulmonary bypass and
intracardiac correction of congenital heart lesions. Ten years after Blalock and Taussig first
reported theirs and Thomas' landmark accomplishment, Lillihei achieved intracardiac repair,
using controlled cross-circulation, in a young boy with TOF. Subsequent decades have
resulted in further refinements of surgical techniques so that intracardiac repair, in even
young infants, is commonplace.2,3
2.3. Epidemiology
Tetralogy of Fallot is one of the most common, if not the most common, form of cyanotic
congenital heart disease (CHD). The prevalence of TOF varies between studies whose
designs differ substantially in methods of ascertainment, diagnostic techniques, length of
4

follow-up, and morphologic classification of defects. For example, some of the investigations
measuring the prevalence of TOF in live births were performed prior to the consistent
identification and reporting of CHD, and most were performed prior to the use of
echocardiography. However, the more recent use of echocardiography significantly impacts
on the ascertainment of cardiac defects and the accuracy of diagnosis. Moreover, if sufficient
follow-up was not performed, then some patients might be overlooked or misclassified as
simple ventricular septal defects with pulmonary stenosis (PS) rather than TOF. In addition,
most studies group all forms of TOF together regardless of pulmonary valve anatomy, so that
the specific prevalence of TOF with PS rather than PA or APV is not usually defined.3
Together, a number of studies indicate that the prevalence of TOF (regardless of
pulmonary valve morphology) ranges from 0.26 to 0.48 per 1,000 live births One recent
study from Malta reported a prevalence of 0.8 per 1,000 live births. The proportion of
patients with CHD who have TOF ranged from 3.5% to 9%. These studies also indicate that
CHD in general and TOF in particular appear to be equally prevalent in populations of
different race or ethnic background. 3
The Baltimoreae Washington Infant Study (BWIS), conducted between 1981 and
1989, is the most recent and perhaps most accurate study to assess the prevalence of the
different subtypes of TOF. The BWIS was a population-based study that ascertained any
infant diagnosed by either echocardiogram, cardiac catheterization, cardiac surgery, or
autopsy with CHD within 1 year of life in the Baltimorae Washington area. This study,
therefore, increased ascertainment and definition of lesions by extensive investigation in a
defined area, use of echocardiography, and sufficient follow-up to identify presumably all
cases. In this study, TOF occurred in 0.33 per 1,000 live births, was the fifth most common
defect overall, accounting for 6.8% of all forms of CHD, and was the most common form of
cyanotic CHD . Of those with TOF, 79.7% had TOF with PS, as compared with 20.3% with
TOF and PA.
In particular, TOF with PS had a prevalence of 0.26 per 1,000 live births and
accounted for 5.4% of all of the lesions observed in the BWIS cohort . As was suggested by
previous studies, the BWIS demonstrated a male predominance in patients who had TOF with
PS (56.4% male), although this did not reach statistical significance as compared with the
control group. Furthermore, there was no difference in the prevalence of CHD or in the
distribution of cases between the different races as compared with the control population.4

2.4.

Etiology

The cause of Tetralogy of Fallot is unknown. There are multifactorial etiology; includes
both environmental and genetic factors that most likely interact with one another in certain
cases. A study from Portugal reported that methylene tetrahydrofolate reductase (MTHFR)
gene polymorphism can be considered a susceptibility gene for tetralogy of fallot 4
DiGeorge syndrome (characterized by pharingeal defects, hypocalcemia due to
absent parathyroid gland, and T cell dysfunction secondary hipoplasia of the thymus) is
associated with congenital abnormalities of the cardiac outflow tract, including tetralogy
of fallot, truncus arteriosus, and interupted aortic arch. Most patients with DiGeorge
syndrome have a microdeletion within chromosome 22 (22q11), a region that contains the
TBX1 gene. This gene encodes a transcription factor that appears to play critical role in
development patterning of the cardiac outflow tracts1
Prenatal factor associated with a higher insidence of tetralogy of fallot include
maternal rubella (or other viral infection) during pregnancy, poor prenatal nutrition,
maternal alcohol use, maternal age older than 40 years, maternal phenylketonuria birth
defects, and diabetes. Several environmental teratogens have been shown specifically to
increase the risk of developing TOF with PS, including maternal diabetes, retinoic acids,
maternal phenylketonuria (PKU), and trimethadione. The infant of an overtly diabetic
mother is at a threefold increased risk of developing TOF with PS (and at increased risk of
developing other conotruncal malformations) as compared with the infant of a nondiabetic
mother . Similarly, ingestion of retinoic acids during the first trimester of pregnancy is
associated with an increased risk of craniofacial, cardiovascular, and central nervous
system defects . The most frequent cardiovascular defects include TOF. Mothers with PKU
who do not control their dietary intake of phenylalanine during the pregnancy are also at
increased risk of having an infant with multiple anomalies including CHD, of which TOF
appears to be one of the more common defects.. Finally, maternal treatment with
trimethadione or paramethadione during the pregnancy has been associated with the
development of multiple anomalies, including cardiac septal defects and TOF2,3
2.5 Embriology
Normal development of the conotruncus involves proper septation and alignment of the
pulmonary and aortic outflow tracts above their respective ventricles. The embryologic
precursors to the ventricular outflow tracts and great arteries are the distal bulbus cordis and
6

truncus arteriosus, respectively. The anatomic transition point, between the bulbus cordis and
truncus arteriosus, coincides with the level at which the semilunar valves form from the
growth and fusion of the truncal-bulbar cushions. For purposes of discussion, this region
encompassing the distal bulbus cordis and truncus arteriosus will be referred to, in the
aggregate, as the conotruncus. 3
The conotruncus, in normal development, is initially rightwardly situated over the
embryologic right ventricle. This region undergoes a spatially complex process of rotation,
septation, and differential cell growth and death that results in the proper alignment of the
outlet septum with the ventricular trabecular septum. The transition between these two
structures is ultimately spanned and closed by the membranous septum. The net anatomic
result of this regional morphogenesis is the proper posterior alignment of the left outflow
tract with the left ventricle and establishment of aortic-mitral continuity. The right ventricular
outflow tract undergoes similar ultimate alignment with the right ventricle. In contrast to the
left ventricular outflow tract, however, the right ventricular outflow tract retains its muscular
properties in the form of a subpulmonic infundibulum, or conus. 3
The precise molecular and developmental mechanisms that are responsible for the
evolution of normal conotruncal anatomy remain uncertain. At the cellular level, the precise
spatial relationships required are, in part, orchestrated by regional differences in both cell
proliferation and senescence, or apoptosis. Both of these processes have been shown to be
active during conotruncal development in avian embryos. At a macroscopic level, the
anatomy seen in TOF is believed to result from incomplete rotation and faulty partitioning of
the conotruncus during septation. This process normally occurs by proper spatial growth and
rotation of the truncal-bulbar ridges. Malrotation of these ridges results in misalignment of
the outlet and trabecular septum and consequent straddling of the aorta over the malaligned
ventricular septal defect. The subpulmonic obstruction, then, is created by abnormally
anterior septation of the conotruncus by the bulbotruncal ridges. An alternate mechanism, put
forth by Van Praagh, postulates that hypoplasia and underdevelopment of the pulmonary
infundibulum are responsible for the infundibular obstruction and malalignment of the outlet
septum. Morphometric studies, however, have suggested that the subpulmonic infundibulum
in TOF is, in many hearts, normal or longer than normal. A clear mechanistic explanation for
abnormal conotruncal development thus remains uncertain3
2.6.

Anatomy

Although the eponym that carries Fallot's name refers to the tetrad of right ventricular
outflow obstruction, aortic override, ventricular septal defect, and right ventricular
hypertrophy, attempts to more fully define which anatomic findings are essential and
unique to TOF have generated much discussion. It is safe to say, however, that the most
characteristic and hallmark finding is the subpulmonic stenosis created by the deviation of
the outlet, or conal, septum. All patients with TOF demonstrate anterior and cephalad
deviation of this outlet septum, and the degree and nature of this deviation determine the
severity of subpulmonic obstruction. Moreover, the deviation of the conal septum can
explain the subsequent presence of both the ventricular septal defect and the overriding
aorta. Because in virtually all patients the ventricular septal defect is large and
nonrestrictive, the right ventricular hypertrophy is accepted to be secondary to the
resultant right ventricular hypertension 5
Pulmonic Stenosis
Significant subpulmonic obstruction exists in virtually all patients with TOF.
Pulmonary artery pressures are, consequently, normal or low. Furthermore, additional areas of
obstruction along the entire course of the right ventricular outflow tract and pulmonary
arteries commonly exist. In general, the more severe the proximal obstruction, the greater the
likelihood that other distal areas of obstruction will be present. In TOF with pulmonic
stenosis, however, only a few patients have prohibitively small pulmonary arteries from the
perspective of surgical repair. Distal obstruction to right ventricular output may be present
within the pulmonary valvular apparatus, supravalvular region, and both proximal and distal
pulmonary arterial bed. In the extreme case of pulmonary atresia and VSD, there may be
severe hypoplasia, or even absence, of true pulmonary arteries. In this setting, pulmonary
blood flow is often provided by the persistence of embryologic aortopulmonary collateral
arteries. 3

Subpulmonic Obstruction
The subpulmonic, or infundibular, obstruction in TOF is characterized by anterior and
cephalad deviation of the outlet, or infundibular, septum. This deviation of the outlet septum
results in muscular subvalvular narrowing. The obstruction is further exacerbated by
hypertrophy of the muscular outlet septum, the parietal right ventricular free wall, and
components of the septomarginal trabeculations. Anatomically, the outlet septum is normally
8

situated within the limbs of the septomarginal trabeculations and is aligned with the
trabecular septum that partitions the ventricular cavities. This transition zone between the
outlet and trabecular septum is normally closed by mesenchymal tissue and represents the
area of the perimembranous ventricular septum. The anterocephalad deviation of the outlet
septum, while resulting in muscular obstruction, also simultaneously gives rise to the large
perimembranous ventricular septal defect by virtue of the malalignment between the outlet
and trabecular septum.
Obstruction within the right ventricular body also may be present. There may be
hypertrophy of the septoparietal muscle bundles with further extension of muscle to the right
ventricular free wall. In addition, anatomic displacement of the normal moderator band
attachment is thought to contribute to intracavitary obstruction proximal to the infundibulum.
This muscular obstruction is referred to as anomalous right ventricular muscle bundles or by
the anatomic description, double-chambered right ventricle. This intracavitary obstruction
may be present prior to surgery, but it also can evolve following surgical correction. A
retrospective, medium-term follow-up study found that this type of obstruction evolved in
approximately 3% of patients following successful initial surgery.
Pulmonary Valvular and Arterial Anatomy
In addition to the subpulmonic obstruction, additional areas of stenoses are common
at the valvular and supravalvular levels. The pulmonary valve is commonly small and
stenotic. In a study by Rao et al., the pulmonary valve was found to be either bicuspid or
unicuspid in a majority of patientns. Moreover, there may be discrete supravalvular pulmonic
obstruction at the level of the attachments of the pulmonary leaflets.
The pulmonary arteries are also prone to focal or diffuse obstruction or hypoplasia.
Branch pulmonary artery obstruction, proximally or distally, is common. In cases of PA
demonstrating the absence of antegrade pulmonary output, true embryologic pulmonary
arteries are often absent or severely hypoplastic. In this situation, pulmonary blood flow is
provided by the persistence of aortopulmonary collateral arteries. In the setting of simple
TOF, with establisheantegrade flow into the pulmonary arteries, these aortopulmonary
collateral arteries are uncommon and less complex in distribution than with PA.
Most commonly seen with the left pulmonary artery, pulmonary artery anatomy may
be further complicated by narrowing or atresia of a branch pulmonary artery. Branch
pulmonary artery atresia is most commonly recognized in patients with pulmonary valve
atresia, but narrowing is not uncommon in children with antegrade pulmonary flow. It may
9

develop postnatally as a result of the closure of the ductus arteriosus and the subsequent
distortion of its insertion site as the ductal tissue involutes. 3,5

Ventricular Septal Defect

The ventricular septal defect in TOF most frequently has fibrous continuity between the
tricuspid and aortic valve, and hence may be considered a true perimembranous defect. This
type of anatomy was documented in 42 of 53 autopsy specimens with TOF . In the remaining
specimens, a rim of muscular tissue was present along the posterior and inferior rim of the
defect. In this situation, there is tricuspid-aortic discontinuity. In either scenario, however, the
ventricular septal defect arises as a result of the anterocephalad deviation of the outlet septum
and lies in a subarterial location.
In addition to the isolated large subarterial defect, additional ventricular septal defects
also may be present occasionally. There may be inlet extension of the subarterial defect, or, in
some patients, there may be an associated complete atrioventricular septal defect. Although
the ventricular septal defect is large and nonrestrictive by definition, a few patients may have
restrictive defects. In these patients, however, restriction results from the presence of
accessory or redundant tricuspid valve tissue. The accessory tissue attaches to the ventricular
septal crest or prolapses into the defect, resulting in obstruction. Although children with
supracristal VSD with valvar pulmonic stenosis or midcavitary subpulmonic stenosis lack the
characteristic anterior deviation of the conal septum, the physiologic outcome is within the
spectrum of TOF.
Aortic Override
The significance of aortic override primarily relates to terminology and in distinguishing
whether the anatomic entity in question is more appropriately deemed to be double-outlet
right ventricle or TOF. This issue may be avoided if the morphologic definition of doubleoutlet right ventricle is adopted. In this approach, double-outlet right ventricle denotes the
absence of aortic-mitral continuity and requires the presence of both a subaortic and
subpulmonic muscular conus. If using this definition, and avoiding questions of whether the
aorta is >50% committed to the right ventricle, the diagnoses of TOF and double-outlet right
ventricle become mutually exclusive. In any event, determination of the exact degree of
commitment of the aorta to either the right or left ventricle is somewhat subjective and may
vary with the imaging modality used.
10

It is clear, however, that aortic malposition in TOF is an anatomic reality. The degree
of aortic override in one echocardiographic study was in the range of 15% to 95% . In an
anatomically normal heart, the right aortic sinus does overlie the normal plane of the
ventricular septum. In the setting of a ventricular septal defect, then, the impression of some
straddling of the aorta over the defect would be present. This override is further accentuated
by the malaligned nature of the ventricular septal defect. Dilation of the aorta, which likely is
related to the malseptation of the conotruncus in TOF, further contributes to the impression of
an aorta committed to both ventricular outflow tracts. Finally, the aortic position does exhibit
additional rotational changes, with rotation of the right aortic sinus toward a more left and
anterior orientation than usual 3,5
2.7. Circulation and Pathophisiology Tetralogy and Fallot

The circled numbers represent oxygen saturation values. The numbers the next arrows
represent volumes decreased because of the sistemic hypoxemia. A volume of 3 L/min/m3
of desaturated blood enters the right atrium and traverses the tricuspid valve. Two liters
flows through the right ventricular outflow tract into the lungs, whereas 1 L shunts right to
left throught the ventricular septal defect (VSD) into the ascending aorta. Thus, pulmonary
blood flow into thirds normal (Qp: Qs (pulmonary to systemic blood flow ratio) of 0.7:1).
11

Blood returning to the left atrium is fully saturated. Only 2L of blood flows across the
mitral valve Oxygen saturation in the left ventricle may be slightly decreased because the
right to left shunting across the VSD. Two liters of saturated left ventricular blood mixing
with 1 L of desaturated right ventricular blood is ejected into the ascending aorta. Aortic
saturation is decreased, and cardiac output is normal. 6
The severity of tetralogy of fallot based by obstruction outflow of right ventricular
(pulmonal stenosis). If more severe pulmonary stenosis , then a lot of blood from the right
ventricle into the aorta. In mild stenosis, blood from right ventricle flow to pulmonal, and
shunt from right to left occurs only in physical activity. 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.
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 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
12

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). 6
2.8. Clinical Manifestations
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 yr 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. 6
Dyspnea occurs on exertion. Infants and toddlers play actively for a short time and
then sit or lie down.

All of these cases are dyspnea to a greater or lesser degree,

depending largely on the adequacy of the blood flow to the lungs 7.

Older children may be able to walk a block or so before stopping to rest.
Characteristically, children assume a squatting position for the 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. 6 The effect of
the acute flexion at knee and thigh may be to trap blood in the legs and so reduce the load
of returning venous blood to the heart. On the other hand, by increasing the systemic
vascular resistance the effect may be to divert more blood from the aorta to the lungs 3.

13

Paroxysmal hypercyanotic attacks (hypoxic, blue, or tet spells) are a

particular problem during the 1st 2 yr of life. The infant becomes hyperpneic and restless,
cyanosis increases, gasping respirations ensue, and syncope may follow. The spells occur
most frequently in the morning on initially awakening or after episodes of vigorous crying.
Temporary disappearance or a decrease in intensity of the systolic murmur is usual as flow
across the right ventricular outflow tract diminishes. The spells may last from a few
minutes to a few hours but are rarely fatal. Short episodes are followed by generalized
weakness and sleep. Severe spells may progress to unconsciousness and, occasionally, to
convulsions or hemiparesis. The onset is usually spontaneous and unpredictable. Spells are
associated with reduction of an already compromised pulmonary blood flow, which when
prolonged results in severe systemic hypoxia and metabolic acidosis. Infants who are only
mildly cyanotic at rest are often more prone to the development of hypoxic spells because
they have not acquired the homeostatic mechanisms to tolerate rapid lowering of arterial
oxygen saturation, such as polycythemia.6
Growth and development may be delayed in patients with severe untreated
tetralogy of Fallot, particularly when oxygen saturation is chronically less than 70%.
Puberty may also be delayed in patients who do not undergo surgery. 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. 6

2.9

Diagnosis
14

2.9.1

Antenatal Diagnosis

Tetralogy of Fallot can be diagnosed antenatally as early as 12 weeks of gestation. In a

population based study, however, only half of the cases were detected douring routine
obstetric ultrasonic screening. In general, patients who are referred for fetal echocardiography
with a suspicion of tetralogy of fallot have the most severe phenotype. Other reasons for
referral for foetal echocardiography include discovery of extra-cardiac malformations, or
known chromosomal abnormalities. As a result, patients referred for foetal echocardiography
tends to have worse outcomes when compared to patients who are diagnosed postnatally. The
fetus with tetralogy can be delivered vaginally but efforts should be made for deliverry to
occur in a centre where pediatric cardiologist are avalaible to aid in the postnatal care 3.
2.9.2 Anamnesis
The main complaint patients usually cyanosis, dyspnea, The clinical features of tetralogy
of Fallot (TOF) are directly related to the severity of the anatomic defects. Most infants
with tetralogy of Fallot have difficulty with feeding, and failure to thrive (FTT) is
commonly observed. 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. 7
At birth, some infants with tetralogy of Fallot do not show signs of cyanosis, but they
may later develop episodes of bluish pale skin during crying or feeding (ie, "Tet" spells).
Hypoxic tet spells are potentially lethal, unpredictable episodes that occur even in
noncyanotic patients with tetralogy of Fallot. The mechanism is thought to include spasm of
the infundibular septum, which acutely worsens the right ventricular (RV) outflow tract
obstruction (RVOTO). 2,3
A characteristic fashion in which older children with tetralogy of Fallot increase
pulmonary blood flow is to squat. Squatting is a compensatory mechanism, of diagnostic
significance, and highly typical of infants with tetralogy of Fallot. Squatting increases
peripheral vascular resistance (PVR) and thus decreases the magnitude of the right-to-left
shunt across the ventricular septal defect (VSD). Exertional dyspnea usually worsens with
age. Occasionally, hemoptysis due to rupture of the bronchial collaterals may result in the
older child. The rare patient may remain marginally and imperceptibly cyanotic, or acyanotic
15

and asymptomatic, into adult life.Cyanosis generally progresses with age and outgrowth of
pulmonary vasculature and demands surgical repair.3,7
2.9.3. Physical Examination
Most infants with tetralogy of Fallot (TOF) are smaller than espected for age. Cyanosis of
the lips and nail bed is usually pronounced at birth, after age 3-6 months, the fingers and
toes show clubbing.
Fingger clubbing is a charateristic feature of the condition, the degree of clubbing
is usally proportional to the severity of the cyanosis. The toes also show clubbing and in
severely cyanotic cases the tip of the nose also may be clubbed. 7
A systolic thrill is usually present anteriorly along the left sternal border. A harsh
systolic ejection murmur is heard over the pulmonic area and left sternal border. When the
right ventricular outflow tract obstruction is moderate, the murmur may be inaudible. The
S2 is usually singgle dissappear, which is suggestive of lessened RV outflow to the
pulmonary arteries. In individuals with aortopulmonary collaterals, continuous murmurs
may be auscultated. Thus, an acyanotic patient with tetralogy of fallot (pink tet) has a long,
loud, systolic murmur with a thrill along the RVOT. 3,6
2.9.4 Laboratorium Examination
Hemoglobin and hematocrit values are usually elevated in proportion to the degree
cyanosis. Prolonged syanosis causes reactive polycthemia that increases oxygen-carrying
capacity. The oxygen saturation in systemic arterial blood typically varies from 65-70%.
All patients with tetralogy of Fallot who expriance significant cyanosis have a tendency to
bleed because of decreassed clotting factors and low platelet count. Hyperviscosity and
coagulapathy often ensue and are particulary deleterious in patients with a right to left
intracardiac shunt. The usual findings are deminshed coagulation factors and diminished
total fibrinogen, which are associated with prolonged prothrombin and coagulation times.
Arterial blood gas results show varying oxygen saturation, but ph and partial
pressure of carbon dioxide (Pco2) are normal, unless the patient is in extremis, such as
during a tet spell. 3,7
2.9.5 Radiography
The total heart size is usually normal on chest roentgenography, but right ventricular
enlargement is present in the lateral view. The aorta arches to the right in many cases.
Pulmonary flow is diminished. The pulmonary segment is concave and the apex is
16

elevated, giving the coeur en sabot (boot-shaped) contour. A very young infant may have
only diminished pulmonary flow. 3,6

Picture 1 Roentgenogram of an 8-yr-old boy with the tetralogy of Fallot6

2.9.6 Electrocardiogram
EKG in neonates are not different from normal children. The electrocardiogram demonstrates
right axis deviation and evidence of right ventricular hypertrophy. A dominant R wave
appears in the right precordial chest leads or an RSR pattern. In some cases, the only sign of
right ventricular hypertrophy may initially be a positive T wave in leads V3R and V1. The P
wave is tall and peaked or sometimes bifid. 6,7
2.9.7. Echocardiography
Echocardiography is a gold standart for diagnosis tetralogy of fallot. Two-dimensional
echocardiography establishes the diagnosis and 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 useful in determining whether a PDA is supplying a portion
of the pulmonary blood flow. It may obviate the need for catheterization. 3,6,7

17

Picture 2 Echocardiogram in a patient with the tetralogy of Fallot. This short-axis,

subxiphoid, two-dimensional echocardiographic projection demonstrates anterior/superior
displacement of the outflow ventricular septum that resulted in stenosis of the subpulmonic
right ventricular outflow tract and an associated anterior ventricular septal defect (VSD). RV
= right ventricle; AO = overriding aortic valve; LV = left ventricle.
2.9.8 Cardiac Catheterization and Angiography
There is a higher than usual risk associated with cardiac cathterization because of the
frequency of rhythm disturbances. Proper precautions and prompt use of cardioversion
when necessery minimize this risk. In most cases, echocardiography and color Doppler
evaluation are sufficient, and catheterization is performed less comonly than it was
previously. 7
Cardiac catheterization was not required when palliative surgery like

surgery

Blalock Tausig. Catheterization was performed before surgery aims to determine the multiple
ventricular septal defects (5%) , abnormalities of the coronary arteries (5%) and pulmonary
stenosis (28%) 8
Cardiac catheterization demonstrates a systolic pressure in the right ventricle equal
to systemic pressure. If the pulmonary artery is entered, the pressure is markedly
decreased, although crossing the right ventricular outflow tract, especially in severe cases,
may precipitate a tet spell. Pulmonary arterial pressure is usually lower than normal, in the
range of 510mm Hg. The level of arterial oxygen saturation depends on the magnitude of
the right-to-left shunt; in pink tets, systemic saturation may be normal, whereas in a
moderately cyanotic patient at rest, it is usually 7585%.
Selective right ventriculography best demonstrates the anatomy of the tetralogy of
Fallot. Contrast medium outlines the heavily trabeculated right ventricle. The infundibular
18

stenosis varies in length, width, contour, and distensibility. The pulmonary valve is usually
thickened, and the annulus may be small. In patients with pulmonary atresia and VSD, the
anatomy of the pulmonary vessels may be extremely complex, for example, discontinuity
between the right and left pulmonary arteries. Complete and accurate information
regarding the anatomy of the pulmonary arteries is important when evaluating these
children as surgical candidates. 7
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. 7
Aortography or coronary arteriography outlines the course of the coronary
arteries. In 510% of patients with the tetralogy of Fallot, 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.7

2.10. Treatment
Treatment of the tetralogy of Fallot

consisted of medical treatment and surgery. Two

manangement is supported each other, medical management is necessary for preparation of

preoperative and postoperative surgery.6
Treatment of the tetralogy of Fallot depends on the severity of the right ventricular
outflow tract obstruction. Infants with severe tetralogy 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
19

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. 7

2.10.1. Hypercyanotic Spell

Management of patients with hipersianosis spel in which patients should be placed the
infant on the abdomen in the knee-chest position while making certain that the infant's
clothing is not constrictive, . It aims to increase systemic vascular resitensi and lowering
the systemic venous return.
Oxygen is given to reduce the peripheral pulmonary vasoconstriction and increase
oxygenation to the lungs after blood flow to the lungs is balanced. Injection of morphine
subcutaneously in a dose not in excess of 0.2mg/kg. Calming and holding the infant in a
knee-chest position may abort progression of an early spell. Premature attempts to obtain
blood samples may cause further agitation and be counterproductive.7
Because metabolic acidosis develops when arterial PO2 is less than 40mm 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. 8
The above treatment is expected that children no longer tachypnea , reduced
cyanosis and the child becomes quiet . If does not happen , it can be continued with this
management :
-

Injection -Adrenergic blockade by the intravenous administration of propranolol

(0.01mg/kgBB -0.025 mg/kgBB given slowly). Total dose reconstituted with 10 ml of
liquid in the syringe . Initial dose is given half with iv bolus . If the attack is not
resolved , give the rest gradually within 5 to - 10 minutes . At each injection
propanalol , isoprotenol should be prepared to cope with an overdose

20

Ketamin 1-3 mg/kgBB (the mean= 2 mg/kgBB) IV gradually (60 seconds). Ketamin
works by increasing systemic vascular resistance and as a sedative.

Drugs that increase systemic vascular resistance, intravenous phenylephrine 0.02

mg/kgBB, improve right ventricular outflow, decrease the right-to-left shunt, and thus
improve the symptoms.

Awarding body fluid volume with intravenous fluids can be effective in the treatment
of attacks of cyanosis. blood volume could affect the level of obstruction . The
addition of the blood volume can also increase cardiac output , thereby increasing
blood flow to the lungs and systemic blood flow carrying oxygen throughout the body
also increases. 8

2.10.2

Infant and child with cyanosis history

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 propranolol (0.51mg/kg every 6hr) may decrease the
frequency and severity of hypercyanotic spells, but with the excellent surgery available,
surgical treatment is indicated as soon as spells begin.
Infants with symptoms and severe cyanosis in the 1st mo 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-topulmonary 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

21

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 mo of age.
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 (0.050.20mg/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. 6,7,8

2.10.3 Interventional Catheterization Procedures

Most interventional procedures, when performed for patients with TOF, are undertaken owing
to two general indications: Relief of various levels of pulmonary obstruction and
embolization of accessory and duplicated sources of pulmonary blood flow. The frequency
and indications for catheter-based intervention are to a large degree determined by clinician
and institutional preferences, which are then weighed against the relative risks and benefits of
surgical intervention at any given age. In the preoperative setting, palliation of significant
cyanosis by balloon valvuloplasty or right ventricular outflow tract stent placement has been
advocated by some as a means for reducing symptomatic cyanosis in patients with severe
annular hypoplasia Improvement in antegrade flow is thought to simultaneously enhance
pulmonary arterial growth by augmenting pulmonary blood flow. The indication for palliation
in this setting assumes that definitive surgical intervention may be done more safely and
appropriately at an older age. Similarly, this approach avoids any possible surgical
complications and or pulmonary artery distortion that may be seen following a modified
Blalockae Thomase Taussig shunt. Coil embolization of aortopulmonary collateral arteries is
also an appropriate intervention prior to surgical correction. Coiling of vessels that perfuse
pulmonary segments already supplied by pulmonary arterial flow serves to reduce left
22

ventricular volume loading as well as to eliminate runoff into the pulmonary arterial bed
during cardiopulmonary bypass.
In the postoperative setting, balloon angioplasty including with cutting balloons and
stenting provide important tools with which to address any residual pulmonary arterial
obstruction, especially distal obstruction not readily accessible from a median sternotomy.
Success rates for these procedures are substantial with overall low morbidity. Intra-arterial
stent placement may be used when simple angioplasty provides inadequate relief. This
usually is because of vessel recoil, which precludes sustained relief of stenosis with
angioplasty alone.7
Surgical Intervention
Given the trend toward earlier complete repair for TOF, the frequency with which palliative
procedures such as the modified Blalockae Thomasae Taussig shunt are performed has
decreased. There are potential shortcomings with performing an initial palliative procedure,
including pulmonary artery distortion, additional ventricular volume loading, and the surgical
risk attendant with a thoracotomy. Improvements in the comprehensive surgical approach
have led to the assertion by some but not all centers that all patients with simple TOF should
be able to undergo primary repair without additional palliative procedures . Exceptions to this
approach might include neonates with severe pulmonary artery hypoplasia and some patients
with an aberrant course of the anterior descending coronary artery from the right coronary
artery.
Surgical correction of TOF is directed at relieving all possible sources of right
ventricular outflow tract obstruction. If anatomically and surgically possible, pulmonary
valve function is preserved by avoiding a transannular patch. Cardiopulmonary bypass is
initiated through a median sternotomy. Deep hypothermia with circulatory arrest is usually
not needed even in infants. In older patients, correction may be performed using moderate
hypothermia. For purposes of right ventricular outflow tract patching, glutaraldehyde-treated
pericardium may be used and is harvested while cooling takes place. Alternatively, either
synthetic patch material may be used.
After cooling, the aorta is cross-clamped and cardioplegic solution is given. A vertical
infundibular and right ventricular incision is then made. If the pulmonary annulus is
prohibitively hypoplastic, then the incision is carried across the annular valvular apparatus. If
the pulmonary annulus is of adequate size, then the annulus may be spared. The decision to
place a transannular patch rests, in part, on appearance and on the subjective impression of
the surgeon at the time of operation. A preoperative Z value for the pulmonary valve annulus
23

of-2 correlated with an elevated postoperative right:left ventricular pressure ratio in a series
by Kirklin et al.. Their recommendations were that a transannular patch be used for patients
with this extent of annular hypoplasia. The incision in the pulmonary artery may further be
extended onto either branch pulmonary artery if needed to relieve any additional stenosis.
Exposure through the ventriculotomy also allows for resection of any significant muscle
bundles and infundibular obstruction, thus further improving exposure for the ventricular
septal defect repair. Pulmonary valvae sparing operations in infancy may be possible with
pulmonary valve annulus Z-scores of -4 with acceptable postoperative right ventricular
pressures and reoperation rates .For patients with a transannular patch, the placement of a
monocusp pericardial valve can potentially reduce the pulmonary regurgitation, but it may
not significantly impact on mortality, hospital length of stay, or postoperative hemodynamics.
The ventricular septal defect may be closed from either a ventricular or atrial
approach. A combined transatrial and transpulmonary approach has been proposed as a
reliable and safe method for complete repair in infants and young children. This approach
avoids a ventriculotomy if a transannular patch is not required and a very limited one if the
annulus needs to be crossed. Resection of significant right ventricular obstruction can be
achieved through an atrial exposure, if required. Importantly, this approach has been
advocated as a means for avoiding homograft interposition for patients with surgically
important coronary artery anomalies. This approach was successful in 34 of 36 patients in a
study by Brizard et al. The ventricular septal defect is closed using a Dacron patch. The
defect may be closed using either continuous or interrupted sutures reinforced with Teflon
pledgets. The sutures, along the posterior inferior border, are anchored to the rim of fibrous
tissue along that aspect of the tissue, which is free of conduction tissue, or alternatively, to the
muscular septum away from the defect rim. If there is significant hypoplasia or absence of the
conal septum, the anterosuperior aspect of the patch is sewn to partition the fibrous tissue that
separates the aortic from the pulmonary valve. Any significant ASDs may be closed, although
a small patent foramen ovale may be left as a possible source for right-to-left atrial
decompression in the postoperative period.3
The presence of significant aortopulmonary collateral arteries or a patent ductus
arteriosus does alter surgical strategy significantly. Precise preoperative definition of the
vessels is imperative to accurately guide perioperative management. Collateral arteries, which
constitute the sole source of blood flow to a pulmonary segment, are snared prior to initiation
of bypass and incorporated into the final repair. This may require an initial procedure via
thoracotomy to bring the vessel to an area of the chest that may be reached during surgery.
24

Vessels that provide duplicate flow to a lung segment should be coiled prior to surgical repair
to eliminate a steal phenomenon during cardiopulmonary bypass with the associated risk of
neurologic sequelae.3,6,7
2.10.4 Palliative Procedures
The modified Blalock-Taussig shunt is currently the most common aortopulmonary shunt
procedure and consists of a Gore-Tex conduit anastomosed side to side from the
subclavian artery to the homolateral branch of the pulmonary artery Sometimes the
conduit is brought directly from the ascending aorta to the main pulmonary artery and is
called a central shunt. The Blalock-Taussig operation can be successfully performed in the
newborn period with shunts 34mm in diameter and has also been used successfully in
premature infants.7
For patients who have severe pulmonary arterial hypoplasia, these procedures do
provide some augmentation of pulmonary blood flow and probably do encourage further
arterial growth. Unfortunately, in this situation they do not provide a consistent route by
which balloon angioplasty may be performed. Right ventricular outflow tract patching may
be used on occasion to establish additional antegrade flow into the hypoplastic pulmonary
arteries while simultaneously providing a route by which catheter-based rehabilitation of the
pulmonary arteries may take place. This clearly is indicated only in the small subset of
patients with very diminutive pulmonary arteries because in this situation the ventricular
septal defect remains open and would otherwise result in severe pulmonary overcirculation. If
there is concern about severe right ventricular hypertension because of marginal pulmonary
artery size and anatomy, the ventricular septal defect patch may be fenestrated to allow right
ventricular decompression.
Waterston shunts (anastomosis of the ascending to the right pulmonary artery) or Potts
shunts (descending aorta to left pulmonary artery) are largely of historical interest but will
occasionally have been performed in patients who are now seen as young adults. Both
procedures resulted in a significant incidence of pulmonary artery distortion along with
inconsistent transmission of flow and pressure to the pulmonary arterial bed. Pulmonary
arterial stenosis or evolution of pulmonary vascular disease precluded routine use of these
palliative procedures. 7

25

The postoperative course of patients with a successful shunt procedure is relatively

uneventful. Postoperative complications may occur after a lateral thoracotomy and include
chylothorax, diaphragmatic paralysis, and Horner syndrome. Chylothorax may require
repeated thoracocentesis and, on occasion, reoperation to ligate the thoracic duct.
Diaphragmatic paralysis from injury to the phrenic nerve may result in a more difficult
postoperative course. Prolonged ventilator support and vigorous physical therapy may be
required, but diaphragmatic function usually returns in 12 mo unless the nerve was
completely divided. Surgical plication of the diaphragm may be indicated. Horner
syndrome is usually temporary and does not require treatment. Postoperative cardiac
failure may be caused by a large shunt. Vascular problems other than a diminished radial
pulse and occasional long-term arm length discrepancy are rarely seen in the upper
extremity supplied by the subclavian artery used for the anastomosis.7
After a successful shunt procedure, cyanosis diminishes. The development of a
continuous murmur over the lung fields after the operation indicates a functioning
anastomosis. A good shunt murmur may not be heard until several days after surgery. The
duration of symptomatic relief is variable. As the child grows, more pulmonary blood flow
is needed and the shunt eventually becomes inadequate. When increasing cyanosis
develops, a corrective operation should be performed if the anatomy is favorable. If not
possible (e.g., because of hypoplastic branch pulmonary arteries) or if the 1st shunt lasts
only a brief period in a small infant, a second aortopulmonary anastomosis may be
required on the opposite side. Several groups have reported successful palliation of the
tetralogy of Fallot in infants by balloon pulmonary valvuloplasty.3,7

2.10.5 Surgical Results

Current surgical survival, even for symptomatic infants younger than 3 months of age, is
excellent. Hospital and 1-month survival rates of 100% have been reported in this patient
population. Intensive care morbidity is increased for those repaired in the first 3 months of
life . In the study from the University of Michigan , there were no late deaths in the TOF with
PS group at median follow-up of 24 months. In this group, however, 25% required
reoperation for various indications, including residual pulmonary arterial obstruction and
right ventricular obstruction. These indications for reoperation varied substantially from those
in older patients, for whom repair of a residual ventricular septal defect was a much more
26

common indication. Strategies to further improve the reoperation rate are principally aimed at
reducing any residual outflow tract or pulmonary arterial obstruction, especially at the site of
insertion of the ductus arteriosus. A larger, long-term analysis of results of both single- and
two-stage repair strategies for TOF with PS documented a relatively favorable outcome for
all single-stage early repair via a transatrial approach. There were no statistical differences in
the need for reintervention because of residual outflow tract obstruction for patients
undergoing primary versus staged repair. Earlier age at repair (<1 year of age) similarly did
not adversely affect the rate of reintervention, leading investigators to conclude that primary
repair should be regarded as the preferred management strategy, an assessment that has been
echoed by other groups. Twenty-year survival for hospital survivors, irrespective of
management strategy, was 98% for patients who have TOF with PS and slightly lower for
patients with PA, reflecting the overall excellent long-term survival of these patients
Corrective surgical therapy consists of relief of the right ventricular outflow tract
obstruction by removing obstructive muscle bundles and patch closure of the VSD. If the
pulmonary valve is stenotic, a valvotomy is performed. If the pulmonary valve annulus is
small or the valve is extremely thickened, a valvectomy may be performed, the pulmonary
valve annulus split open, and a transannular patch placed across the pulmonary valve
ring. Any previously established systemic-to-pulmonary shunt must be obliterated before
full repair. The surgical risk of total correction is less than 5%. A right ventriculotomy was
the standard approach; however, a transatrial-transpulmonary approach can be used to
reduce the long-term risks of a ventriculotomy. Increased bleeding in the immediate
postoperative period may be a complicating factor in extremely polycythemic patients.
After

successful

total

correction,

patients

are

generally

asymptomatic and are able to lead unrestricted lives. Immediate postoperative problems
include right ventricular failure, transient heart block, residual VSD with left-to-right
shunting, myocardial infarction from interruption of an aberrant coronary artery, and
disproportionately increased left atrial pressure because of residual bronchial collaterals.
Postoperative heart failure (particularly in patients with a transannular outflow patch)
requires a positive inotropic agent such as digoxin. The long-term effects of isolated,
surgically induced pulmonary valvular insufficiency are unknown, but insufficiency is
generally well tolerated. The majority of patients after tetralogy repair and all of those
with transannular patch repairs have a to-and-fro murmur at the left sternal border, usually
indicative of mild outflow obstruction and mild to moderate pulmonary insufficiency.
27

Patients with more marked pulmonary valve insufficiency also have moderate to marked
heart enlargement. Patients with a severe residual gradient across the right ventricular
outflow tract may require reoperation, but mild to moderate obstruction is virtually always
present and does not require re-intervention.
Follow-up of patients 520 yr after surgery indicates that the marked improvement
in symptoms is generally maintained. Asymptomatic patients have lower than normal
exercise capacity, maximal heart rate, and cardiac output. These abnormal findings are
more common in patients who underwent placement of a transannular outflow tract patch
and may be less frequent when surgery is performed at an early age.
Conduction disturbances can occur after surgery. The atrioventricular node and the
bundle of His and its divisions are in close proximity to the VSD and may be injured
during surgery. A permanent complete heart block after surgery is rare. When present, it
should be treated by placement of a permanently implanted pacemaker. Even a transient
complete heart block in the immediate postoperative period is rare in tetralogy patients; it
may be associated with an increased incidence of late-onset complete heart block and
sudden death. Right bundle branch block is quite common on the postoperative
electrocardiogram. The duration of the QRS interval has been shown to predict both the
presence of residual hemodynamic derangement and the long-term risk of sudden death.
A number of children have premature ventricular beats after repair of the tetralogy
of Fallot. These beats are of concern in patients with residual hemodynamic abnormalities;
24-hr electrocardiographic (Holter) monitoring studies should be performed to be certain
that occult short episodes of ventricular tachycardia are not occurring. Exercise studies
may be useful in provoking cardiac arrhythmias that are not apparent at rest. In the
presence of complex ventricular arrhythmias or severe residual hemodynamic
abnormalities, prophylactic antiarrhythmic therapy is warranted. Re-repair is indicated if
significant residual right ventricular outflow obstruction or severe pulmonary insufficiency
is present 3,7
2.11 Prognosis
Early surgery is not indicated for all infants with tetralogy of Fallot (TOF), although,
without surgery, the natural progression of the disorder indicates a poor prognosis. The
28

progression of the disorder depends on the severity of right ventricular (RV) outflow tract
obstruction (RVOTO).In the present era of cardiac surgery, children with simple forms of
tetralogy of Fallot enjoy good long-term survival with an excellent quality of life. Late
outcome data suggest that most survivors are in New York Heart Association (NYHA)
classification I, although maximal exercise capability is reduced in some. Sudden

death

from ventricular arrhythmias has been reported in 1-5% of patients at a later stage in life,
and the cause remains unknown. It has been suspected that ventricular dysfunction may be
the cause. One study found left ventricular longitudinal dysfunction to be associated with a
greater risk of developing life-threatening arrhythmias. Continued cardiac monitoring into
adult life is necessary. For some time, it has been suspected that certain children may have
inherited a predispostion to developing long QT syndrome. A 2012 study by Chiu
confirmed this suspicion 4
If left untreated, patients with tetralogy of Fallot face additional
risks that include paradoxical emboli leading to stroke, pulmonary embolus, and subacute
bacterial endocarditis. It is well known that children with congenital heart disease are
prone to stroke. In most of these children the causes of stroke have been related to
thromboemboli, prolonged hypotension/anoxix and polycythemia. What is often forgotten
is that residual shunts or a patent foramen ovale are also known causes of strokes. The
investigation of strokes in these children usually begins with a CT scan of the brain
followed by an ECHO

Without surgery, mortality rates gradually increase,

ranging from 30% at age 2 years to 50% by age 6 years. The mortality rate is highest in the
first year and then remains constant until the second decade. No more than 20% of patients
can be expected to reach the age of 10 years, and fewer than 5-10% of patients are alive by
the end of their second decade.

Most individuals who survive to age 30 years

develop congestive heart failure (CHF), although individuals whose shunts produce
minimal hemodynamic compromise have been noted, albeit rarely, and these individuals
achieve a normal life span. However, cases of survival of patients into their 80s have been
reported. Due to advanced surgical techniques, a 40% reduction in deaths associated with
tetralogy of Fallot was noted from 1979 to 2005.

As might be expected, individuals

with tetralogy of Fallot and pulmonary atresia have the worst prognoses, and only 50%
survive to age 1 year and 8% to age 10 years.4
2.12 Complication

29

Before correction, patients with the tetralogy of Fallot are susceptible to several
serious complications. Fortunately, most children undergo palliation or repair in infancy,
and these complications are rare. Cerebral thromboses, usually occurring in the cerebral
veins or dural sinuses and occasionally in the cerebral arteries, are common in the
presence of extreme polycythemia and dehydration. Thromboses occur most often in
patients younger than 2 yr. These patients may have iron deficiency anemia, frequently
with hemoglobin and hematocrit levels in the normal range. Therapy consists of adequate
hydration and supportive measures. Phlebotomy and volume replacement with fresh
frozen plasma are indicated in extremely polycythemic patients. Heparin is of little value
and is contraindicated in patients with hemorrhagic cerebral infarction. Physical therapy
should be instituted as early as possible.

Brain abscess is less common than cerebral

vascular events and extremely rare when most patients are repaired at much younger ages.
Patients with a brain abscess are usually older than 2 yr. The onset of the illness is often
insidious and consists of low-grade fever or a gradual change in behavior, or both. Some
patients have an acute onset of symptoms that may develop after a recent history of
headache, nausea, and vomiting. Seizures may occur; localized neurologic signs depend
on the site and size of the abscess and the presence of increased intracranial pressure. CT
or MRI confirms the diagnosis. Antibiotic therapy may help keep the infection localized,
but surgical drainage of the abscess is usually necessary. 7 Bacterial

endocarditis

may

occur in the right ventricular infundibulum or on the pulmonic, aortic, or rarely, the
tricuspid valves. Endocarditis may complicate palliative shunts or, in patients with
corrective surgery, any residual pulmonic stenosis or VSD. Antibiotic prophylaxis is
essential before and after dental and certain surgical procedures associated with a high
incidence of bacteremia. 7

Heart failure is

not a usual feature in patients with the tetralogy of Fallot. It may occur in a young infant
with pink or acyanotic tetralogy of Fallot. As the degree of pulmonary obstruction
worsens with age, the symptoms of heart failure resolve and eventually the patient
experiences cyanosis, often by 612 mo of age. These patients are at increased risk for
hypercyanotic spells at this time. 6,7

CHAPTER III
CASE REPORT

30

3.1 Objective
The objective of this paper is to report a case of 16 years 3 months old boy with a
diagnosis of Tetralogy of Fallot.
3.2 Case Report
Name

: SNK

Age

: 16 years 3 month

Sex

: Male

Date of Admission

: 29 September 2015

Chief Complaint

: Cyanosis

History of disease

This occurs since children aged 4 months and increasingly become heavy in 1 day,
cyanosis encountered in the area of the tongue, lips, extremities, does not disappear with
the administration of oxygen. Shortness of breath (+) experienced within 1 day, shortness
of breath associated with activities such as walking a distance of 5 meters. Fever (+)
experienced SN since two days ago, the fever is not very high, down with fever-lowering
drugs. Vomiting encountered since 1 day ago, a frequency over 5 times a day, the volume
of cup, the contents of what is in the eating and drinking. SN is a division of
cardiology old patient with a diagnosis of TOF and has performed catheterization.
History of medication

: unclear

History of family

: unclear

History of parents medication : unclear

History of pregnancy

: The age of the mom was 24 years old during

pregnancy with G3P3A0. The gestation age was 38 weeks. Her mom regularly control
pregnancy. History of Diabetes Melitus was not found. Usage of drugs (-), Usage of herbs
(-).
History of birth

: Birth assisted by midwives, baby was born by normal.

The baby immediately cry. Blue or cyanosis was not found. Birth body weight : 3200 gr,
birth body length : was unclear, and head circumference was unclear.

31

History of feeding

: Exclusive breastfeeding until 4 months. Formula milk

begined she was 4 month. MP-ASI begined she was 4 month.

History of immunization

: Complete immunization

History of growth and development: unclear

Physical Examination:
Present status
:
Level of consciousness: compos mentis, body temperature: 37C, BW: 34 kg, BH: 157 cm,
BW/A: Zscore=0 , BL/A: Z-score =0, BW/BL: Z-score =0, anemic (-), cyanosis (+),
dypnea (+).
Localized status:
Head

: Hair was black, har fall easily was nod found. Eyes: Light reflex
+/+, isochoric pupil, conjunctiva palpebra inferior pale (-/-)
Icteric sclera (-/-), inferior and superior palpebra edema (-/-)
Ears: within normal range
Nose : within normal range
Mouth : cyanosis (+)

Neck

: Lymph node enlargement (-), TVJ =+2cm H2O

Thorax

: symmetrical fusiform, chest retraction (-), thrill (-)

HR: 74 bpm, regular, ejection sistolik murmur gr IV/6 (+) in ICS III-IV in
left midclavicularis line.
RR: 30 bpm regular, rales (-/-), breath sound : vesicular.
Additional sound (-).

Abdomen

: Soft, non tender, normal peristaltic, liver and spleen was not
Palpable. Ascites (-) Tumor (-)

Extremities : pulse 74 bpm regular, p/v adequate, warm acral, CRT < 3,
clubbing finger(+) cyanosis in fingers (+)
Anogenitalia : male, within normal limit, anus (+)
Working diagnosis

: Tetralogy of Fallot

Futher Plan

1. Cardiac Catheter
2. Check complete bloud count, serum elektrolit, Blood glucose random
3. Elektrocardiography
32

4. Chest X-ray
5. Echocardiography
Laboratory Finding:
Hematology
Test

Result

Unit

Refference

Hemoglobin

23,20

g%

11.3-14.1

RBC

7,94

106/mm3

4.40-4.48

Leucocyte

4,40

103/mm3

6.0-17.5

Thrombocyte

47

103/mm3

217-497

Hematokrit

69.10%

37-41)

MCV

87,00

fl

(81-95)

MCH

29,20

Pg

25-29

MCHC

33,60

g%

29-31

RDW

19,10

11.6-14.8

Eosinophil

1.10

1-6

Basophil

5.700

0-1

Neutrophil

27,80

37-80

Lymphocyte

56,80

68.30

Monocyte

8,60

11.50

Neutrophil absolute

1,22

103 /L

2.4-7.3

Lymphosite absolute

2,50

103 /L

1.75-5.1

Monocyte absolute

0,38

103 /L

0.2-0.6

Eosinophyl absolute

0,05

103 /L

0.1-0.3

Basophyl absolute

0,25

103 /L

0-0.1

Chemical Test
Result

Unit

Refference

Blood Gas Analysis

pH
pCO2

:
:

7,320
26,0

mmHg

(7,35-7,45)
(38-42)
33

pO2
:
Bikarbonat(HCO3) :
Total CO2 :
BE
:
O2 saturation
:

Blood glucose :

105,0
13,4
14,2
-11,1
98,6

mmHg
mmol/L
mmol/L
mmol/L
%

(85-100)
(22-26)
(19-25)
(-2) (+2)
(95-100)

80,00

mg/dL

(<200)

7,8
138
5,0
110

mg/dL
mEq/dL
mEq/d L
mg/dL

(8.4-10.4)
(135-155)
(3.6-5.5)
(96-106)

Electrolyte:

Calcium :
Natrium :
Kalium :
Clorida :

Chest X-ray

- Costophrenicus angle is taper.

- Diafragm is smooth contour.
- The heart is Cardiomegali ( CTR >50%).
- The trachea is in the middle.
- Bone structure and soft tissue appear normal ..
Conclusion: Cardiomegali

34

3.2.1

Follow Up

FOLLOW UP
September 29th 2015
S:
O : Sensorium: CM; T: 37oC; BW: 34 kg, BH: 157 cm
Cyanosis (+),
Dyspnea (+),

P:

Head :

Eye: light reflex (+/+), isochoric pupil, pale inferior

conjunctiva palpebra (-/-)

Ear: within normal range
Nose: within normal range
Mouth: cyanosis

Fever (+),
Puke (+)

A: Tetralogy of Fallot

O2 - 1 L/i nasal kanul

IVFD 05 % NaCl 0,45% 30 gtt/i mikro

Neck: lymph nodes enlargement (-)

Thorax: symmetrical fusiform, retraction (-)

HR: 74 bpm, reg, ejection sistolik murmur (+) grade

IV/6 left linea midclavicularis ICR III/IV

RR: 30 bpm, reg, rales (-/-)

Abdominal: soft, non tender, peristaltic (+) N, Liver and

Spleen not palpable
Extremities: pulse 74 bpm, reg, p/v adequate, warm acral,
CRT < 3, cyanosis (+), clubbing Finger
September 30th 2015
S:
O : Sensorium: CM; T: 36. 9oC; BW: 34 kg, BH:
Cyanosis (+)

157 cm

A :Tetralogy of Fallot

P:

O2 - 1 L/i nasal kanul

35

Dyspnea (+)

Head :

Fever
Puke (-)

Eye: light reflex (+/+), isochoric pupil, pale

inferior conjunctiva palpebra (-/-)

Ear: within normal range
Nose: within normal range
Mouth: cyanosis

IVFD 05 % NaCl 0,45% 30 gtt/i micro.

Neck: lymph nodes enlargement (-)

Thorax: symmetrical fusiform, retraction (-)

HR: 78 bpm, reg, ejection sistolic murmur

grade IV/6 mid clavicularis line ICR III/IV

RR: 30 bpm, reg, rales (-/-)

Abdominal: soft, non tender, peristaltic (+) N,

Liver and Spleen not palpable
Extremities: pulse 78 bpm, reg, p/v adequate, warm
acral, CRT < 3
Cyanosis (+), Clubbing Finger

1 Oktoberth 2015
S:
O : Sensorium: CM; T: 36,3oC; BW: 34 kg, BH: 157
Cyanosis (+)

cm

Dyspnea (+)

Head :

Fever (-)

A : Tetralogy of Fallot

P:

O2 - 1 L/i nasal kanul

IVFD 05 % NaCl 0,45% 30 gtt/i mikro

Eye: light reflex (+/+), isochoric pupil, pale

36

Puke (-)

inferior conjunctiva palpebra (-/-)

Ear: within normal range
Nose: within normal range
Mouth: cyanosis

Neck: lymph nodes enlargement (-)

Thorax: symmetrical fusiform, retraction (-)

HR: 80 bpm, reg, ejection sistolik murmur (+)

grade IV/6 left linea midclavicularis ICR III/IV

RR: 30 bpm, reg, rales (-/-)

Abdominal: soft, non tender, peristaltic (+) N, Liver

and Spleen not palpable
Extremities: pulse 78 bpm, reg, p/v adequate, warm
acral, CRT < 3, cyanosis (+), clubbing Finger
2 Oktoberth 2015
S:
O : Sensorium: CM; T: 37,1oC; BW: 34 kg, BH: 157
Dyspnea (+)

cm
Head :

Eye: light reflex (+/+), isochoric pupil, pale

inferior conjunctiva palpebra (-/-)

Ear: within normal range
Nose: within normal range
Mouth: within normal range

A : Tetralogy of Fallot

P: O2 - 1 L/i nasal kanul

IVFD D5 % NaCl 0,45% 30 gtt/i mikro
IVFD Nacl 3% 170cc/12 jam

Neck: lymph nodes enlargement (-)

37

Thorax: symmetrical fusiform, retraction (-)

HR: 82 bpm, reg, ejection sistolic murmur grade

IV/6 mid clavicularis line ICR III/IV

RR: 30 bpm, reg, rales (-/-)

Abdominal: soft, non tender, peristaltic (+) N, Liver

and Spleen not palpable
Extremities: pulse 78 bpm, reg, p/v adequate, warm
acral, CRT < 3
Cyanosis (+), Clubbing Finger

Oktober 3 th 2015
S:
O : Sensorium: CM; T: 37oC; BW: 34 kg, BH: 157 cm
Dyspnea (+)

Head :

Eye: light reflex (+/+), isochoric pupil, pale inferior

conjunctiva palpebra (-/-)

Ear: within normal range
Nose: within normal range
Mouth: within normal range

A: Tetralogy of Fallot

P: O2 - 1 L/i nasal kanul

IVFD D5 % NaCl 0,45% 30 gtt/i mikro
IVFD Nacl 3% 170cc/12 jam
Plebotomi plan

Neck: lymph nodes enlargement (-)

38

Thorax: symmetrical fusiform, retraction (-)

HR: 80 bpm, reg, ejection sistolic murmur grade IV/6 mid

clavicularis line ICR III/IV

RR: 30 bpm, reg, rales (-/-)

Abdominal: soft, non tender, peristaltic (+) N, Liver and Spleen

not palpable
Extremities: pulse 80 bpm, reg, p/v adequate, warm acral, CRT
< 3
Cyanosis (+), Clubbing Finger
Hematology

Diftel:

Clinic chemist:

HGB 22,70g% (11.3-14.1)

Neutrophil 43,70% (37-80)

Albumin 4,5g/dL (3,2-4,5)

RBC 7,67106/mm3 (4.40-4.48)

Lymphocyte 39,10% (20-40)

Ureum 23,70mg/dL (<50)

WBC 5,96103/mm3 (4.5-13.5)

Monocyte 13,40% (2-8)

Creatinin 0,63mg/dL (0,70-1,20)

Ht 66,90% (37-41)

Eosinophil 2,00% (1-6)

PLT 103 103/mm3 (150-450)

Basophil 1,800% (0-1)

MCV 87,20 fl (81-95)

Absolute neutrophil 2.60 103 /L (2.4-

MCH 29,60 pg (25-29)

7.3)

MCHC 33,90 g% (29-31)

Absolute lymphocyte 2,33 103/ L (1.7-

RDW 20,30% (11.6-14.8)

5.1)
Absolute monocyte 0,80 103/ L (0.2-0.6)
Absolute eosinophil 0.12 103/ L (0.139

0,3)
Absolute basophil 0.11 103/ L (0-0.1)

S:

Oktober 4Th 2015

O : Sensorium: CM; T: 37oC; BW: 34 kg, BH: 157

Post plebotomi

cm

Dyspnea (+)

Head :

Eye: light reflex (+/+), isochoric pupil, pale

inferior conjunctiva palpebra (-/-)

Ear: within normal range
Nose: within normal range
Mouth: within normal range

A: Tetralogy of Fallot

P: O2 - 1 L/i nasal kanul

IVFD D5 % NaCl 0,45% 30 gtt/i mikro
IVFD Nacl 3% 170cc/12 hour
Monitor post plebotomi (vital signs, the patient's

Neck: lymph nodes enlargement (-)

Thorax: symmetrical fusiform, retraction (-)

HR: 88 bpm, reg, ejection sistolic murmur grade

IV/6 mid clavicularis line ICR III/IV

RR: 24 bpm, reg, rales (-/-)

Abdominal: soft, non tender, peristaltic (+) N, Liver

and Spleen not palpable
Extremities: pulse 80 bpm, reg, p/v adequate, warm
acral, CRT < 3
Hematology

Diftel:

HGB 20,80g% (11.3-14.1)

Neutrophil 40,80% (37-80)

40

RBC 7,06106/mm3 (4.40-4.48)

Lymphocyte 41,40% (20-40)

WBC 6,38103/mm3 (4.5-13.5)

Monocyte 14,10% (2-8)

Ht 61,90% (37-41)

Eosinophil 2,80% (1-6)

PLT 128 103/mm3 (150-450)

Basophil 0,900% (0-1)

MCV 87,70fl (81-95)

Absolute neutrophil 2.60 103 /L (2.4-7.3)

MCH 29,500 pg (25-29)

Absolute lymphocyte 2,64 103/ L (1.7-

MCHC 33,60 g% (29-31)

5.1)

RDW 19,80% (11.6-14.8)

Absolute monocyte 0,90 103/ L (0.2-0.6)

MPV 13,30fL (7,0-10,2)

Absolute eosinophil 0.18 103/ L (0.1-0,3)

PCT 0,17%

Absolute basophil 0.06 103/ L (0-0.1)

PDW 22,6fL
S:

Oktober Th 5 2015
O : Sensorium: CM; T: 37,2oC; BW: 34 kg, BH: 157
A: Tetralogy of Fallot

Dyspnea (+)

cm
Head :

Eye: light reflex (+/+), isochoric pupil, pale

inferior conjunctiva palpebra (-/-)

Ear: within normal range
Nose: within normal range
Mouth: within normal range

P: O2 - 1 L/i nasal kanul

IVFD D5 % NaCl 0,45% 30

gtt/i mikro
IVFD Nacl 3% 170cc/12 hour

Neck: lymph nodes enlargement (-)

Thorax: symmetrical fusiform, retraction (-)

HR: 92 bpm, reg, ejection sistolic murmur grade

41

IV/6 mid clavicularis line ICR III/IV

RR: 26 bpm, reg, rales (-/-)

Abdominal: soft, non tender, peristaltic (+) N, Liver

and Spleen not palpable
Extremities: pulse 92 bpm, reg, p/v adequate, warm
acral, CRT < 3
Hematology

Diftel:

HGB 20,50g% (11.3-14.1)

Neutrophil 46,10% (37-80)

RBC 6,70 106/mm3 (4.40-4.48)

Lymphocyte 37,40% (20-40)

WBC 5,89 103/mm3 (4.5-13.5)

Monocyte 12,90% (2-8)

Ht 61,80% (37-41)

Eosinophil 2,90% (1-6)

PLT 148 103/mm3 (150-450)

Basophil 0,700% (0-1)

MCV 88,70fl (81-95)

Absolute neutrophil 2.72 103 /L (2.4-7.3)

MCH 29,40 pg (25-29)

Absolute lymphocyte 2,2,20 103/ L (1.7-5.1)

MCHC 33,20 g% (29-31)

Absolute monocyte 0,76 103/ L (0.2-0.6)

RDW 19,50% (11.6-14.8)

Absolute eosinophil 0,17 103/ L (0.1-0,3)

MPV 12,50fL (7,0-10,2)

Absolute basophil 0.04 103/ L (0-0.1)

PCT 0,18%
PDW 18,8fL

42

S:

Oktober Th 6 2015
O : Sensorium: CM; T: 37,2 C; BW: 34 kg, BH: 157 cm

A: Tetralogy of

Dyspnea ()

Head :

Fallot

Eye: light reflex (+/+), isochoric pupil, pale inferior

conjunctiva palpebra (-/-)

Ear: within normal range
Nose: within normal range
Mouth: within normal range

P: O2 - 1 L/i nasal

kanul
IVFD D5 % NaCl

0,45% 30 gtt/i mikro

IVFD Nacl 3%
170cc/12 hour

Neck: lymph nodes enlargement (-)

Thorax: symmetrical fusiform, retraction (-)

HR: 92 bpm, reg, ejection sistolic murmur grade IV/6 mid

clavicularis line ICR III/IV

RR: 24 bpm, reg, rales (-/-)

Abdominal: soft, non tender, peristaltic (+) N, Liver and Spleen

not palpable
Extremities: pulse 98 bpm, reg, p/v adequate, warm acral, CRT <
3

43

CHAPTER IV
DISCUSSION
Tetralogy of Fallot is the most common form of cyanotic congenital heart disease after
infancy, occurring in 5 of 10,000 live births. The etiology is multifactorial, but reported
associations include untreated maternal diabetes, phenylketonuria, and intake of retinoic acid.
Associated chromosomal anomalies can include trisomies 21, 18, and 13, but resence
experience points to much frequent association of microdeletions of chromosome 22. The risk
of reccurence in families is 3%. 4 In this case, the patient has a genetic risk that is where both
families have a history of similar disease.
The severity of right ventricular outflow tract obstruction determines the clinical
symptoms that can occur in TOF . In patients with degrees obstruksiksi exit right ventricle
weight, cyanosis can appear faster .6 Dyspnea , fatigue, taking a squatting position while
tired is a clinical symptoms of tetralogy of Fallot . In this case , the patient easily tired and
likes to take a squatting position while walking .
On physical examination will be found systolic ejection murmur in the upper or
middle third of the left sternal linia . Noise is associated with the degree of systolic right
ventricular outflow obstruction .6 On the degree of obstruction is more severe , the systolic
murmur is heard short and weak . 7 In the case , the patient was a girl aged 1 year 5 months
present with blue on the lips and fingertips and toes since patients aged 1 year . Blue in the
mouth , fingertips and toes unconscious patient 's parents since patients aged 1 year , and on
physical examination found systolic murmur grade III / 6 LMCS ICR II / III
Chest X-rays showed generally the size of the heart is not enlarged or normal .
Heart shape generally will show a picture like boot shaped and decreased pulmonary
vascularity .7 In this case , the results of chest X-ray shows the size of the heart is not
enlarged by the CTR of 50% and found a picture like boot shaped.
On the ECG examination , the child was found positive T wave in V1 ,
accompanied axis deviation to the right and right ventricular hypertrophy . In this case , the
results of electrocardiographic examination is right ventricular hypertrophy.
Catheterization can be used to confirm the diagnosis , especially disorders of
complex congenital heart disease , cardiac hemodynamics evaluate , assess the effects of
anomalies or lesions of the cardiovascular system , heart anatomy mapping in detail so as to
help determine the operating actions that will be taken from the results of catheterization
44

were performed to plan surgery patients . In this case , the patient had catheterization with
results ( 1 ) Left Ventricular graph : gross malaligmant VSD , overiding aorta < 50 % , 2
coronary artery ostium , good contaractility LV. ( 2 ) Right Ventricular graph : infindubular
severe pulmonary stenosis , confluent PA with adequat PA size , RPA diameter : 9.1 mm , 9.0
mm diameter LPA3 . From these results it is recommended that the patient for total correction
surgery .
Cyanotic congenital heart disease patients who did not corrective surgery will
experience a state of polycythemia and clubbing as well as share other complications . TOF
patients with adequate systemic oxygen saturation will maintain Hb 15 g / dl to 17 g / dL with
a hematocrit of 45 % to 50 %.7 However, if the hematocrit increases above 65 % , there will
be hyperviscosity with various consequences. Complications of the central nervous system
can be a headache thrombosis or stroke and cerebral abscess . In the case of the blood test
showed Hb : 17gr / dl and a hematocrit of 50 %.
Medical treatment of patient TOF is in the form of cyanotic attacks in the event
handler , avoid or quickly treat dehydration , keeping dental hygiene , prophylactic antibiotics
to prevent endocarditis . Patients at risk of developing bacterial endocarditis so it needs to be
given prophylactic antibiotics prior to dental extractions and surgical procedures specific to
the high incidence of bacteremia . Prophylactic antibiotics should be administered in a single
dose before the procedure

9.

If the dose was not inadvertently given antibiotics before the

procedure . The dose can be administered up to 2 hours after the procedure . However ,
administration of the dose after the procedure should be considered only if the patient did not
receive pre procedure.
In this case , patients received 3x3 mg oral propranolol therapy to reduce the
frequency and duration of hipersianotic spell . Patients have also been counseled to dentists to
perform dental examinations . Dental examination results not found focal inflammation and
infection of the teeth and mouth . Parents are encouraged to maintain dental and oral hygiene
dental patient because the patient is still in the growth stage 9. In this case prior to the act of
catheterization , the patient was given antibiotics ceftriaxone 500 mg for prophylaxis to
prevent bacteremia and endocarditis .
Currently TOF correction surgery is recommended in the first year of life . Two
studies in Inggir who studied TOF corrective surgery on children younger than 1 year showed
good results and a low mortality rate and good output . 10 A study in Canada to get the
optimum age for surgery is between 3 to 11 months.

45

Not all patients can be diagnosed early and underwent surgery under the age of 1
year . A study in South Africa showed that patients who underwent surgery TOF slower on
the average age of 9 years , but the result is quite good with the death of only 9 % .

11

Similar

results were obtained by a study in Iran where the surgery mortality rate 6.9 % and life
expectancy of patients 91 % at 1.5 and 10 years of post- correction . There was no difference
between patients who underwent primary surgery or gradual correction . Only 2.1 % found
slow death . In this case, the patient will be referred for total correction surgery in RSCM
Jakarta .12
SUMMARY
It has been reported, a girl with the main complainof cyanosis and was diagonesed with
Tetralogy of Fallot. The diagnose was established based on history taking, clinical
manifestation, laboratory finding, elektrocardiograhphy, echocardiography, and cardiac
catheterization. The patient will be referred fo total correction surgery in RSCM Jakarta.

46

Refferences

1. Berg D, 2011. Tetralogy of Fallot. In : Lily Leonar, editor. Pathophysiology of Heart Disease.
Fifth edition. Philadelphia : Lippincot Williams and Wilkins: 2001 pg 380-382
2. Bhimji,
S.,
2011.
Tetralogy
of
Fallot.
Available

from:

http://emedicine.medscape.com/article/2035949-overview [24 April 2015]

3. Siwik ES, Patel CR, Zahka KG, Goldmuntz E. Tetralogy of Fallot. In : Allen HD, Clark EB, ,
Dadolesents. Edition sixth, volume second. Philadelphia : Lippincot Williams and Wilkins;
2001, h. 880-99
4. Bailliard, F. and Anderson, R.H., 2009. Tetralogy of Fallot. Orphanet Journal of Rare
Diseases volume 4; 2-8
5. Ross, DN. The surgical management of Fallots Tetralogy. Postgrad. Med J. 1961. 37. 659.
6. Pradoso AM. Penyakit Jantung sianotik. In: Sastroasmoro S, Madiyono B, editor. Buku Ajar
Kardiologi anak. Edisi ke-1. Jakarta: Binarupa Aksara; 1994. Pg.237-78
7. Bernstein D. Cyanotic congenital heart lessions: lessions associated with decreased
pulmonary blood flow. In: Berhman RE, Kleigman RM, Jenson HB, editor. Nelson textbook
of pediatrics. Edition 18. Philadelphia : Saunders; 2007. P.1906-18.
8. Putra,S., Advani, N., et all. Tetralogy of Fallot. In : Pudjiadi, A. Hegar, Badriul. Pedoman
Pelayanan Medis Ikatan Dokter Anak Indonesia. 2009 pg 319-322
9. Wilson W, Taubert KA, Gewitz M, Lockhart PB, Baddour LM, Levision M, et all. Preventive
of infective endocarditis: Guidelines from the American Heart Association. Circulation.
2007;116:1736-54
10. Alexioy C, Mahmoud H, Al-Khaddour A, Gnananpragasam J, Salmon AP, Keeton BR, et all.
Outcome after repair of tetralogy of fallot in the first year of life. Ann Thorac Surg.
2001;71:494-500
11. Ooi A, Moorjani N, Baliulis G, Keeton BR, Salmon AP, Monro JL, et all. Medium term
outcome for infant repair in tetralogy of fallot: indicators for timing surgery. Eur J
Cardiothorac Surg. 2006;30:917-22
12. Van Arsdell GS, Maharaj GS, Tom J, Rao VK, Coles JG, Freedom RM, et all. What is the
optimal age for repair of tetralogy of fallot? Circulation. 2000; 102 Suppl III:123-9

47