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

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CONTENTS

CHAPTER I INTRODUCTION ................................................................ 1

1.1. Background ............................................................................ 3

1.2. Objective ........................................................................................ 3

CHAPTER II LITERATURE REVIEW .................................................... 4

2.1. Definition ........................................................................................ 4

2.2. Historical Information .................................................................... 4

2.3. Epidemiology ............................................................................ 4

2.4. Etiology ........................................................................................ 5

2.5.Embriology ...................................................................................... 6

2.6.Anatomy ....................................................................................... 7

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 ............................................................ 30

CHAPTER IV DISCUSSION & SUMMARY ................................... 45

4.1. Discussion ...................................................................... 45

4.2. Summary .................................................................................. 46

REFERENCES .................................................................................. 47

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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 malformation1.

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.

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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

follow-up, and morphologic classification of defects. For example, some of the investigations

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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

5

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

truncus arteriosus, respectively. The anatomic transition point, between the bulbus cordis and

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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

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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

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

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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

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

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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 double-

outlet 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.

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

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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).

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

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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

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

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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. 6 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.

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

13

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

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.

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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

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

15

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

elevated, giving the coeur en sabot (boot-shaped) contour. A very young infant may have

only diminished pulmonary flow. 3,6

16

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 5–10 mm 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 75–85%.

Selective right ventriculography best demonstrates the anatomy of the tetralogy of

Fallot. Contrast medium outlines the heavily trabeculated right ventricle. The infundibular

stenosis varies in length, width, contour, and distensibility. The pulmonary valve is usually

18

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

5–10% 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

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

19

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 0.2 mg/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 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. 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 β-Adrenergic blockade by the intravenous administration of propranolol

(0.01 mg/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

- 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

20

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 (0.5–1 mg/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.

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-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 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 (0.05–0.20 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. 6,7,8

21

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

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

22

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

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

23

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.

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 3–4 mm 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

24

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

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 1–2 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.

25

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

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.

26

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. 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 5–20 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

27

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 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

28

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

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 6–12 mo of age. These patients are at

increased risk for hypercyanotic spells at this time. 6,7

29

CHAPTER III

CASE REPORT

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 ± ¼ 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 parent’s 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

(-).

30

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.

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: 37°C, 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 (+)

31

Working diagnosis : Tetralogy of Fallot

Futher Plan :

1. Cardiac Catheter

2. Check complete bloud count, serum elektrolit, Blood glucose random

3. Elektrocardiography

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 /µL 2.4-7.3

Lymphosite absolute 2,50 103 /µL 1.75-5.1

Monocyte absolute 0,38 103 /µL 0.2-0.6

Eosinophyl absolute 0,05 103 /µL 0.1-0.3

Basophyl absolute 0,25 103 /µL 0-0.1

32

Chemical Test

Result Unit Refference

Blood Gas Analysis

pH : 7,320 (7,35-7,45)

pCO2 : 26,0 mmHg (38-42)

pO2 : 105,0 mmHg (85-100)

Bikarbonat(HCO3) : 13,4 mmol/L (22-26)

Total CO2 : 14,2 mmol/L (19-25)

BE : -11,1 mmol/L (-2) – (+2)

O2 saturation : 98,6 % (95-100)

Blood glucose : 80,00 mg/dL (<200)

Electrolyte:

Calcium : 7,8 mg/dL (8.4-10.4)

Natrium : 138 mEq/dL (135-155)

Kalium : 5,0 mEq/d L (3.6-5.5)

Clorida : 110 mg/dL (96-106)

Chest X-ray

33

- 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:

Cyanosis (+),

Dyspnea (+),

Fever (+),

Puke (+)

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

Head :

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

conjunctiva palpebra (-/-)

Ear: within normal range

Nose: within normal range

Mouth: cyanosis

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

A: Tetralogy of Fallot P:

O2 ½ - 1 L/i nasal kanul

IVFD 05 % NaCl 0,45% 30

gtt/i mikro

35

September 30th 2015

S :

Cyanosis (+)

Dyspnea (+)

Fever

Puke (-)

O : Sensorium: CM; T: 36. 9oC; BW: 34 kg, BH: 157

cm

Head :

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

inferior conjunctiva palpebra (-/-)

Ear: within normal range

Nose: within normal range

Mouth: cyanosis

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

A :Tetralogy of Fallot P :

O2 ½ - 1 L/i nasal kanul

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

micro.

36

1 Oktoberth 2015

S :

Cyanosis (+)

Dyspnea (+)

Fever (-)

Puke (-)

O : Sensorium: CM; T: 36,3oC; BW: 34 kg, BH: 157 cm

Head :

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

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

A : Tetralogy of Fallot P:

O2 ½ - 1 L/i nasal kanul

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

mikro

2 Oktoberth 2015

S :

Dyspnea (+)

O : Sensorium: CM; T: 37,1oC; BW: 34 kg, BH: 157

cm

A : Tetralogy of Fallot P: O2 ½ - 1 L/i nasal kanul

IVFD D5 % NaCl 0,45% 30

37

Head :

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

inferior conjunctiva palpebra (-/-)

Ear: within normal range

Nose: within normal range

Mouth: within normal range

Neck: lymph nodes enlargement (-)

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

gtt/i mikro

IVFD Nacl 3% 170cc/12 jam

38

Oktober 3 th 2015

S :

Dyspnea (+)

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

Head :

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

conjunctiva palpebra (-/-)

Ear: within normal range

Nose: within normal range

Mouth: within normal range

Neck: lymph nodes enlargement (-)

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

A: Tetralogy of Fallot P: O2 ½ - 1 L/i nasal

kanul

IVFD D5 % NaCl

0,45% 30 gtt/i mikro

IVFD Nacl 3%

170cc/12 jam

Plebotomi plan

Hematology

HGB 22,70g% (11.3-14.1)

Diftel:

Neutrophil 43,70% (37-80)

Clinic chemist:

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

39

RBC 7,67106/mm3 (4.40-4.48)

WBC 5,96103/mm3 (4.5-13.5)

Ht 66,90% (37-41)

PLT 103 103/mm3 (150-450)

MCV 87,20 fl (81-95)

MCH 29,60 pg (25-29)

MCHC 33,90 g% (29-31)

RDW 20,30% (11.6-14.8)

Lymphocyte 39,10% (20-40)

Monocyte 13,40% (2-8)

Eosinophil 2,00% (1-6)

Basophil 1,800% (0-1)

Absolute neutrophil 2.60 103 /µL (2.4-7.3)

Absolute lymphocyte 2,33 103/ µL (1.7-5.1)

Absolute monocyte 0,80 103/ µL (0.2-0.6)

Absolute eosinophil 0.12 103/ µL (0.1-0,3)

Absolute basophil 0.11 103/ µL (0-0.1)

Ureum 23,70mg/dL (<50)

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

Oktober 4Th 2015

S :

Post plebotomi

Dyspnea (+)

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

Head :

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

inferior conjunctiva palpebra (-/-)

Ear: within normal range

Nose: within normal range

Mouth: within normal range

Neck: lymph nodes enlargement (-)

Thorax: symmetrical fusiform, retraction (-)

HR: 88 bpm, reg, ejection sistolic murmur grade

A: Tetralogy of Fallot P: O2 ½ - 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

condition)

40

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

HGB 20,80g% (11.3-14.1)

RBC 7,06106/mm3 (4.40-4.48)

WBC 6,38103/mm3 (4.5-13.5)

Ht 61,90% (37-41)

PLT 128 103/mm3 (150-450)

MCV 87,70fl (81-95)

MCH 29,500 pg (25-29)

MCHC 33,60 g% (29-31)

RDW 19,80% (11.6-14.8)

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

PCT 0,17%

PDW 22,6fL

Diftel:

Neutrophil 40,80% (37-80)

Lymphocyte 41,40% (20-40)

Monocyte 14,10% (2-8)

Eosinophil 2,80% (1-6)

Basophil 0,900% (0-1)

Absolute neutrophil 2.60 103 /µL (2.4-7.3)

Absolute lymphocyte 2,64 103/ µL (1.7-

5.1)

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

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

Absolute basophil 0.06 103/ µL (0-0.1)

Oktober Th 5 2015

S : O : Sensorium: CM; T: 37,2oC; BW: 34 kg, BH: 157 cm A: Tetralogy of Fallot P: O2 ½ - 1 L/i nasal kanul

IVFD D5 % NaCl 0,45% 30

41

Dyspnea (+) Head :

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

inferior conjunctiva palpebra (-/-)

Ear: within normal range

Nose: within normal range

Mouth: within normal range

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: 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”

gtt/i mikro

IVFD Nacl 3% 170cc/12 hour

Hematology

HGB 20,50g% (11.3-14.1)

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

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

Ht 61,80% (37-41)

Diftel:

Neutrophil 46,10% (37-80)

Lymphocyte 37,40% (20-40)

Monocyte 12,90% (2-8)

Eosinophil 2,90% (1-6)

42

PLT 148 103/mm3 (150-450)

MCV 88,70fl (81-95)

MCH 29,40 pg (25-29)

MCHC 33,20 g% (29-31)

RDW 19,50% (11.6-14.8)

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

PCT 0,18%

PDW 18,8fL

Basophil 0,700% (0-1)

Absolute neutrophil 2.72 103 /µL (2.4-7.3)

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

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

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

Absolute basophil 0.04 103/ µL (0-0.1)

Oktober Th 6 2015

S :

Dyspnea ()

O : Sensorium: CM; T: 37,2oC; BW: 34 kg, BH: 157 cm

Head :

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

conjunctiva palpebra (-/-)

Ear: within normal range

Nose: within normal range

Mouth: within normal range

Neck: lymph nodes enlargement (-)

Thorax: symmetrical fusiform, retraction (-)

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

A: Tetralogy of

Fallot

P: O2 ½ - 1 L/i nasal

kanul

IVFD D5 % NaCl

0,45% 30 gtt/i mikro

IVFD Nacl 3%

170cc/12 hour

43

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”

44

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

45

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.

46

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.

47

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 Fallot’s 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

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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

48