TOF With Suspect DS

8/2/2019 TOF With Suspect DS

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CASE REPORT

TETRALOGY OF FALLOT

Presentator : Adeodata Lily Wibisono

Huriah Menggala Putra

Day/Date : Tuesday/ November 29th

2011

Supervisor : dr. Tina Christina L. Tobing, Sp.A(K)

CHAPTER I

INTRODUCTION

1.1 Background

Heart and vascular abnormalities make up the largest category of human birth

defects, accounting for 1% of malformations among live-born infants. The incidence among

stillborns is 10 times as high. It is estimated that 8% of cardiac malformations are due to

genetic factors, 2% are due to environmental agents, and most are due to a complex

interplay between genetic and environmental influences (multifactorial causes).1

Tetralogy of Fallot (TOF) is one of the most common congenital heart disorders

(CHDs). This condition is classified as a cyanotic heart disorder, because tetralogy of Fallot

results in an inadequate flow of blood to the lungs for oxygenation (right-to-left shunt).

Patients with tetralogy of Fallot initially present with cyanosis shortly after birth, thereby

attracting early medicalattention.2

Congenital cardiovascular disease is defined as an

abnormality in cardiocirculatory structure or function that is present at birth, even if it is


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discovered much later. Congenital cardiovascular malformations usually result from altered

embryonic development of a normal structure or failure of such a structure to progress

beyond an early stage of embryonic or fetal development. The aberrant patterns of flow

created by an anatomical defect may, in turn, significantly influence the structural and

functional development of the remainder of the circulation.

Down syndrome is set of mental and physical symptoms that result from having an

extra copy of Chromosome 21. Normally, a fertilized egg has 23 pairs of chromosomes. In

most people with Down syndrome, there is an extra copy of Chromosome 21 (also called

trisomy 21 because there are three copies of this chromosome instead of two), which

changes the bodys and brains normal development. The chance of having a baby with

Down syndrome increases as a woman gets olderfrom about 1 in 1,250 for a woman who

gets pregnant at age 25, to about 1 in 100 for a woman who gets pregnant at age 40. But,

most babies with Down syndrome are born to women under age 35 because more younger

women have babies.3

1.2 Objective

This paper is completed in order to fulfill one of the requirements in the Senior

Clinical Assistance program in Department of Pediatrics of Haji Adam Malik General

Hospital/University of North Sumatera. In addition, this paper passes the knowledge of

tetralogy of fallot with suspect Down syndrome and its management.


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CHAPTER II

LITERATURE REVIEW

2.1Tetralogy of Fallot2.1.1 Definition

Tetralogy of Fallot is a congenital cardiac malformation that consists of an

interventricular communication, also known as a ventricular septal defect (subaortic

perimembranous type), obstruction of the right ventricular outflow tract, override of the

ventricular septum by the aortic root, and right ventricular hypertrophy.4,5 Pulmonary atresia

with VSD is considered the extreme end of the anatomic spectrum of tetralogy of Fallot.6 If

ASD exists, it is called pentalogy of fallot. If the VSD is a subarterial doubly committed, it

is known as oriental or Mexican fallot.5 These defects, which affect the structure of the

heart, cause oxygen-poor blood to flow out of the heart and into the rest of the body. Infants

and children with tetralogy of Fallot usually have blue-tinged skin because their blood

doesn't carry enough oxygen.7

2.1.2EpidemiologyThe true incidence of congenital cardiovascular malformations is difficult to

determine accurately, partly because of the difficulties in definition discussed earlier. Precise

data concerning the frequency of individual congenital lesions also are lacking, and the

results of many analyses differ, depending on the source (living or dead) and the selection of

the study population. Table 2.1 is a compilation from both clinical and pathological studies

that approximates the frequency of occurrence of specific cardiovascular malformation.8


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Table 2.1 Relative frequency of occurrence of cardiac malformation at birth

Disease Percentage

Ventricular septal defect 30.5

Atrial septal defect 9.8

Patent ductus arteriosus 9.7

Pulmonary stenosis 6.9

Coarctation of aorta 6.8

Aortic stenosis 6.1

Tetralogy of Fallot 5.8

Complete transposition of great arteries 4.2

Persistent truncus arteriosus 2.2

Tricuspid atresia 1.3

All others 16.5

Data based on 2310 cases

Tetralogy of Fallot is the most common form of cyanotic congenital heart disease

after infancy, occurring in 5 of 10,000 live births.9

In most cases, tetralogy of Fallot is

sporadic and nonfamilial. The incidence in siblings of affected parents is 1-5%, and it occurs

more commonly in males than in females.2 According to existing statistics, the frequency

increases with age when compared with other forms of cyanotic congenital cardiac

malformations. This is largely because, in the past, infants with more lethal cardiac

anomalies tended to die, whereas many with tetralogy of Fallot survive beyond infancy even

without treatment. This could well change in the current era.10

This disease is often associated with other cardiac defects, including a right-sided

aortic arch (25% of patients), ASD (10% of patients), less often, anomalous origin of the left

coronary artery, and extracardiac anomalies such as cleft lip and palate, hypospadias, and

skeletal and craniofacial abnormalities.2,6

A microdeletion in chromosome 22 (22q11) has

been identified in patients with a syndrome that includes tetralogy of Fallot as one of the

cardiovascular manifestations.9

Patients with tetralogy of Fallot with pulmonary atresia have

a higher incidence of this syndrome than patients with classic tetralogy of Fallot. The


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prevalence of deletion 22q11 is 16% in tetralogy of Fallot with pulmonary atresia with

confluent pulmonary arteries and 41% in patients with tetralogy of Fallot with pulmonary

atresia and multiple aortopulmonary collateral arteries.6

2.1.3 EtiologyMalformations appear to result from an interaction between multifactorial genetic

and environmental systems too complex to allow a single specification of cause. In most

instances, a causal factor cannot be identified. However, the explosion of new genetic

research suggests that genetic causes are far more common than thought previously.8

Prenatal factors associated with a higher incidence of tetralogy of Fallot include

maternal rubella (or other viral illnesses) during pregnancy, poor prenatal nutrition, maternal

alcohol use, maternal age older than 40 years, ingestion of thalidomide and isotretinoin early

during gestation, maternal phenylketonuria birth defects, and diabetes.2,8

A study from

Portugal reported that methylene tetrahydrofolate reductase (MTHFR) gene polymorphism

can be considered a susceptibility gene for tetralogy of Fallot.

Rubella syndrome consists of cataracts, deafness, microcephaly, and, either singly or

in combination, patent ductus arteriosus, pulmonic valvular and/or arterial stenosis, and

atrial septal defect. Thalidomide exposure is associated with major limb deformities and,

occasionally, with cardiac malformations without predilection for a specific lesion.8

Associated chromosomal anomalies can include trisomies 21, 18, and 13, but recent

experience points to the much more frequent association of microdeletions of chromosome

22.4 As one of the conotruncal malformations, tetralogy of Fallot can be associated with a

spectrum of lesions known as CATCH22 syndrome (cardiac defects, abnormal facies,

thymic hypoplasia, cleft palate, hypocalcemia). Cytogenetic analysis may demonstrate

deletions of a segment of chromosome band 22q11 (DiGeorge critical region). Ablation of

cells of the neural crest has been shown to reproduce conotruncal malformations.2

Other syndromic associations include VATER syndrome (vertebral defects, anal

atresia, tracheoesophageal fistula with esophageal atresia, and renal and radial anomalies),


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CHARGE syndrome (coloboma, heart disease, atresia choanae, retarded growth and retarded

development and/or central nervous system anomalies, genital hypoplasia, and ear

anomalies and/or deafness), Alagille syndrome, cat's eye syndrome, Cornelia de Lange

syndrome, Klippel-Feil syndrome, and trisomy 21.6

2.1.4 AnatomyTetralogy of Fallot, the most frequently occurring abnormality of the conotruncal

region, is due to an unequal division of the conus resulting from anterior displacement of the

conotruncal septum.1 As a consequence, four anomalies arise that characterize this

condition, shown in figure 3.1: (a) ventricular septal defect caused by malalignment of the

interventricular septum; (b) subvalvular stenosis because of obstruction from the

infundibular septum; (c) an overriding aorta that arises directly above the septal defect and

receives blood from both ventricle; and (d) right ventricular hypertrophy owing to the high

pressure load placed on the right ventricle by the pulmonary stenosis.9


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Figure 2.1 Tetralogy of Fallot. A. Surface view B. The four components of the defect:

pulmonary stenosis, overriding aorta, interventricular septal defect, and hypertrophy

ofthe right ventricle.

Anatomical variants of tetralogy of Fallot, and associated anomalies

Tetralogy of Fallot with pulmonary atresia

This lesion is at the most severe end of the spectrum of antero-cephalad deviation of

the outlet septum. Occasionally, however, the pulmonary valve is affected in isolation, being

imperforate rather than stenotic. In approximately half of patients with pulmonary atresia,

the right and left pulmonary arteries are confluent, with blood to the pulmonary arteries

flowing through the persistently patent arterial duct. In the other half, the pulmonary arterial

supply is multifocal. In these patients, if the pulmonary arteries are confluent or continuous,

the blood supply will likely originate only from multiple aorto-pulmonary collateral arteries.

If the pulmonary arteries are discontinuous or absent, the blood supply to the lungs will

originate from multiple collateral arteries, or from a combination of collateral arteries and an

arterial duct. It is a general rule that a pulmonary segment will not be supplied by both an

arterial duct and a collateral artery. In cases of complex supply of blood to the lungs, it is

necessary to determine the proportion of pulmonary parenchyma supplied by the


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intrapericardial pulmonary arteries as opposed to those parts supplied exclusively by the

collateral arteries. Although the collateral arteries do not depend on prostaglandin for

patency, they have the potential to stenose over time. In other instances, large collateral

arteries can provide unrestricted flow to the lungs, thus producing hypertensive pulmonary

vasculature. The long-term management of the pulmonary supply in patients with tetralogy

of Fallot and pulmonary atresia, therefore, iscomplicated.4

Tetralogy of Fallot with absent pulmonary valve

Malalignment of the outlet septum with rudimentary formation of the leaflets of the

pulmonary valve, so-called absent pulmonary valve syndrome, is seen in around one-

twentieth of those alleged to have tetralogy of Fallot. The presence of rudimentary valvar

leaflets arrayed in circular fashion at the ventriculo-pulmonary junction results in free

pulmonary regurgitation throughout fetal life. The end result is that the chronic volume load

of the right ventricle is transmitted to the pulmonary arteries, with concomitant dilation of

these vessels. In severe cases, patients present with inspiratory and expiratory stridor due to

compression of the airways by the dilated pulmonary arteries. Although compression and

obstruction of the airways are partly responsible for cyanosis, there is also focal narrowing

at the ventriculo-pulmonary junction, contributing to the hypoxaemia in these patients. In

most instances, but certainly not all, the arterial duct is also absent.4

Tetralogy of Fallot with double outlet right ventricle

With pronounced aortic override, the aorta becomes more committed to the right

ventricle than to the left ventricle, resulting in many instances in the ventriculo-arterial

connection of double outlet right ventricle. Although the physiology on presentation may not

be altered, there are important implications for surgical repair. Patients with the aorta

originating predominantly from the right ventricle are at greater risk of developing

obstruction tothe newly created left ventricular outflow tract, the latter produced by the

patch which closes the ventricular septal defect while tunneling the left ventricle to the aorta.


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This patch, of necessity, is appreciably longer than when the aorta arises mostly from the left

ventricle.4

Tetralogy of Fallot with atrioventricular septal defect

An atrioventricular septal defect combined with a common atrioventricular junction

is found in 2% of patients with tetralogy of Fallot. The presentation and initial medical

management remain unchanged, but surgical repair and post-operative care are more

complex.4

Associated anomalies

Anomalous origins of the coronary arteries occur in up to one-sixth of patients, and

should be documented prior to surgical repair. The most common and relevant anomaly is

origin of the left anterior descending artery from the right coronary artery, with the

anomalous artery then coursing anterior to the subpulmonary outflow tract, a potential site

of surgical incision.

Other associated lesions include atrial septal defects, and additional ventricular septal

defects, the latter usually being muscular. Straddling and overriding of the tricuspid valve

may also occur, which will complicate the closure of the ventricular septal defect. An

important finding when there is overriding of the orifice of the tricuspid valve is the

anomalous location of the atrioventricular conduction tissues. A right aortic arch, which is of

no haemodynamic consequence, is present in one-quarter of patients with tetralogy of

Fallot.4

2.1.5 PathophysiologyIncreased resistance by the valvular pulmonic stenosis cause deoxygenated blood

returning from the systemic veins to be diverted from the right ventricle, through the


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ventricular septal defect, to the left ventricle, and into the systemic circulation, resulting in

systemic hypoxemia and cyanosis. The magnitude of shunt flow across the ventricular septal

defect is primarily a function of the severity of the pulmonary stenosis, but acute changes in

systemic and pulmonary resistances can affect it as well.9

The predominant shunt is from right to left with flow across the ventricular septal

defect into the left ventricle, which produces cyanosis and an elevated hematocrit value.

When the pulmonary stenosis is mild, bidirectional shunting may occur. In some patients,

the infundibular stenosis is minimal, and the predominant shunt is from left to right,

producing what is called a pink tetralogy. Although such patients may not appear cyanotic,

they often have oxygen desaturation in the systemic circulation.2

Symptoms generally progress secondary to hypertrophy of the infundibular septum.

Worsening of the right ventricular outflow track obstruction leads to right ventricle

hypertrophy, increased right-to-left shunting, and systemic hypoxemia.2

2.1.6 Clinical ManifestationsThe clinical manifestation is dominated by the degree of muscular obstruction of the

right ventricular outflow tract.10 The clinical features of tetralogy of Fallot 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.2

Children with

tetralogy of Fallot often experience dyspnea on exertion.9At 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, whichacutely worsens the right ventricular outflow tract obstruction. These spells can be aborted

with relatively simple procedures. Spells may occur following exertion, feeding, or crying

when systemic vasodilatation results in an increased right-to-left shunt. Manifestations of

such spells include irritability, cyanosis, hyperventilation, and occasionally syncope or

convulsions. Children learn to alleviate their symptoms by squatting down, which is thought


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to increase systemic vascular resistance by kinking the femoral arteries thereby decreasing

the right-to-left shunt and directing more blood from the right ventricle to the lungs.9

Exertional dyspnea usually worsens with age. Occasionally, hemoptysis due to rupture of

the bronchial collaterals may result in the older child.2

Hypercyanotic spells may be self-

limited; however, if sustained, they can result in brain ischemia or death.11

Cyanosis generally progresses with age and outgrowth of pulmonary vasculature and

demands surgical repair. The following factors can worsen cyanosis in infants with tetralogy

of Fallot: acidosis, stress, infection, posture, exercise, beta-adrenergic agonists, dehydration,

closure of the ductus arteriosus.2

Presentation when subpulmonary obstruction is severe from birth

When the obstruction of the right ventricular outflow tractis severe at birth,

presentation is in the neonatal period.Persistent cyanosis becomes apparent within the first

fewhours or days of life. With severe arterial desaturation, ametabolicacidosis develops that

is compensated by anincreased respiratory rate. The concomitant fall in arterialcontent of

carbondioxide gives rise to a compensatoryrespiratoryalkalosis. Intercostal or subcostal

recession, however,is unusual. Cyanosis, which dominates the clinicalpicture, increases with

crying, feeding, or other activities.Sometimes the pulmonary circulation is duct-dependent.

Inthis setting, the degree of subpulmonary obstruction is sogreat that there is inadequate

antegrade flow, and virtually allpulmonary blood flow is derived from a left-to-right

shuntvia the arterial duct. Under such circumstances, spontaneousclosure of the duct results

in death. Maintenance of ductalpatency, usually by infusion of prostaglandin E, is crucial.10

Presentation when subpulmonary obstruction is moderate at birth

The majority of children with tetralogy of Fallot are acyanotic at birth. The

developmentof cyanosis is dependent on increasing infundibularstenosis, and not on the

degree of aortic override.Thisis usually noted within the first few weeks of life, but

developmentof cyanosis may rarely be delayed to late childhood.At this stage, infants or


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children are usually asymptomatic. Later, hypercyanotic spells or squatting on exercise may

all occur. With improved medical surveillance, all of these symptoms are now less often

encountered than even a decade ago.10

Presentation when subpulmonary obstruction is minimal at birth

Some infants with tetralogy may uncommonly present at the age of 4 to 6 weeks with

features indistinguishable from those of a large ventricular septal defect. These babies are

breathless, feed poorly, gain weight poorly, and are not cyanosed. With increasing right

ventricular hypertrophy, the subpulmonary obstruction becomes more marked and, as the

shunt is reversed, the patients exhibit the signs and progression as described for the group

with moderate obstruction.10

Presentation with absent pulmonary valve

When tetralogy is complicated by so-called absence of the leaflets of the pulmonary

valve, which are usually present in rudimentary form, the presentation is characteristic yet

different from the previously described groups. The majority with this complication present

in infancy with respiratory symptoms of inspiratory and expiratory stridor, dyspnea caused

by lobar collapse or, at times, lobar emphysema. These features reflect compression of the

bronchial tree by the grossly dilated proximal pulmonary arteries. While bronchial

obstruction may lead to lobar collapse, and subsequent infection, partial obstruction may

produce a ball-valve effect, resulting in emphysema. Because there is stenosis at the site of

the rudimentary leaflets of the pulmonary valve, symptoms directly related to abnormal

haemodynamics are unusual.10

Squatting

Squatting, along with other postures, may alleviate the degree of cyanosis, dyspnea

or feeling of faintness induced by exercise. The means by which squatting alleviates the


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symptoms of cyanosis and dyspnoea have caused considerable debate. Irrespective of the

precise mechanisms, there is little doubt that squatting causes an abrupt increase in systemic

venous return and a rise in systemic vascular resistance. Right-to-left shunting is decreased

by an increase in systemic vascular resistance. This means that the volume of blood passing

through the right ventricle to the lungs is proportionally increased, with immediate

improvement in effective pulmonary flow, and hence arterial saturations of oxygen.10

Hypercyanotic attacks

An important, and often dramatic, feature of patients with tetralogy is the occurrence

of unprovoked severe cyanosis, which may lead to reduced cardiac output, and be

accompanied by transient loss of consciousness. These episodes, which are most common

between 6 months and 2 years of age, are potentially dangerous, as they may lead to cerebral

damage or even death. The majority last between 15 and 60 minutes, but an individual spell

may be of shorter duration, or can last for several hours. Initial presentation of infants or

children may be with a history of episodic loss of consciousness, or convulsions, episodes of

going floppy or pale, transient vacant episodes, or episodes of becoming deeply cyanosed

followed by loss of consciousness or sleep. Another striking feature of these spells may be

episodes of very rapid deep respiration or hyperpnoea, or a high-pitched abnormal cry. The

episodes are usually sufficiently dramatic or unusual for parents to volunteer information,

but specific questioning concerning their presence should be part of every outpatient

assessment. It was Wood (1958) who postulated that the spells resulted from infundibular

spasm or shutdown. Many now believe the concept of infundibular spasm, as a primary

phenomenon, to be unsupported by the anatomy or physiology of the subpulmonary

infundibulum, and suggest that the shutdown is secondary to other primary physiologic

influences, such as dehydration, or tachycardia-induced reductionin right ventricularpreload, systemic vasodilation in response to fever, or other sympathetic activity.

Irrespective of their aetiology, their occurrence should lead to prompt treatment with

continuous -blockade, and referral for surgery or interventional catheterisation as dictated

by the institutional protocols.10


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2.1.7 DiagnosisThe initial presentation of tetralogy of Fallot varies depending on the severity of the

obstruction of blood flow to the lungs. Most patients will present in the neonatal period with

mild-to-moderate cyanosis, but typically without respiratory distress. More uncommonly,

patients with very mild right ventricular outflow tract obstruction at birth may be diagnosed

at a couple months of age as the obstruction worsens resulting in newly noticed cyanosis and

a louder murmur. Because patients with tetralogy of Fallot have obstruction to pulmonary

blood flow, they will not present with signs of heart failure such as failure to thrive.

Irritability and lethargy are rarely seen in patients with tetralogy of Fallot except in the

setting of a hypercyanotic spell. Clubbing is also highly unusual in the modern era since

newly diagnosed patients undergo surgical repair before clubbing has time to develop.4

The second heart sound in patients with tetralogy of Fallot may be single and loud,

and a harsh systolic ejection murmur will be present, emanating from the obstructed

subpulmonary outflow tract. Flow across the interventricular communication in tetralogy of

Fallot is usually not turbulent, and therefore not audible. Patients with severe obstruction,

and very little antegrade flow across the subpulmonary outflow tract, will be more

significantly cyanotic and have a less prominent murmur.4

Once the lesion is suspected, an electrocardiogram and chest radiograph should be

performed. Roentgenographically, the typical configuration as seen in the anteroposterior

view consists of a narrow base, concavity of the left heart border in the area usually

occupied by the pulmonary artery, and normal heart size. The hypertrophied right ventricle

causes the rounded apical shadow to be up-tilted so that it is situated higher above the

diaphragm than normal. The cardiac silhouette has been likened to that of a boot or wooden

shoe (coeur en sabot). The hilar areas and lung fields are relatively clear because of

diminished pulmonary blood flow or the small size of the pulmonary arteries, or both. Theaorta is usually large, and in about 20% of instances it arches to the right, which results in an

indentation of the leftward-positioned air-filled tracheobronchial shadow in the

anteroposterior view.12


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The electrocardiogram demonstrates right axis deviation and evidence of right

ventricular hypertrophy. A dominant R wave appears in the right precordial chest leads (Rs,

R, qR, qRs) 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.12

Figure 2.2 Roentgenogram of an 8-years-old boy with the tetralogy of Fallot.

Note the normal heart size, some elevation of the cardiac apex, concavity in the region

of the main pulmonary artery, right-sided aortic arch, and diminished pulmonaryvascularity.

Diagnosis is confirmed with echocardiography. The severity of the subpulmonary

obstruction, its dynamic component, the size of the right and left pulmonary arteries, and

any additional sources of flow of blood to the lungs will all be delineated. The degree of

aortic override, the size of the interventricular communication, as well as the presence of

other associated lesions, will be identified.4

The echocardiogram is also useful indetermining whether a PDA is supplying a portion of the pulmonary blood flow. It may

obviate the need for catheterization.12

Similar to many congenital heart diseases, tetralogy of Fallot is frequently diagnosed

during fetal life using fetal echocardiography. It can be diagnosed as early as 12 weeks of


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gestation.4

For those with severely obstructed pulmonary blood flow, fetal diagnosis allows

better planning of perinatal management and facilitates early prostaglandin therapy to

maintain ductal patency, thus avoiding life-threatening cyanosis in the early newborn.13

Figure 2.3 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).12


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Figure 2.4 The long-axis view of the fetal echocardiogram (A) shows a large ventricularseptal defect with over-riding of the aorta. The typical anterocephalad deviation of the

outlet septum is seen (B), causing obstruction to the fl ow into the pulmonary trunk.13

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 510 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 7585%.12

2.1.8 Differential diagnosisThe differential diagnosis of any cyanotic patient with a murmur will include

persistent pulmonary hypertension of the newborn, as well as other cyanotic lesions such as

critical pulmonary stenosis, Ebstein's malformation, transposed arterial trunks, common

arterial trunk, totally anomalous pulmonary venous connection, and tricuspid atresia.4


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2.1.9 TreatmentTreatment 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.12

Infants with marked right ventricular outflow tract obstruction may deteriorate

rapidly because as the ductus arteriosus begins to close, pulmonary blood flow is further

compromised. The intravenous administration of prostaglandin E1 (0.050.20 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.12

Infants with less severe right ventricular outflow tract obstruction who are stable and

awaiting surgical intervention require careful observation. Prevention or prompt treatment ofdehydration 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 (0.51 mg/kg every 6 hr) may decrease the frequency


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and severity of hypercyanotic spells, but with the excellent surgery available, surgical

treatment is indicated as soon as spells begin.12

Infants with symptoms and severe cyanosis in the first month of life have marked

obstruction of the right ventricular outflow tract or pulmonary atresia. Two options are

available in these infants. The first is a palliative systemic-topulmonary artery shunt

performed to augment pulmonary artery blood flow. 12 Palliation, which frequently does not

require cardiopulmonary bypass, establishes a secure source of flow of blood to the lungs by

placing a prosthetic tube between a systemic and a pulmonary artery. The most common

type of aorto-pulmonary shunt is known as the modified Blalock-Taussig shunt. This

consists of a communication between a subclavian and pulmonary artery on the same side.4

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.12

Severe anoxemia is the main indication for operation in infancy.

Failure to gain weight or severe attacks of paroxysmal dyspnea are an indication of severe

anoxemia. A Potts anastomosis is the operation of choice in early-infancy. If the baby does

reasonably well, operation can be postponed until the subclavian artery is sufficiently large

for a Blalock-Taussig anastomosis.Extreme polycythemia is the main indication for

operation in late infancy and early childhood. Young children who are severely

incapacitated almost invariably have an extremely severe pulmonary stenosis and a very

small pulmonary artery; for such children a Blalock-Taussig operation, performed on the

opposite side to the aortic arch, is the operation of choice.14


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Figure 2.5 The modified Blalock-Taussig shunt

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.12

Elective repair in neonates with confluent central pulmonary arteries has excellent results in

the absence of associated non-cardiac conditions. While enhancing the development and

growth of the pulmonary arteries, neonatal repair affords a freedom from reintervention no

different from patients repaired during infancy.15 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 months of age.12

Due to chronic hypoxia in tetralogy of fallot, secondary polycythemia may happens.

When the hematocrit exceeds 6570% (hemoglobin > 23 g/dL), blood viscosity markedly

increases. Periodic phlebotomies may prevent or decrease symptoms. Apheresed blood

should be replaced with plasma or saline to prevent hypovolemia in patients accustomed to a

chronically elevated total blood volume.16


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If hypercyanotic spell happens to the patient, overcoming a hypercyanotic spell

requires maneuvers to re-establish adequate balance between the systemic and pulmonary

flows. Treatment must focus on decreasing pulmonary, and increasing systemic, vascular

resistance, hence promoting left to right flow across the ventricular septal defect and into the

subpulmonary outlet.4

Parents at home with a child suffering such spells are taught to place their child in

the knee-to-chest position in an effort to increase systemic vascular resistance and promote

systemic venous return to the right heart. This will theoretically increase intracardiac

shunting from left-to-right across the interventricular communication, as well as increase the

preload of the right ventricle. Emergency services should be contacted immediately.4

Medical management will consist of establishing immediate intravenous access to

allow prompt administration of fluids, which will improve right ventricular preload. Oxygen

should be initiated to decrease peripheral pulmonary vasoconstriction, and improve

oxygenation once flow of blood to the lungs is re-established. Subcutaneous morphine

should be administered to decrease the release of catecholamines. This will increase the

period of right ventricular filling by decreasing the heart rate, and promote relaxation of the

infundibular spasm. If the patient remains hypercyanotic after these measures, he or she

should be paralysed and intubated, with phenylephrine administered intravenously to

increase systemic vascular resistance.4

2.1.10 ComplicationBefore correction, patients with the tetralogy of Fallot are susceptible to several

serious complications. Cerebral thromboses, usually occurring in the cerebral veins or dural

sinuses and occasionally in the cerebral arteries, are common in the presence of extremepolycythemia and dehydration. Thromboses occur most often in patients younger than 2

years. 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


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indicated in extremely polycythemic patients. Heparin is of little value and is

contraindicated in patients with hemorrhagic cerebral infarction.12

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 years. 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.12

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. 12

Heart failure is not a usual feature in patients with the tetralogy of Fallot. It may

occur in a young infant with pink or acyanotic tetralogy of Fallot. As the degree of

pulmonary obstruction worsens with age, the symptoms of heart failure resolve and

eventually the patient experiences cyanosis, often by 612 months of age. These patients are

at increased risk for hypercyanotic spells at this time. 12

Pulmonary insufficiency is most common complication of post-correction patients.

Long term survival can be jeopardized by impairment of left-ventricular function. Possible

mechanisms include myocardial fibrosis following long-lasting cyanosis and altered

contraction of the interventricular septum due to the presence of a prosthetic patch. In

addition, the collateral circulation from the systemic to pulmonary arteries, particularly

present in the adult population, causes chronic ventricular overload. Atrial fibrillation and

flutter, as well as supraventricular tachycardia can be present especially in large right-atrium

chambers. 17


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Other postoperative complications may occur after a lateral thoracotomy and include

chylothorax, diaphragmatic paralysis, and Horner syndrome. Chylothorax may require

repeated thoracocentesis and, on occasion, reoperation to ligate the thoracic duct.

Diaphragmatic paralysis from injury to the phrenic nerve may result in a more difficult

postoperative course. Prolonged ventilator support and vigorous physical therapy may be

required, but diaphragmatic function usually returns in 12 months 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.12

2.1.11 Prognosis

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.2

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.2

Progressive

hypoxia, cyanotic spells, cerebral infarction or abscess and endocarditis are major causes of

morbidity and mortality and the risk is not entirely removed by palliation.18

Due to advanced

surgical techniques, a 40% reduction in deaths associated with tetralogy of Fallot was noted

from 1979 to 2005.2


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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.2

2.2 Down Syndrome

2.2.1 Definition

Down syndrome is set of mental and physical symptoms that result from having an

extra copy of Chromosome 21. Normally, a fertilized egg has 23 pairs of chromosomes. In

most people with Down syndrome, there is an extra copy of Chromosome 21 (also called

trisomy 21 because there are three copies of this chromosome instead of two), which

changes the bodys and brains normal development.3

2.2.2 Epidemiology

The most common trisomy in a newborn is trisomy 21 (three copies of chromosome

21). Trisomy 21 causes about 95% of the cases of Down syndrome. The extra chromosome

may come from the father; however, older mothers, especially those older than 35, more

commonly contribute the extra chromosome. Yet, because most births occur to younger

women, just 20% of infants with Down syndrome are born to mothers older than 35. Women

who have Down syndrome have a 50% chance of having a child with Down syndrome.

However, many affected fetuses abort spontaneously. Men with Down syndrome are usually

infertile.20

The male-to-female ratio is increased (approximately 1.15:1) in newborns with

Down syndrome. This effect is restricted to free trisomy 21.19

Approximately 75% of concepti with trisomy 21 die in embryonic or fetal life.

Approximately 85% of infants survive to age 1 year, and 50% can be expected to live longer

than age 50 years. Congenital heart disease is the most important factor that determines

survival. In addition, esophageal atresia with or without transesophageal (TE) fistula,

Hirschsprung disease, duodenal atresia, and leukemia contribute to mortality. The high

mortality rate later in life may be the result of premature aging.19
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Individuals with Down syndrome have a greatly increased morbidity rate, primarily

because of infections involving impaired immune response. Large tonsils and adenoids,

lingual tonsils, choanal stenosis, or glossoptosis can obstruct the upper airway. Airway

obstruction can cause serous otitis media, alveolar hypoventilation, arterial hypoxemia,

cerebral hypoxia, and pulmonary arterial hypertension with resulting cor pulmonale and

heart failure.19

A delay in recognizing atlantoaxial and atlanto-occipital instability may result in

irreversible spinal-cord damage. Visual and hearing impairments in addition to mental

retardation may further limit the child's overall function and may prevent him or her from

participating in important learning processes and developing appropriate language and

interpersonal skills. Unrecognized thyroid dysfunction may further compromise CNS

function.19

2.2.3 Etiology

The cause of Down syndrome is full trisomy 21 in 94% of patients. Mosaicism

(2.4%) and translocations (3.3%) account for the rest. Approximately 75% of the unbalanced

translocations are de novo, and approximately 25% result from familial translocation. The

most common error is maternal non disjunction in the first meiotic division, with meiosis I

errors occurring 3 times as frequently as meiosis II errors. The remaining cases are paternal

in origin, and meiosis II errors predominate.19

Most mosaic cases result from a trisomic zygote with mitotic loss of one

chromosome, resulting in 2 different cell lines, one with 3 copies of chromosome 21 and one

with 2 copies. Translocation cases occur when genetic material from chromosome 21

becomes attached to another chromosome, resulting in 46 chromosomes with onechromosome having extra material from chromosome 21 attached.19
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Advanced maternal age remains the only well-documented risk factor for maternal

meiotic non disjunction. However, understanding of the basic mechanism behind the

maternal age effect is lacking.19

With a maternal age of 35 years, the risk is 1 in 385.



2.2.4 Pathophysiology

In each human cell, except the egg and sperm cells, there are 46 chromosomes, made

up of 23 pairs. The chromosome pairs are numbered according to their size from 1-22 and

there are two sex chromosomes; two X chromosomes in females and an X and a Y in

males.21

When egg and sperm cells are formed, the chromosome pairs separate so that there is

only one of each pair in these cells ie. 23 chromosomes instead of 46. A baby is conceived

when the egg from the mother and the sperm from the father come together. The baby would

then have two copies of each chromosome (46 chromosomes in total) just like the parents.

One copy of each chromosome would have come from the mother and one copy from the

father.21

Sometimes, when the egg and sperm are forming, a mistake occurs so that the

chromosome pairs do not separate in an ordered fashion. The result is an egg or sperm cell

that has only 22 chromosomes while others have 24 chromosomes.21

If an egg or sperm carrying 24 chromosomes combines with an egg or sperm

carrying the usual 23 chromosomes, the result would be an individual with cells in which

there are 47 chromosomes instead of the usual 46. There would be three copies of a

particular chromosome in the cells rather than two. This is called trisomy.21


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The presence of the extra copy of chromosome 21 causes the intellectual and

physical characteristics of Down syndrome. In 95% of all cases of Down syndrome, the

extra copy of chromosome 21 is present in all the cells of the baby and in these cases the

condition is referred to as trisomy 21. The mistake in the distribution of the chromosomes

occurred at the time of the production of the egg or sperm or at fertilisation, so that the extra

chromosome 21 is in all the cells of the baby that arise from the fertilised egg.21

In about 1% of all cases of Down syndrome, the mistake in the distribution of

chromosomes in cell division occurs shortly after fertilisation of the egg by the sperm, so

that there is a mixture of cells with different chromosome patterns. This situation is called

Mosaicism. This means that some individuals who have Down syndromehave some of their

body cells containing 47 chromosomesbecause of an extra copy of chromosome 21, while

other cells in their body have the usual 46 chromosomes. These individualsare said to be

mosaic for trisomy 21. They have the mosaictype of Down syndrome. The number of cells

that contain the extra copy of chromosome21, and in which tissues or organs they occur,

would have aneffect on the severity and characteristics of the condition.In about 4% of all

cases of Down syndrome, the extra copy of chromosome 21 is attached (translocated) to

another chromosome. This is called the translocation type of Down syndrome and is an

inherited form of the condition.21

The extra chromosome 21 affects almost every organ system and results in a wide

spectrum of phenotypic consequences. These include life-threatening complications,

clinically significant alteration of life course (eg, mental retardation), and dysmorphic

physical features. Down syndrome decreases prenatal viability and increases prenatal and

postnatal morbidity. Affected children have delays in physical growth, maturation, bone

development, and dental eruption.19

The extra copy of the proximal part of 21q22.3 appears to result in the typicalphysical phenotype: mental retardation, characteristic facial features, hand anomalies, and

congenital heart defects. Molecular analysis reveals that the 21q22.1-q22.3 region, or Down

syndrome critical region (DSCR), appears to contain the gene or genes responsible for the

congenital heart disease observed in Down syndrome. A new gene, DSCR1, identified in

region 21q22.1-q22.2, is highly expressed in the brain and the heart and is a candidate for


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involvement in the pathogenesis of Down syndrome, particularly, in the mental retardation

and/or cardiac defects.19

Abnormal physiologic functioning affects thyroid metabolism and intestinal

malabsorption. Frequent infections are presumably due to impaired immune responses, and

the incidence of autoimmunity, including hypothyroidism and rare Hashimoto thyroiditis, is

increased.19

Patients with Down syndrome have decreased buffering of physiologic reactions,

resulting in hypersensitivity to pilocarpine and abnormal responses on sensory-evoked

electroencephalographic tracings. Children with leukemic Down syndrome also have

hyperreactivity to methotrexate. Decreased buffering of metabolic processes results in a

predisposition to hyperuricemia and increased insulin resistance. Diabetes mellitus develops

in many affected patients. Premature senescence causes cataracts and Alzheimer disease.

Leukemoid reactions of infancy and an increased risk of acute leukemia indicate bone-

marrow dysfunction.19

Children with Down syndrome are predisposed to developing leukemia, particularly

transient myeloproliferative disorder and acute megakaryocytic leukemia. Nearly all

children with Down syndrome who develop these types of leukemia have mutations in the

hematopoietic transcription factor gene, GATA1. Leukemia in children with Down syndrome

requires at least 3 cooperating events: trisomy 21, a GATA1 mutation, and a third undefined

genetic alteration.19

2.2.5 Clinical Manifestations

Even though people with Down syndrome may have some physical and mental

features in common, symptoms of Down syndrome can range from mild to severe.3

Table 2.2 Clinical manifestation of Down syndrome19

Organ/ System Involved Description

Growth Short stature and obesity occurs during adolescence.

Central nervous system Moderate-to-severe mental retardation occurs, with an
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intelligence quotient (IQ) of 20-85 (mean, approximately

50). Hypotonia improves with age. Articulatory problems

are present. Sleep apnea often results in hypoxemia or

hypercarbia.

Seizure disorder Infantile spasms are the most common seizures observed ininfancy, whereas tonic-clonic seizures are most common in

older patients.

Premature aging Decreased skin tone, early graying or loss of hair,

hypogonadism, cataracts, hearing loss, age-related increase

in hypothyroidism, seizures, neoplasms, degenerative

vascular disease, loss of adaptive abilities, and increased

risk of senile dementia of Alzheimer type are observed.

Skull Brachycephaly, microcephaly, a sloping forehead, a flat

occiput, large fontanels with late closure, a patent metopicsuture, absent frontal and sphenoid sinuses, and hypoplasia

of the maxillary sinuses occur.

Eyes Up-slanting palpebral fissures, bilateral epicanthal folds,

Brushfield spots (speckled iris), refractive errors (50%),

strabismus (44%), nystagmus (20%), blepharitis (33%),

conjunctivitis, tearing from stenotic nasolacrimal ducts,

congenital cataracts (3%), pseudopapilledema, spasm

nutans, acquired lens opacity (30-60%), and keratoconus in

adults are observed.

Nose Hypoplastic nasal bone and flat nasal bridge are typical

characteristics.

Ears The ears are small with an overfolded helix. Chronic otitis

media and hearing loss are common. About 66-89% of

children have a hearing loss of greater than 15-20 dB in at

least 1 ear, as assessed by means of the auditory brainstem

response.

Neck Atlantoaxial instability (14%) can result from laxity of

transverse ligaments that ordinarily hold the odontoid

process close to the anterior arch of the atlas. Laxity cancause backward displacement of the odontoid process,

leading to spinal cord compression in about 2% of children

with Down syndrome.

Chest The internipple distance is decreased.


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Congenital heart defects Congenital heart defects are common (40-50%).

The most common congenital heart defects are endocardial

cushion defect (43%), ventricular septal defect (32%),

secundum atrial septal defect (10%), tetralogy of Fallot

(6%), and isolated patent ductus arteriosus (4%). About30% of patients have several cardiac defects. The most

common lesions are patent ductus arteriosus (16%) and

pulmonic stenosis (9%). About 70% of all endocardial

cushion defects are associated with Down syndrome.

GI system Duodenal atresia or stenosis, Hirschsprung disease (< 1%),

Meckel diverticulum, celiac disease, imperforate anus, and

omphalocele are observed.

Genitourinary tract Renal malformations, hypospadias, micropenis, and

cryptorchidism occur.

Skeleton Short and broad hands, clinodactyly of the fifth fingers

with a single flexion crease (20%), hyperextensible finger

joints, increased space between the great toe and the

second toe (sandal- gap sign), and acquired hip dislocation

(6%) are typical presentations.

Endocrine system Hashimoto thyroiditis that causes hypothyroidism is by far

the most common acquired thyroid disorder in patients

with Down syndrome. The incidence of Graves disease isalso increased.

The prevalence rate of thyroid disorders, such as congenital

hypothyroidism, primary hypothyroidism, autoimmune

thyroiditis, and compensated hypothyroidism or

hyperthyrotropinemia, is reportedly 3-54% in individuals

with Down syndrome and increases with increasing age.

Diabetes and decreased fertility can occur.

Hematologic system Children with Down syndrome have an increased risk ofdeveloping leukemias, including acute lymphoblastic

leukemia and myeloid leukemia.

Although the risk for leukemia is higher in individuals with

Down syndrome, these patients have a lower risk of

developing solid tumors, with the exception of germ cell


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tumors and, perhaps, retinoblastomas and lymphomas.

Immunodeficiency Patients have about a 12-fold increased risk of infectious

diseases, especially pneumonia, because of impaired

cellular immunity.

Skin Xerosis, localized hyperkeratotic lesions, elastosis

serpiginosa, alopecia areata (< 10%), vitiligo, folliculitis,

abscess formation, and recurrent skin infections are

observed.

Dermatoglyphics Distal axial triradius in the palms, transverse palmar

creases, a single flexion crease in the fifth finger, ulnar

loops (often 10), a pattern in hypothenar, and interdigital

III regions are observed.

Neurobehavioral disorders Most children with Down syndrome do not have a

coexisting psychiatric or behavioral disorder. The available

estimates of psychiatric comorbidity range from 18-38%.

The disorders include attention deficit hyperactivity

disorder, oppositional defiant disorder, nonspecific

disruptive disorder, autism spectrum disorders, and

stereotypical movement disorder in prepubertal children

with Down syndrome and depressive illness, obsessive-

compulsive disorder, and psychotic like disorder in

adolescents and adults with Down syndrome.

2.2.6 Diagnosis

There are several prenatal screening and diagnostic tests that can be done during

pregnancy to determine if the baby is at risk of having, or definitely has Down syndrome.21

Down syndrome may be suspected before birth based on physical defects detected

during an ultrasound of the fetus or based on abnormal levels of certain proteins found in the

mother's blood in the first 15 to 16 weeks of pregnancy. Screening for Down syndrome

before 20 weeks of pregnancy is recommended for all women regardless of age.20


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Figure 2.6 Timeline of prenatal testing including prenatal and diagnostic testing22

Other examinations including thyroid function tests, measurement of IgG,

hematologic tests, skeletal radiography, echocardiography, auditory brainstem response

testing, speech evaluation, ophthalmic examination, developmental chart, growth chart, anddental care.

19


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2.2.7 Treatment

There is no cure for a child born with this condition but many symptoms can be

treated and special early intervention programs are enabling these individuals to develop to

their potential.21

Children with Down syndrome can often benefit from speech therapy, occupational

therapy, and exercises for gross and fine motor skills. They might also be helped by special

education and attention at school. Many children can integrate well into regular classes at

school.(Eunice) A child with Down syndrome can usually do most things that any young

child can do such as walking, talking, dressing and being toilet trained although they may do

these things later than other children.21

2.2.8 Prognosis

The aging process seems to be accelerated, but most children with Down syndrome

survive to adulthood. The average age at death is 49; however, many people reach their 50s

or 60s. Symptoms of Alzheimer-like dementia, such as memory loss, further lowering of

intellect, and personality changes, may develop at an early age. Heart abnormalities are often

treatable with drugs or surgery. Heart disease and leukemia account for most deaths among

children with Down syndrome.20

Recent findings indicate that blacks with Down syndrome have a substantially

shorter life span than whites. This finding may be the result of poor access to medical,

educational, and other support services.20


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CHAPTER III

CASE REPORT

3.1ObjectiveThe objective of this paper is to report a case of 8 years 6 months 17 days old boy

with a diagnosis of Tetralogy of Fallot and suspect Down Syndrome.

3.2CaseI, a 8 years 6 months 17 days boy, with 17 kg of BW and 120 cm of BH, came to

pediatric department non-infection unit in H.Adam Malik General Hospital Medan on 17th

October 2011 at 1.00 PM. His main complain was bluish. He had had bluish since he was 3

months old.

Shortness of breath was experienced since he was 1 month old. Shortness of breath

usually occured when he cried, strained, or walked from inside his house to the terrace.

However recently, shortness of breath became more often and occured on mild activities

such as walking to the toilet. He often did a squatting position to reduce his shortness of

breath.

He had fever 2 days before admitted to hospital, fever was not high and resolved by

paracetamol. Fever was often felt by the patient since 1 month old and was recurrent.

No history of cough and cold.

Defecating and urinating were normal.

History of disease:

When 1 month old, he was brought to a pediatrician in Berandan complaining about

fever and shortness of breath. He was diagnosed to have a heart defect however he didnt

have indication for operation yet so he was given antipyretic only.


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At the age of 6 years old, he was brought again to a pediatrician in RSU Tanjung

Pura complaining about bluish, shortness of breath, and fever. The doctor gave him an

antipyretic, propranolol, and was consulted to H. Adam Malik General Hospital Medan. He

was hospitalized in H. Adam Malik General Hospital Medan for half month. Echo, roentgen,

and catheterization results concluded a TOF and he was suggested to undergo operation but

because the patient waited for so long, they decided to return home.

In the last 2 years, the patients symptoms were getting worse so he re-hospitalized

in H. Adam Malik General Hospital Medan.

History of medication: Propranolol, antacid, paracetamol

History of family: unclear

History of parents medication:

After giving birth to her first child, the patients mother consumed oral contraception

for 2,5 years. She then used injection contraception every 3 months following the birth of

her second child for 1 year and continue with oral contraception until now (irregular usage).

History of pregnancy:

9 months pregnancy. On first month of pregnancy, his parent consumed antiemetic

given by midwife. His parent checked her pregnancy only on the 7 th month of pregnancy and

the midwife concluded that the pregnancy is in a good condition. History of hypertension,

fever, diabetes during pregnancy were unclear.

History of birth:

Birth assisted by midwife spontaneously. Baby was born with an intact amnion sac.

After the amnion sac was torn, the baby cried immediately. Bluish was not found. Body

weight, body length, and head circumference were unclear.

History of feeding: 3 months of breast feeding.

History of immunization: complete


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History of growth and development:

His parent admitted that his body weight and length hardly increased compared to his

peer. He was late to develop talking, crawling, and walking skill.

Physical Examination:

Present status: Level of consciousness: compos mentis, body temperature: 37,4C, BW: 17

kg, BL: 120 cm, anemic (-), cyanosis (-), dyspnea (-), icteric (-), oedema (-).

Localized status:

Head : Face: mongoloid

Eyes: Light reflex +/+, isochoric pupil, conjunctiva palpebra inferior pale (-/-),

hypertelorism (+)

Ears: low set ear (+) Nose: nose flare (-) Mouth : cyanosis (+)

Neck : Lymph node enlargement (-), JVP r-2 cmH2O, cannon wave

Thorax : symmetrical fusiform, retraction (-)

HR: 100 bpm regular, systolic murmur (+) grade 3/6 ICR IV LMCS

RR: 24 bpm regular, rales (-)

Abdomen : Soft, non tender, normal peristaltic

Extremities : pulse 100 bpm regular, p/v adequate, warm acral, CRT < 3, clubbing finger

(+), pulsus seller (-), BP: 90/60 mmHg

Anogenitalia : male, within normal limit


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Working diagnosis : Tetralogy of Fallot + suspect Down Syndrome

Therapy :

- O2 1-2 L/i

-

Knee chest position (if spell happens)

- 1350 kcal low salt diet + 34 g protein

Further investigation plan:

Complete Blood Count

Renal Function Test

Liver Function Test

Laboratory Findings:

Hematology

HGB 23.3g% (11.3-14.1)

RBC 10,81 106/mm3 (4.40-4.48)

WBC 6.36 103/mm3 (4.5-13.5)

Ht 76.4% (37-41)

PLT 49 103/mm3 (150-450)

MCV 70.7 fl (81-95)

MCH 21.6 pg (25-29)

MCHC 30.5 g% (29-31)

RDW 28.7% (11.6-14.8)

Diftel:

Neutrophil 46.3% (37-80)

Lymphocyte 39.9% (20-40)

Monocyte 5.2% (2-8)

Eosinophil 7.7% (1-6)

Basophil 0.9% (0-1)

Absolute neutrophil 2.94 103 /L (2.4-7.3)

Absolute lymphocyte 2.54 103/ L (1.7-

5.1)

Absolute monocyte 0.33 103/ L (0.2-0.6)

Absolute eosinophil 0.49 103

/ L (0.1-0,3)

Absolute basophil 0.06 103/ L (0-0.1)

Liver Function Test


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Total Bilirubin 0.44 mg/dL (


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3.2.1Follow UpFOLLOW UP

October 18th

2011

S:

Bluish lips, bluish

fingers & toes

O :

Sensorium: CM; T: 36,5oC; BW: 17 kg

Head :

- Face: mongoloid (+)

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

pale inferior conjunctiva palpebra (-/-) ,

hypertelorism (+)

- Ear: low set ear (+)

- Nose: nose flare (-)

- Mouth: cyanosis (+)

Neck: lymph nodes enlargement (-), JVP r-2

cmH2O, cannon wave (-)

Thorax: symmetrical fusiform, retraction (-)

- HR: 104 bpm, reg, systolic murmur (+)

grade 3/6, ICR III-IV LMCS

- RR: 22 bpm, reg, rales (-)

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

L/S: not palpable

Extremities: pulse 104 bpm, reg, p/v adequate,

warm acral, CRT < 3, clubbing finger (+),pulsus seller (-)

A: TOF + Suspect Down

Syndrome

P:

- O2 1-2 L/i

- Knee chest position (if

spell happens)

- Propranolol 3x15 mg

-

1350 kcal low salt diet

+ 34 g protein

R/ Phlebotomy 250 cc

Laboratory findings:

Hematology

HGB 21.2g% (11.3-14.1)

RBC 9,70 106/mm3 (4.40-4.48)

WBC 11.37 103/mm3 (4.5-13.5)

Ht 69.5% (37-41)

Diftel:

Neutrophil 61.4% (37-80)


Monocyte 5.80% (2-8)


Basophil 0.8% (0-1)


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PLT 96 103/mm3 (150-450)

MCV 71.6 fl (81-95)

MCH 21.9 pg (25-29)

MCHC 30.5 g% (29-31)

RDW 28.4% (11.6-14.8)


Absolute lymphocyte 3.17 103/ L (1.7-5.1)


Absolute eosinophil 0.47 103/ L (0.1-0,3)


Echo result: TOF

October 19th

2001

S:

Bluish lips, bluish

fingers & toes

O:


Head:

-

Face: mongoloid (+)- Eye: light reflex (+/+), isochoric pupil,


hypertelorism (+)







Syndrome

P:

- O2 1-2 L/i

- IVFD RL 20 gtt/i micro

-

Knee chest position (ifspell happens)


- 1350 kcal low salt diet

+ 34 g protein

Phlebotomy ( 250 cc) was

done at 03:00 PM

R/ Routine blood examination


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grade 3/6, ICR III-IV LMCS



L/S: not palpable


warm acral, CRT < 3, clubbing finger (+),pulsus seller (-). BP: 90/20 mmHg

1 hour post phlebotomy

Laboratory findings:Hematology

HGB 18.9g% (11.3-14.1)

RBC 8.65 106/mm3 (4.40-4.48)

WBC 9.88 103/mm3 (4.5-13.5)

Ht 63.5% (37-41)

PLT 45 103/mm3 (150-450)

MCV 73.4 fl (81-95)

MCH 21.8 pg (25-29)

MCHC 29.8g% (29-31)

RDW 27.8% (11.6-14.8)

Diftel:Neutrophil 56% (37-80)


Monocyte 3.8% (2-8)


Basophil 0.8% (0-1)


Absolute lymphocyte 3.21 103/ L (1.7-5.1)


Absolute eosinophil 0.68 103/ L (0.1-0,3)


October 20th

2011

S:

Bluish lips, bluishfingers & toes

O:

Sensorium: CM; T: 36,7oC; BW: 17 kgHead:




hypertelorism (+)





Syndrome

P:

-

O2 1-2 L/i- IVFD RL 20 gtt/i micro


spell happens)



+ 38 g protein


42/66

42





grade 3/6, ICR IV LMCS



L/S: not palpable


warm acral, CRT < 3, clubbing finger (+),pulsus seller (-). TD: 90/30 mmHg

October 21st

2011

S:

Bluish lips, bluish

fingers & toes

O:


Head:




hypertelorism (+)





cmH2O, cannon wave (-)Thorax: symmetrical fusiform, retraction (-)





L/S: not palpable


warm acral, CRT < 3, clubbing finger (+),


Syndrome

P:

- O2 1-2 L/i nasal canule

(if needed)



spell happens)



+ 34 g protein


43/66

43

pulsus seller (-)

October 22nd

2011

S:

Bluish lips, bluish

fingers & toes

O:


Head:




hypertelorism (+)

-

Ear: low set ear (+)- Nose: nose flare (-)









L/S: not palpable




Syndrome

P:


(if needed)



spell happens)


-

1350 kcal low salt diet+ 34 g protein

October 23rd

2011S:

Bluish lips, bluish

fingers & toes

O:


Head:




hypertelorism (+)



Syndrome

P:


(if needed)


aff


spell happens)



44/66

44










L/S: not palpableExtremities: pulse 96 bpm, reg, p/v adequate,



+ 34 g protein

October 24th

2011

S:

Bluish lips, bluish

fingers & toes

O:


Head:




hypertelorism (+)



-

Mouth: cyanosis (+)Neck: lymph nodes enlargement (-), JVP r-2







L/S: not palpable


Syndrome

P:


(if needed)


spell happens)



+ 34 g protein


45/66

45



October 25th

2011

S:

Bluish lips, bluish

fingers & toes

O:


Head:



pale inferior conjunctiva palpebra (-/-) ,hypertelorism (+)











L/S: not palpable




Syndrome

P:


(if needed)


spell happens)

-

Propranolol 3x15 mg- 1350 kcal low salt diet

+ 34 g protein

October 26th

2011

S:

Bluish lips, bluish

fingers & toes

O:


Head:





Syndrome

P:

- O2 1-2 L/i


spell happens)


- Cetirizine 1x4,25mg


46/66

46

hypertelorism (+)









-

RR: 36 bpm, reg, rales (-)Abdomen: soft, non tender, peristaltic (+) N,

L/S: not palpable




+ 34 g protein

Chest pain and spell happened at 11:30 PM. Patient was admitted to PICU

October 27th

2011

S:

Bluish

O:

Central nervous system:

- Stable, sensorium: CM, T: 36,2oC

- Eye: light reflex (+/+), isochoric pupil, 3mm

Cardiovascular system:

-

Unstable, HR: 97 bpm, reg, systolicmurmur (+) grade 3/6 LMCS ICR III/IV

- Pulse 97 bpm, reg, p/v adequate, warm

acral, CRT < 3

- BP: 88/53 mmHg (N: 94-107/56-71

mmHg)

Respiratory system:

- Stable, thorax: symmetrical fusiform,

retraction (-)

A: TOF + Cyanotic spell

with unstable

cardiovascular,

hematology &

musculoskeletal system

P:


(if needed)

- IVFD D5% NaCl

0,45% 10 gtt/i micro


-

Cetirizine 1x4,25 mg- Knee chest position (if

spell happens)


+ 34 g protein


47/66

47

- RR: 27 bpm, reg, rales (-), O2 saturation

93%

Gastrointestinal system: stable, soft, non tender,

peristaltic (+) N, L/R: not palpable

Urogenital system: stable, UOP 330/18 hours

(1,07 cc/kgBW/hour)

Hematology system: unstable, Hb: 18,9g%, Ht:

63,5%, WBC: 9880/mm3, PLT: 45000/mm3

Musculoskeletal system: unstable, clubbing

finger (+), cyanosis (+)BTKV consultations result:

Next approach needed to be discussed (join conference) in the department

October 28th

2011

S:

Bluish

O:



- Eye: light reflex (+/+), isochoric pupil, 3mm

Cardiovascular system:

- Unstable, HR: 88 bpm, reg, systolic

murmur (+) grade 3/6 LMCS ICR III/IV


acral, CRT < 3

-

BP: 105/47 mmHg (N: 94-107/56-71mmHg)

Respiratory system:


retraction (-)




Urogenital system: unstable, UOP 365/24 hours


with unstable

cardiovascular,

hematology &


P:


(if needed)

- IVFD D5% NaCl



- Cetirizine 1x4,25 mg


spell happens)


+ 34 g protein


48/66

48

(0,89 cc/kgBW/hour)

Hematology system: unstable


finger (+), cyanosis (+)

October 29th

2011

S:

Bluish

O:




3mmCardiovascular system:

- Unstable, HR: 116 bpm, reg, systolic

murmur (+) grade 3/6 LMCS ICR III/IV


acral, CRT < 3- BP: 110/60 mmHg (N: 94-107/56-71

mmHg)

Respiratory system:


retraction (-)




Urogenital system: stable, UOP 330/18 hours(1,07 cc/kgBW/hour)

Hematology system: unstable, Hb: 18,9g%, Ht:

63,5%, WBC: 9880/mm3, PLT: 45000/mm3


finger (+), cyanosis (+)


with unstable

cardiovascular,

hematology &


P:

- O2 1-2 L/I nasal canule

- IVFD D5% NaCl


-

Propranolol 3x15 mg- Cetirizine 1x4,25 mg


spell happens)


+ 34 g protein

Back to HCU

R/ Thorax-Cardiovascular

surgeon joint conference

October 30th

2011

S:

Bluish lips, bluish

O:

Sensorium: alert; T: 36,8oC; BW: 17 kg


Syndrome

P:



49/66

49

fingers & toes Head:




hypertelorism (+)










L/S: not palpable


warm acral, CRT < 3, clubbing finger (+),

pulsus seller (-). TD: 90/30 mmHg

(if needed)



- Cetirizine 1x4,25 mg


spell happens)


+ 34 g protein

R/ Full blood count (31st

October 2011)

October 31st

2011

S:

Bluish lips, bluish

fingers & toes

O:


Head:

-

Face: mongoloid (+)- Eye: light reflex (+/+), isochoric pupil,


hypertelorism (+)







Syndrome

P:


(if needed)

-

IVFD D5% NaCl0,45% 10 gtt/i micro



spell happens)


+ 34 g protein


50/66

50






L/S: not palpable



R/ Full blood count

Laboratory findings:Hematology

HGB 16.5g% (11.3-14.1)

RBC 7.43 106/mm3 (4.40-4.48)

WBC 15.63 103/mm3 (4.5-13.5)

Ht 56.6% (37-41)

PLT 78 103/mm3 (150-450)

MCV 76.2 fl (81-95)

MCH 22.2 pg (25-29)

MCHC 29.2 g% (29-31)

RDW 27.4% (11.6-14.8)

LED 60 mm/hour (


51/66

51





grade 3/6, ICR III/IV LMCS



L/S: not palpable

Extremities: pulse 104 bpm, reg, p/v adequate,warm acral, CRT < 3, clubbing finger (+). TD:90/50 mmHg

November 2nd

2011

S:

Bluish, loss of

appetite, malaise

O:


Head:


- Eye: light reflex (+/+), i

Documents

TOF With Suspect DS