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TRANSCRIPT
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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.
With a maternal age of 40 years, the risk is 1 in 106.
With a maternal age of 45 years, the risk is 1 in 30.
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)
Lymphocyte 27.9% (20-40)
Monocyte 5.80% (2-8)
Eosinophil 4.1% (1-6)
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 neutrophil 6.98 103 /L (2.4-7.3)
Absolute lymphocyte 3.17 103/ L (1.7-5.1)
Absolute monocyte 0.66 103/ L (0.2-0.6)
Absolute eosinophil 0.47 103/ L (0.1-0,3)
Absolute basophil 0.113 103/ L (0-0.1)
Echo result: TOF
October 19th
2001
S:
Bluish lips, bluish
fingers & toes
O:
Sensorium: CM; T: 36,6oC; 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 (-)
A: TOF + Suspect Down
Syndrome
P:
- O2 1-2 L/i
- IVFD RL 20 gtt/i micro
-
Knee chest position (ifspell happens)
- Propranolol 3x15 mg
- 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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Thorax: symmetrical fusiform, retraction (-)
- HR: 106 bpm, reg, systolic murmur (+)
grade 3/6, ICR III-IV LMCS
- RR: 24 bpm, reg, rales (-)
Abdomen: soft, non tender, peristaltic (+) N,
L/S: not palpable
Extremities: pulse 106 bpm, reg, p/v adequate,
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)
Lymphocyte 32.5% (20-40)
Monocyte 3.8% (2-8)
Eosinophil 6.9% (1-6)
Basophil 0.8% (0-1)
Absolute neutrophil 5.53 103 /L (2.4-7.3)
Absolute lymphocyte 3.21 103/ L (1.7-5.1)
Absolute monocyte 0.38 103/ L (0.2-0.6)
Absolute eosinophil 0.68 103/ L (0.1-0,3)
Absolute basophil 0.08 103/ L (0-0.1)
October 20th
2011
S:
Bluish lips, bluishfingers & toes
O:
Sensorium: CM; T: 36,7oC; BW: 17 kgHead:
- Face: mongoloid (+)
- Eye: light reflex (+/+), isochoric pupil,
pale inferior conjunctiva palpebra (-/-) ,
hypertelorism (+)
- Ear: low set ear (+)
- Nose: nose flare (-)
- Mouth: cyanosis (+)
A: TOF + Suspect Down
Syndrome
P:
-
O2 1-2 L/i- IVFD RL 20 gtt/i micro
- Knee chest position (if
spell happens)
- Propranolol 3x15 mg
- 1350 kcal low salt diet
+ 38 g protein
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Neck: lymph nodes enlargement (-), JVP r-2
cmH2O, cannon wave (-)
Thorax: symmetrical fusiform, retraction (-)
- HR: 110 bpm, reg, systolic murmur (+)
grade 3/6, ICR IV LMCS
- RR: 26 bpm, reg, rales (-)
Abdomen: soft, non tender, peristaltic (+) N,
L/S: not palpable
Extremities: pulse 110 bpm, reg, p/v adequate,
warm acral, CRT < 3, clubbing finger (+),pulsus seller (-). TD: 90/30 mmHg
October 21st
2011
S:
Bluish lips, bluish
fingers & toes
O:
Sensorium: CM; T: 36,6oC; 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 IV LMCS
- RR: 24 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 (+),
A: TOF + Suspect Down
Syndrome
P:
- O2 1-2 L/i nasal canule
(if needed)
- IVFD RL 10 gtt/i micro
- Knee chest position (if
spell happens)
- Propranolol 3x15 mg
- 1350 kcal low salt diet
+ 34 g protein
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pulsus seller (-)
October 22nd
2011
S:
Bluish lips, bluish
fingers & toes
O:
Sensorium: CM; T: 36,8oC; 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: 100 bpm, reg, systolic murmur (+)
grade 3/6, ICR IV LMCS
- RR: 28 bpm, reg, rales (-)
Abdomen: soft, non tender, peristaltic (+) N,
L/S: not palpable
Extremities: pulse 100 bpm, reg, p/v adequate,
warm acral, CRT < 3, clubbing finger (+),pulsus seller (-). TD: 80/40 mmHg
A: TOF + Suspect Down
Syndrome
P:
- O2 1-2 L/i nasal canule
(if needed)
- IVFD RL 10 gtt/i micro
- Knee chest position (if
spell happens)
- Propranolol 3x15 mg
-
1350 kcal low salt diet+ 34 g protein
October 23rd
2011S:
Bluish lips, bluish
fingers & toes
O:
Sensorium: CM; T: 36,6oC; BW: 17 kg
Head:
- Face: mongoloid (+)
- Eye: light reflex (+/+), isochoric pupil,
pale inferior conjunctiva palpebra (-/-) ,
hypertelorism (+)
- Ear: low set ear (+)
A: TOF + Suspect Down
Syndrome
P:
- O2 1-2 L/i nasal canule
(if needed)
- IVFD RL 10 gtt/i micro
aff
- Knee chest position (if
spell happens)
- Propranolol 3x15 mg
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- Nose: nose flare (-)
- Mouth: cyanosis (+)
Neck: lymph nodes enlargement (-), JVP r-2
cmH2O, cannon wave (-)
Thorax: symmetrical fusiform, retraction (-)
- HR: 96 bpm, reg, systolic murmur (+)
grade 3/6, ICR IV LMCS
- RR: 24 bpm, reg, rales (-)
Abdomen: soft, non tender, peristaltic (+) N,
L/S: not palpableExtremities: pulse 96 bpm, reg, p/v adequate,
warm acral, CRT < 3, clubbing finger (+),pulsus seller (-). TD: 90/30 mmHg
- 1350 kcal low salt diet
+ 34 g protein
October 24th
2011
S:
Bluish lips, bluish
fingers & toes
O:
Sensorium: CM; T: 36,6oC; 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: 100 bpm, reg, systolic murmur (+)
grade 3/6, ICR IV LMCS
- RR: 28 bpm, reg, rales (-)
Abdomen: soft, non tender, peristaltic (+) N,
L/S: not palpable
A: TOF + Suspect Down
Syndrome
P:
- O2 1-2 L/i nasal canule
(if needed)
- Knee chest position (if
spell happens)
- Propranolol 3x15 mg
- 1350 kcal low salt diet
+ 34 g protein
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Extremities: pulse 100 bpm, reg, p/v adequate,
warm acral, CRT < 3, clubbing finger (+),pulsus seller (-). TD: 80/40 mmHg
October 25th
2011
S:
Bluish lips, bluish
fingers & toes
O:
Sensorium: CM; T: 36,8oC; 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: 100 bpm, reg, systolic murmur (+)
grade 3/6, ICR IV LMCS
- RR: 32 bpm, reg, rales (-)
Abdomen: soft, non tender, peristaltic (+) N,
L/S: not palpable
Extremities: pulse 100 bpm, reg, p/v adequate,
warm acral, CRT < 3, clubbing finger (+),pulsus seller (-)
A: TOF + Suspect Down
Syndrome
P:
- O2 1-2 L/i nasal canule
(if needed)
- Knee chest position (if
spell happens)
-
Propranolol 3x15 mg- 1350 kcal low salt diet
+ 34 g protein
October 26th
2011
S:
Bluish lips, bluish
fingers & toes
O:
Sensorium: CM; T: 36,6oC; BW: 17 kg
Head:
- Face: mongoloid (+)
- Eye: light reflex (+/+), isochoric pupil,
pale inferior conjunctiva palpebra (-/-) ,
A: TOF + Suspect Down
Syndrome
P:
- O2 1-2 L/i
- Knee chest position (if
spell happens)
- Propranolol 3x15 mg
- Cetirizine 1x4,25mg
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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: 100 bpm, reg, systolic murmur (+)
grade 3/6, ICR IV LMCS
-
RR: 36 bpm, reg, rales (-)Abdomen: soft, non tender, peristaltic (+) N,
L/S: not palpable
Extremities: pulse 100 bpm, reg, p/v adequate,
warm acral, CRT < 3, clubbing finger (+),pulsus seller (-)
- 1350 kcal low salt diet
+ 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:
- O2 1-2 L/i nasal canule
(if needed)
- IVFD D5% NaCl
0,45% 10 gtt/i micro
- Propranolol 3x15 mg
-
Cetirizine 1x4,25 mg- Knee chest position (if
spell happens)
- 1350 kcal low salt diet
+ 34 g protein
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- 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:
Central nervous system:
- Stable, sensorium: CM, T: 36,5oC
- Eye: light reflex (+/+), isochoric pupil, 3mm
Cardiovascular system:
- Unstable, HR: 88 bpm, reg, systolic
murmur (+) grade 3/6 LMCS ICR III/IV
- Pulse 88 bpm, reg, p/v adequate, warm
acral, CRT < 3
-
BP: 105/47 mmHg (N: 94-107/56-71mmHg)
Respiratory system:
- Stable, thorax: symmetrical fusiform,
retraction (-)
- RR: 26 bpm, reg, rales (-)
Gastrointestinal system: stable, soft, non tender,
peristaltic (+) N, L/R: not palpable
Urogenital system: unstable, UOP 365/24 hours
A: TOF + Cyanotic spell
with unstable
cardiovascular,
hematology &
musculoskeletal system
P:
- O2 1-2 L/i nasal canule
(if needed)
- IVFD D5% NaCl
0,45% 10 gtt/i micro
- Propranolol 3x15 mg
- Cetirizine 1x4,25 mg
- Knee chest position (if
spell happens)
- 1350 kcal low salt diet
+ 34 g protein
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(0,89 cc/kgBW/hour)
Hematology system: unstable
Musculoskeletal system: unstable, clubbing
finger (+), cyanosis (+)
October 29th
2011
S:
Bluish
O:
Central nervous system:
- Stable, sensorium: CM, T: 36,6oC
- Eye: light reflex (+/+), isochoric pupil,
3mmCardiovascular system:
- Unstable, HR: 116 bpm, reg, systolic
murmur (+) grade 3/6 LMCS ICR III/IV
- Pulse 116 bpm, reg, p/v adequate, warm
acral, CRT < 3- BP: 110/60 mmHg (N: 94-107/56-71
mmHg)
Respiratory system:
- Stable, thorax: symmetrical fusiform,
retraction (-)
- RR: 32 bpm, reg, rales (-)
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 (+)
A: TOF + Cyanotic spell
with unstable
cardiovascular,
hematology &
musculoskeletal system
P:
- O2 1-2 L/I nasal canule
- IVFD D5% NaCl
0,45% 10 gtt/i micro
-
Propranolol 3x15 mg- Cetirizine 1x4,25 mg
- Knee chest position (if
spell happens)
- 1350 kcal low salt diet
+ 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
A: TOF + Suspect Down
Syndrome
P:
- O2 1-2 L/i nasal canule
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fingers & toes 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: 96 bpm, reg, systolic murmur (+)
grade 3/6, ICR IV LMCS
- RR: 26 bpm, reg, rales (-)
Abdomen: soft, non tender, peristaltic (+) N,
L/S: not palpable
Extremities: pulse 96 bpm, reg, p/v adequate,
warm acral, CRT < 3, clubbing finger (+),
pulsus seller (-). TD: 90/30 mmHg
(if needed)
- IVFD RL 10 gtt/i micro
- Propranolol 3x15 mg
- Cetirizine 1x4,25 mg
- Knee chest position (if
spell happens)
- 1350 kcal low salt diet
+ 34 g protein
R/ Full blood count (31st
October 2011)
October 31st
2011
S:
Bluish lips, bluish
fingers & toes
O:
Sensorium: CM; T: 36,7oC; 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 (-)
A: TOF + Suspect Down
Syndrome
P:
- O2 1-2 L/i nasal canule
(if needed)
-
IVFD D5% NaCl0,45% 10 gtt/i micro
- Propranolol 3x15 mg
- Knee chest position (if
spell happens)
- 1350 kcal low salt diet
+ 34 g protein
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Thorax: symmetrical fusiform, retraction (-)
- HR: 110 bpm, reg, systolic murmur (+)
grade 3/6, ICR IV LMCS
- RR: 32 bpm, reg, rales (-)
Abdomen: soft, non tender, peristaltic (+) N,
L/S: not palpable
Extremities: pulse 110 bpm, reg, p/v adequate,
warm acral, CRT < 3, clubbing finger (+),pulsus seller (-). TD: 90/50 mmHg
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 (
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- 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: 30 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 (+). TD:90/50 mmHg
November 2nd
2011
S:
Bluish, loss of
appetite, malaise
O:
Sensorium: CM; T: 36,6oC; BW: 17 kg
Head:
- Face: mongoloid (+)
- Eye: light reflex (+/+), i