TETRALOGY OF FALLOT

Presentators Day, Date Supervisor

: Anditha Namira Rezky S dan Ghazali Akhmad P : Monday, April 22th 2013 : dr. Ridwan Daulay , Sp.A (K)

CHAPTER 1 INTRODUCTION 1.1. Background Congenital heart disease in infants and children is quite commonly found in Indonesia. Reports from various overseas studies show 6-10 of 100 infants born alive had congenital heart disease. Congenital heart disease is still unclear, however, its influenced by various factors. There is a tendency to develop some congenital heart disease in one family. Complete the formation of the fetal heart occurs at the end the first half could potentially interfere with the formation of the heart. Such factors include exposure to xrays, physical trauma and psychic, and drink herbal or birth control pills. Broadly speaking heart disease Congenital divided into 2 groups, namely non-cyanotic disease congenital heart disease and congenital cyanotic heart disease. Congenital heart disease is a group of non-cyanotic disease; include about 75% of the congenital heart disease and all the rest is a group of diseases cyanotic congenital heart about 25%. Disease are included in non-cyanotic congenital heart are persistent ductus arteriosus (PDA), atrial septal defect (ASD), ventricular septal defect (VSD). Cyanotic congenital heart disease such as Tetralogy of Fallot (TOF), transposition of the great arteries (TGA), double outlet right ventricle (DORV) .1 Tetralogy of Fallot (TOF) is a congenital cyanotic heart disease. The most commonly found where TOF was fourth disease congenital heart disease in children after ventricular septal defect, atrial septal defect, and persistent ductus arteriosus or approximately 10-15% of all disease. Congenital heart, congenital cyanotic heart disease among TOF is two thirds. In Dr.Soetomo hospital, most TOF patients obtained above age 5 years and the prevalence decreased after age 10 years.2

TOF consists of four abnormalities such as ventricle septal defect, pulmonary stenosis, overiding aorta and the right ventricle hypertrophy. Children with this disorder will be cyanotic at birth due to hypoxia. Growth and development of children will be disturbed compared with peers. This combination of lesions occurs in 3 every 10.000 live births and accounts for 7-10% of all congenital cardiac malformations. Patients nowadays usually present as neonates, which cyanosis of varying intensity based on the degree of obstruction to flow of blood to lungs. The etiology is multifactorial, but reported associations include untreated maternal diabetes, phenylketonuria and intake of retinoid acid. Associated chromosomal anomalies can include trisomies 21, 18 and 13, but recent experience points to the much more frequent associaton of microdeletions of chromosome 22. The risk of reccurence in families is 3%. Useful diagnostic tests are chest radiograph, electrocardiogram and

echocardiogram. The echocardiogram estabilishes the definitive diagnosis and usually provides sufficient information for planning of treatment, which is surgical. Approximately half of patients are now diagnosed antenatally.3

1.2. Objective The aim of this study is to explore more about the theoritical aspects on Tetralogy of Fallot, and to integrate the theory and application of Tetralogy of Fallot case in daily life.

CHAPTER 2 LITERATURE REVIEW

2.1. Definition In 1888, Fallot described a congenital heart defect composed of four characteristics: large ventricular septal defect (VSD), Pulmonary Stenosis, Overriding aorta and right ventricular hypertrophy. 4 The complex of anatomic malformations result from an anterior displacement of the conoceptum toward the right ventricle creating a malalignment VSD and narrowing of the outflow tract of the right ventricel (RV). The aorta is displaced anteriorly, straddling the muscular septum and arising from both ventricles (overriding aorta). 5

2.2. Epidemiology Tetralogy of Fallot (ToF) is the most common cyanotic congenital heart disease in all age groups, Tetralogy of Fallot represents approximately 10% of cases of congenital heart deseases (CHD), occurs in 3-6 infants for every 10.000 births. This disorder accounts for one third of all CHD in patients younger that 15 years. 6 In most cases, Tetralogy of Fallot in sporadic and nonfamilial. The incidence in siblings of affected parents is 1-5% and it occurs more commonly in males than females. The disorders is associated with extracardiac anomalies such as cleft lip and palate, hypospadias and skeletal abnormalities. Genetics studies indicate that in some patients with tetralogy of fallot, there may be 22q11.2 deletion and other submicroscopic copy number alterations. 7

2.3. Etiology The causes of most congenital heart deseases are unknown, although genetic studies suggest a multifactorial etiology. A study from portugal reported that methylene tetrahydrofolate reductase (MTHFR) gene polymorphysm can be considered a suspectibility gene of Tetralogy of Fallot. 8 Prenatal factors associated with a higher incidence of tetralogy of fallot (TOF) include congenital rubella or other viral illnesses during pregnancy, poor prenatal

nutrition, maternal alcohol concumption, maternal age older than 40 years, maternal phenylketonuria birth defects, and diabetes. Children with down syndrome also have higher incidence of tetralogy of fallot, as do infants with fetal hydantoin syndrome or fetal carbamazepine syndrome. As one of the conotruncal malformations, tetralogy of Fallot can be associated with a spectrum lessions known as CATCH 2(cardiac defects, abnormal facies, thymic hipoplasia, cleft palate, hypocalcemia). Cytogenetic analysis may demonstrate deletions of a segment of chromosome band 22q11. Ablation of cells of the neuralcrest has been shown to reproduce conotruncal malformation. 9

2.4. Pathology of Tetralogy of Fallot Ventricular Septal Defect The heart has an inner wall that separates the two chambers on its left side from the two chambers on its right side. This wall is called a septum. The septum prevents blood from mixing between the two sides of the heart. A VSD is a hole in the septum between the hearts two lower chambers, the ventricels. The hole allows oxygen-rich blood from the left ventricle to mix with oxygen-poor blood from the right ventricle.

Pulmonary Stenosis This defect involves narrowing of the pulmonary valve and the passage from the right ventricle to the pulmonary artery. Normally, oxygen-poor blood from the right ventricle flows through the pulmonary valve and into the pulmonary artery. From there, the blood travels to the lungs to pick up oxygen. In pulmonary stenosis, the pulmonary valve cannot fully open, Thus , the heart has to work harder to pump blood through the valve. As a result, not enough blood reaches the lungs.

Right Ventricular Hypertrophy With this defect, the muscle of the right ventricel is thicker than usual. This occurs because the heart has to work harder than normal to move blood through the narrowed pulmonary valve.

Overriding Aorta This defect occurs in the aorta, the main artery that carries oxygen-rich blood from the heart to the body. In a healthy heart, the aorta is attached to the left ventricel. This allows only oxygen-rich blood to flow the body. In tetralogy of fallot, the aorta is located between the left and right ventricles, directly over the VSD. As a result, oxygen-poor blood from the right ventricle flows directly into the aorta instead of into the pulmonary valve. 10

2.5. Pathophisiology The physiologic consequences of tetralogy of fallot are lergely dependent upon the degree of right ventricular outflow obstruction. Since the VSD is typically large and unrestrictive, the pressure in the right ventricle reflects that of the left ventricle. As a result, the direction of blood flow across the VSD will be determined by the path of least resistence for blood flow, not by the size of the VSD. If the resistenceto blood flow across the obstructed right ventricular outflow tract is less than the resistence to flow out of the aorta into the systemic circulation, blood will naturally shunt from the left ventricle

to the right ventricle and into the pulmonary bed. In this situation, there is predominately a left-to-right shunt and the patient will be a cyanotic. As the degree of right ventricular outflow obstruction increases, the resitence to blood flow into the pulmonary bed also increases. If the right ventricular obstruction is significant enough to increase resistance, it will be easier for blood to across the VSD from the right ventricle into the left ventricle and go out the aorta, which now becomes the path of least resistance. This right-to-left shunt across the VSD will result in a large volume of desaturated blood entering the systemic circulation and cyanosis and polycythemia will ensue. One of the fascinating physiologic characteristics of tetralogy of Fallot is that the right ventricular outflow obstruction can fluctuate. An individual with minimal cyanosis can develop a dynamic increase in right ventricular outflow tract obstruction with a subsequent increase in right-to-left shunt an the development of cyanosis. In the most dramatic situation, there can be near occlusion of the right ventricular outflow tract with profound cyanosis. These episodes are often referred as tet spells of hypercyanotic spells. The exact etiology of these episodes in unclear, although there have been a number of proposed mechanisms, including increased infundibular contractility, peripheral vasodilatation, hyperventilation and stimulation of right ventricular mechanoreceptors. 11

2.6. Clinical Presentation History The clinical features of tetralogy of Fallot (TOF) are directly related to the severity of the anatomic defects. Most infants with tetralogy of fallot have difficulty with feeding, and failure to thrive (FTT) is commonly observed. Infants with pulmonarry atresia may become profoundly cyanotic as the ductus arterosus closes unless bronchopulmonary colaterals are present. Occasionally, some children have just enough pulmonary blood flow and do not appear cyanotic. These individuals remain asymptomatic, until they outgrow their pulmonary blood supply. At birth, some infants with tetralogy of Fallot do not show signs of cyanosis, but they may later develop episodes of bluish pale skin during crying or feeding (tet spells).

Hypoxic tet spells are potentially lethal, unpredictable episodes that occur even in noncyanotic patients with tetralogy of fallot. The mechanism is thought to include spasm of the infundibular septum, which acutely worsens the right ventricular (RV) outflow tract obstruction. These spells can be aborted with relatively simple procedurs. A characteristics fashion ini which older children with tetralogy of faqllot increase pulmonary blood flow is to squat. Squatting is a compensatory mechanism , of diagnostic significance, and highly typical of infants with tetralogy of fallot. Squatting increases peripheral vascular resistance (PVR) and thus decreases the magnitude of the right-to-left shunt across the ventricular septal defect (VSD). Exertional dyspnea usually worsen with age. Occasionally, hemoptysisi due to rupture of the bronchial collaterals may result in the older child. The rare patient may remaun marginally and imperceptibly cyanotic, or acyanotic and asymptomatic, into adult life. The predominant shunt is from right to left with flow accross the VSD into the left ventricle (LV), 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 pink tetralogy. Although such patients may not appear cyanotic, they often have oxygen desaturation in the systemic circulation. Symptoms generally progress secondary to hypertrophy of the infundibular septum. Worsening of the RVOTO leads to RV hypertrophy, increased right-to-left shunting and systemic hypoxemia.

Physical Examination Most infants with tetralogy of fallot (TOF) are smaller than expected for age. Cyanosis of the lips and nail bed is usually pronounced at birth, after age 3-6 months, the fingers and toes show clubbing. A systolic thrill is usually present anteriorly along the left sternal border. A harsh systolic ejection murmur (SEM) is hard ovel the pulmonic area and left sternal border. When the right ventricular (RV) outflow tract obstruction (RVOTO) is moderate, the murmur may be inaudible (more cyanotic patients have greater obstruction and soften

murmur). The S2 is usually single (the pulmonaic valve closure is not heard). During cyanotic episodes, murmur may disappearm which is suggestive of lessened RV outflow to the pulmonary arteries. In individuals with aortapulmonary collaterals, continuous murmurs may be auscultated. Thus, an acyanotic patient with tetralogy of fallot (pink tet) has a long, loud, systolic murmur with a thrill along the RVOT. 12 The following may also be noted: 1. RV predominance on palpation 2. May have a bulging left hemithorax 3. Aortic ejection click 4. Squatting position (compensatory mechanism) 5. Scoliosis (common) 6. Retinal engorgement 7. Hemoptysis.

2.7. Diagnosis Patients with TOF have a number of distinguishing signs and symptoms that can be found on physical exam and elucidated with a detailed history.

Cardiac exam: Most importantly, the heart murmur heart in TOF is not due to the VSD. It is infact due to the right ventricular outflow obstruction. The murmur is typically crescendo decrescendo with a harsh systolic ejection quality. It is appreciated best along the left mid to upper sternal border with radiation posteriorly. (Remember, an isolated VSD murmur is a holosystolic murmur, best heard in the tricuspid area. It may radiate to the right lower sternal border.) Patients will have a normal S1 and possibly a single S2 due to diminished P2 component.

Cyanosis: If patients are cyanotic, this is most commonly seen on the lips or nail beds.

Tet spells: Tet spells are hypercyanotic episodes precipitated by a sudden increase in right to left shunting of blood. They can be elicited by activity (e.g. feeding, crying), or they may occur without warning. The classic description is of a patient who becomes cyanotic and then assumes a squatting position to relieve the cyanosis and hypoxia. Squatting serves to increase peripheral vascular resistance, thereby increasing the pressure in the left heart, and subsequently forcing blood back into the pulmonary circulation. Chest XRay: As seen on the chest xray below, patients with TOF have right ventricular hypertrophy, a boot shaped heart and decreased pulmonary vascular markings.

Electrocardiogram: On EKG, patients with TOF will show increased right ventricular forces as evidenced by tall R waves in V1. Additionally, right atrial enlargement is manifested by prominent P waves in V1. Right ventricular hypertrophy is demonstrated by a rightward deviated axis.

Echocardiogram: Findings on echocardiogram are the mainstay of diagnosis in TOF. Echocardiogram will demonstrate a ventricular septal defect with an overriding of the

aorta, pulmonic stenosis and right ventricular hypertrophy. This constellation of findings serves to clinch the diagnosis of TOF. In about 25% of cases, patients will also have a right aortic arch. As seen in the echocardiogram below, the blood (blue) from both the right ventricle and left ventricle enters the overriding aorta across the VSD. 6

2.8. Treatment Once TOF is diagnosed, almost all patients undergo corrective surgical repair within the first year of life. In the interim period, prostaglandin treatment may be necessary to maintain the patency of the ductus arteriosus. Additionally, some patients may require digoxin or diuretics if signs of heart failure are present. Treatment of hypercyanotic spells is directed towards improving pulmonary blood flow. These include oxygen, knee/chest position, morphine, intravenous fluids, sodium bicarbonate, betablockers or pharmacologically increasing systemic vascular resistance by administration of drugs, such as phenylephrine. Once an infant has developed progressive cyanosis or has evidence of hypercyanotic spells, surgical correction is indicated. There are two common surgical procedures: BlalockTaussig shunt creates a shunt between the aorta and the pulmonary artery using the subclavian artery. This is used as a palliative procedure in infants who are not acceptable candidates for intracardiac repair due to prematurity, hypoplastic pulmonary arteries, or coronary artery anatomy. Patients will require additional surgery as this is not a curative surgery.

Intracardiac repair Is the definitive repair for patients with TOF and is the preferable procedure. This consists of patch closure of the ventricular septal defect, and enlargement of the RVOT with relief of all sources of obstruction. In some cases, the pulmonary valve may need to be removed to eliminate the obstruction.

Outcome and Complications: Overall, patients undergoing surgical repair for TOF have an excellent prognosis with a 20year survival rate of over 90%. Complications of surgical repair of TOF include arrhythmias particularly ventricular tachycardia (VT), and atrial arrhythmias. Furthermore, patients may experience right ventricular hypertrophy or enlargement due to residual pulmonary stenosis and backward blood flow into the right ventricle.

Longterm complications include the need for additional surgeries, neurodevelopmental delay and myocardial fibrosis. Patients should be followed closely by a pediatric cardiologist to monitor for these shortterm and longterm complications. 6

2.8. Differential Diagnosis 1. Atresia Pulmonal 2. Double Outlet Right Ventricle 3. Transposition of Great Artery

2.9. Complication 1. Chronic Organ Hypoxia. 2. Policytemia 3.Cyanotic spell 4. Abcess Cerebry

2.10. Prognosis Early surgery is not indicated for all infants with tetralogy of Fallot (TOF), although, without surgery, the natural progression of the disorder indicates a poor prognosis. The progression of the disorder depends on the severity of right ventricular (RV) outflow tract obstruction (RVOTO). In the present era of cardiac surgery, children with simple forms of tetralogy of Fallot enjoy good long-term survival with an excellent quality of life. Late outcome data suggest that most survivors are in New York Heart Association (NYHA), although maximal exercise capability is reduced in some. Sudden death from ventricular arrhythmias has been reported in 1-5% of patients at a later stage in life, and the cause remains unknown. It has been suspected that ventricular dysfunction may be the cause. One study found left ventricular longitudinal dysfunction to be associated with a greater risk of developing life-threatening arrhythmias. Continued cardiac monitoring into adult life is necessary. For some time, it

has been suspected that certain children may have inherited a predispostion to developing long QT syndrome. A 2012 study by Chiu confirmed this suspicion13 If left untreated, patients with tetralogy of Fallot face additional risks that include paradoxical emboli leading to stroke, pulmonary embolus, and subacute bacterial endocarditis. It is well known that children with congenital heart disease are prone to stroke. In most of these children the causes of stroke have been related to thromboemboli, prolonged hypotension/anoxix and polycythemia. What is often forgotten is that residual shunts or a patent foramen ovale are also known causes of strokes. The investigation of strokes in these children usually begins with a CT scan of the brain followed by an ECHO. Without surgery, mortality rates gradually increase, ranging from 30% at age 2 years to 50% by age 6 years. The mortality rate is highest in the first year and then remains constant until the second decade. No more than 20% of patients can be expected to reach the age of 10 years, and fewer than 5-10% of patients are alive by the end of their second decade. Most individuals who survive to age 30 years develop congestive heart failure (CHF), although individuals whose shunts produce minimal hemodynamic compromise have been noted, albeit rarely, and these individuals achieve a normal life span. However, cases of survival of patients into their 80s have been reported. Due to advanced surgical techniques, a 40% reduction in deaths associated with tetralogy of Fallot was noted from 1979 to 2005. As might be expected, individuals with tetralogy of Fallot and pulmonary atresia have the worst prognoses, and only 50% survive to age 1 year and 8% to age 10 years. 13

CHAPTER III CASE REPORT

Name Age Sex Date of Admission

:MF : 4 years 4 months : Male : March, 26th 2013

Main Complaint

: Dyspnea

History

: Patient has been experiencing dyspnea since two years ago, and worsen

while walking and crying. Cyanotic (+), patient experienced since the age of 2 years, cyanotic lips, both fingers and toes (+) . Cough (+) 3 days ago, non-productive cough. History of recurrent fever (+) from patients aged 2 years. Currently fever (-) a history of seizures (+) at the age of 3 months to 1 year of age. Current seizures (-). Red skin spots (+) since 3 days.

History of growth development : Patient has not able to say words. History of immunisation : Never.

History of illness

: Patient was a reffered patient from RS Tanjung Balai and was diagnosed susp. TOF.

Physical Examination Generalized status Body weight Body length BW/BL BW/age BL/age : 11 kg. : 90 cm. : 84% : 61% : 72%

Present status Sens. Compos Mentis, Body temperature: 36,3oC, Pulse: 136x/ minute, Respiratory Rate: 48 x/ minute. Anemic (-). Icteric (-). Cyanosis (+). Edema (-). Dyspnea (+).

Localized status Head : Light reflex (+/+), Isochoric pupil. paleness inferior palpebra

conjunctiva (-/-). Ear/Mouth/Nose: within normal limit. Neck Thorax : Lymph node enlargement (-). : Symmetrical fusiformis. Chest retraction (+) epigastrial. HR: 136

x/i, reguler, murmur (+) systolic grd III-IV LMCS. RR: 48x/i, reguler. Crackles (-/-). Abdomen undeterminate. Extremities : Upper extremities: Pulse 136x/i, regular, adequate pressure and volume, warm acral, CRT < 3. Lower extremities: oedem (-/-). BP: 100/60 Urogenital : Male, Normal in appearance. : Soepel, Peristaltic (+) normal. Liver/Spleen/Renal:

Differential Diagnosis Cyanotic Congenital Heart Disease ec - TOF - TGA Working Diagnosis Cyanotic Congenital Heart Disease ec - TOF - TGA Management: O2 nasal canule 1 L/i

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FOLLOW UP March 26th 2013 S: Dyspnea O: Sens: CM, Temp: 36,7oC. Anemic (-), Icteric (-), Dyspnea (-), Edema (-), Cyanosis (+). Body weight: 11 kg, Body length: 90 cm. Head Light reflex (+/+), Isochoric pupil. paleness inferior palpebra conjunctiva (-/-). Ear/Mouth/Nose: within normal limit. Thorax Symmetrical fusiformis. Chest retraction (+) epigastrial. HR: 128x/i, reguler, murmur (+) systolic grd III-IV LMCS. RR: 36x/i, reguler. Crackles (-/-). Abdomen Soepel. Peristaltic (+) normal. Liver/Spleen/Renal: undeterminate. Extremities Upper extremities: Pulse 128x/i, regular, adequate pressure and volume, warm acral, CRT < 3. Lower extremities: oedem (-/-). Genital Male, normal in appearance. Laboratory Findings : Hematology Lab Results : (26-03-2013) Parameters Hemoglobin (HGB) Eritrosit (RBC) Leukosit (WBC) Hematokrit Trombosit MCV MCH MCHC RDW Diftel Neutrofil Limfosit Monosit 28,90% 56,30% 6,10% 37-80% 20-40% 2 - 8% Value 17,40 g % 6,94x106/mm3 7,04x103/mm3 51.80% 52x103/mm3 74,60 fL 25,10 pg 33,60 g % 16.50% Normal Value 11.3-14.1 g % 4.40-4.48x106/mm3 4.5-13.5x103/mm3 37-41% 217-497x103/mm3 82-95 fL 25-29 pg 29-31 g % 11.6-14.8 %

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Eosinofil Basofil Neutrofil Absolut Limfosit Absolut Monosit Absolut Eosinofil Absolut Basofil Absolut Blood Gas Analysis Test PH pCO2 pO2 Bicarbonate (HCO3) Total CO2 BE Saturation O2 Glucose Metabolism Blood Glucose ( sewaktu) Renal Ureum Creatinin Electrolit Natrium (Na) Kalium (K) Klorida (Cl)

8,10% 0.600% 2,04x103/L 3,96x103/L 0,43x103/L 0,57x103/L 0,04x103/L

1-6% 0 - 1% 2.4-7.3x103/L 1.7-5.1x103/L 0.2-0.6x103/L 0.10-0.30x103/L 0-0.1x103/L

7,323 21,1 mmHg 122 mmHg 10,7 mmol/L 11,4 mmol/L -13,4 mmol/L 98,1%

7,35-7,45 38-42 mmHg 85-100 mmHg 22-26 mmol/L 19-25 mmol/L (-2) (+2) g/dL 95-100%

132,00 mg/dl

< 200 mg/dl

13,40 mg/dL 0,29 mg/dL

< 50 mg/dL 0.31-0.47 mg/dL

130 mEq/L 5,3 mEq/L 107 mEq/L

135-155 mEq/L 3.6-5.5 mEq/L 96-106 mEq/L

Morfology: - Eritrosit: Normal, Anisositosis, Target cell (+) - Leukosit: Normal, Atypical lymfosit - Trombosit: Jumlah

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Radiology Results: Both sinus and diafragm are normal. Theres no infiltrat in both lungs. Cardia (CTR: 64%) enlargement boot shape like. Conclusion: Normal Lungs Appearence, Cardiomegaly (CHD), suspect TOF.

A: - Cyanotic Congenital Heart Disease ec - TOF - TGA P: - O2 nasal canule 1 L/i Diet MB 1050 kcal with 22 gr protein Consultation : Cardiology

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March 27 2013 March 28 2013 S: Dyspnea (-), Cyanotic (-) O: Sens: CM, Temp: 37oC. Anemic (-), Icteric (-), Dyspnea (-), Edema (-), Cyanosis (-). Body weight: 11 kg Head Light reflex (+/+), Isochoric pupil. paleness inferior palpebra conjunctiva (-/-). Ear/Mouth/Nose: within normal limit. Thorax Symmetrical fusiformis. Chest retraction (+) epigastrial. HR: 110x/i, reguler, murmur (+) systolic grd III-IV LMCS. RR: 30x/i, reguler. Crackles (-/-). Abdomen Soepel. Peristaltic (+) normal. Liver/Spleen/Renal: undeterminate. Extremities Upper extremities: Pulse 110x/i, regular, adequate pressure and volume, warm acral, CRT < 3. Lower extremities: oedem (-/-). Genital Male, normal in appearance.

th

th

A: - Cyanotic Congenital Heart Disease ec - TOF - TGA P : Management March 27th 2013 - O2 nasal canule L/i Diet MB 1050 kcal with 22 gr protein R/ Echocardiografi

Management March 28th 2013 - O2 nasal canule L/i Diet MB 1050 kcal with 22 gr protein

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March 29th 2013 S: Dyspnea (-), Cyanotic (-) O: Sens: CM, Temp: 36,6oC. Anemic (-), Icteric (-), Dyspnea (-), Edema (-), Cyanosis (-). Body weight: 11 kg Head Light reflex (+/+), Isochoric pupil. paleness inferior palpebra conjunctiva (-/-). Ear/Mouth/Nose: within normal limit. Thorax Symmetrical fusiformis. Chest retraction (+) epigastrial. HR: 98x/i, reguler, murmur (+) systolic grd III-IV LMCS. RR: 26x/i, reguler. Crackles (-/-). Abdomen Soepel. Peristaltic (+) normal. Liver/Spleen/Renal: undeterminate. Extremities Upper extremities: Pulse 98x/i, regular, adequate pressure and volume, warm acral, CRT < 3. Lower extremities: oedem (-/-). Genital Male, normal in appearance. A: - Cyanotic Congenital Heart Disease ec - TOF - TGA P: - O2 nasal canule L/i Diet MB 1050 kcal with 22 gr protein

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March 30th 2013 April 1st 2013 S: Dyspnea (-), Cyanotic (-) O: Sens: CM, Temp: 36,9oC. Anemic (-), Icteric (-), Dyspnea (-), Edema (-), Cyanosis (-). Body weight: 11 kg Head Light reflex (+/+), Isochoric pupil. paleness inferior palpebra conjunctiva (-/-). Ear/Mouth/Nose: within normal limit. Thorax Symmetrical fusiformis. Chest retraction (+) epigastrial. HR: 100x/i, reguler, murmur (+) systolic grd III-IV LMCS. RR: 26x/i, reguler. Crackles (-/-). Abdomen Soepel. Peristaltic (+) normal. Liver/Spleen/Renal: undeterminate. Extremities Upper extremities: Pulse 100x/i, regular, adequate pressure and volume, warm acral, CRT < 3. Lower extremities: oedem (-/-). Genital Male, normal in appearance.

Laboratory Findings : Echocardiografy Results (28/03/2013): Right Ventricular Hypertrophy VSD: 10,8 mm Overring Aorta >50% PS boat PG 90.96 mmHg RPA 7 mm, LPA 7,2 mm

A: - TOF

P: - O2 nasal canule L/i Diet MB 1050 kcal with 22 gr protein

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April 2nd 2013 April 4th 2013 S: Dyspnea (-), Cyanotic (-) O: Sens: CM, Temp: 37oC. Anemic (-), Icteric (-), Dyspnea (-), Edema (-), Cyanosis (-). Body weight: 11 kg Head Light reflex (+/+), Isochoric pupil. paleness inferior palpebra conjunctiva (-/-). Ear/Mouth/Nose: within normal limit. Thorax Symmetrical fusiformis. Chest retraction (+) epigastrial. HR: 104x/i, reguler, murmur (+) systolic grd III-IV LMCS. RR: 28x/i, reguler. Crackles (-/-). Abdomen Soepel. Peristaltic (+) normal. Liver/Spleen/Renal: undeterminate. Extremities Upper extremities: Pulse 104x/i, regular, adequate pressure and volume, warm acral, CRT < 3. Lower extremities: oedem (-/-). Genital Male, normal in appearance. Laboratory Findings : Hematology Lab Results : (03-04-2013) Parameters Hemoglobin (HGB) Eritrosit (RBC) Leukosit (WBC) Hematokrit Trombosit MCV MCH MCHC RDW LED Diftel Neutrofil Limfosit Monosit 45,10% 38,60% 8,10% 37-80% 20-40% 2 - 8% Value 17,00 g % 6,86x106/mm3 15,11x103/mm3 51.50% 114x103/mm3 75,10 fL 24,80 pg 33,00 g % 16.10% 4 mm/jam Normal Value 11.3-14.1 g % 4.40-4.48x106/mm3 4.5-13.5x103/mm3 37-41% 217-497x103/mm3 81-95 fL 25-29 pg 29-31 g % 11.6-14.8 % <15 mm/jam

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Eosinofil Basofil Neutrofil Absolut Limfosit Absolut Monosit Absolut Eosinofil Absolut Basofil Absolut

7,90% 0.300% 6,80x103/L 5,84x103/L 1,23x103/L 1,19x103/L 0,05x103/L

1-6% 0 - 1% 2.4-7.3x103/L 1.7-5.1x103/L 0.2-0.6x103/L 0.10-0.30x103/L 0-0.1x103/L

Morfology: - Eritrosit: Hipokrom Mikrositik - Leukosit: Jumlah meningkat bentuk normal - Trombosit: Clumping (+) Kesan: Leukositosis + Trombositopenia

Blood Gas Analysis Test PH pCO2 pO2 Bicarbonate (HCO3) Total CO2 BE Saturation O2 Glucose Metabolism Blood Glucose ( sewaktu) Renal Ureum Creatinin Uric acid Hepar Total Bilirubin 0,31 mg/dL < 1 mg/dL 13,40 mg/dL 0,29 mg/dL 7,0 mg/dL < 50 mg/dL 0.31-0.47 mg/dL < 7.0 mg/dL 111,80 mg/dl < 200 mg/dl 7,323 30,9 mmHg 114 mmHg 15,7 mmol/L 16,6 mmol/L -9,0 mmol/L 97,8% 7,35-7,45 38-42 mmHg 85-100 mmHg 22-26 mmol/L 19-25 mmol/L (-2) (+2) g/dL 95-100%

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Direct Bilirubin Fosfatase alkali (ALP) AST/SGOT ALT/SGPT

0,16 mg/dL 253 U/L 32 U/L 11 U/L

0-0.2 mg/dL < 269 U/L < 38 U/L < 41 U/L

A: - TOF P : Management April 2nd 2013 - April 3rd 2013 - O2 nasal canule L/i Diet MB 1050 kcal with 22 gr protein P : Management April 4th 2013 - O2 nasal canule L/i Diet MB 1050 kcal with 22 gr protein Consultation: Gimul, dengan diagnosa karies R/ Kateterisasi

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April 5th 2013 - April 7th 2013 S: Dyspnea (-), Cyanotic (-) O: Sens: CM, Temp: 37oC. Anemic (-), Icteric (-), Dyspnea (-), Edema (-), Cyanosis (-). Body weight: 11 kg, BW/BL: -2 sd until -1 sd, BW/age: -3 sd until -2 sd, BL/age: < -3 sd Head Light reflex (+/+), Isochoric pupil. paleness inferior palpebra conjunctiva (-/-). Ear/Mouth/Nose: within normal limit. Thorax Symmetrical fusiformis. Chest retraction (+) epigastrial. HR: 120x/i, reguler, murmur (+) systolic grd III/6 LMCS ICR III-IV. RR: 29x/i, reguler. Crackles (-/-). Abdomen Soepel. Peristaltic (+) normal. Liver/Spleen/Renal: undeterminate. Extremities Upper extremities: Pulse 120x/i, regular, adequate pressure and volume, warm acral, CRT < 3. Lower extremities: oedem (-/-). Genital Male, normal in appearance. Laboratory Findings : EKG Results (05/04/2013): Right Axis Defiation Bone Age Results (06/04/2013): Umur tulang sesuai dengan 2 tahun

A: - TOF + Moderate Malnutrisi P : Management April 5th 2013 - O2 nasal canule L/i Diet M II 750 kcal + 24 gr protein + Pediasure 3x150 cc R/ EKG, Bone Age

Management April 6th 2013 - April 7th 2013 - O2 nasal canule L/i Diet M II 750 kcal + 24 gr protein + Pediasure 3x150 cc

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April 8th 2013 S: Dyspnea (+), Cyanotic (-) O: Sens: CM, Temp: 37oC. Anemic (-), Icteric (-), Dyspnea (-), Edema (-), Cyanosis (-). Body weight: 11 kg, BW/BL: -2 sd until -1 sd, BW/age: -3 sd until -2 sd, BL/age: < -3 sd Head Light reflex (+/+), Isochoric pupil. paleness inferior palpebra conjunctiva (-/-). Ear/Mouth/Nose: within normal limit. Thorax Symmetrical fusiformis. Chest retraction (+) epigastrial. HR: 88x/i, reguler, murmur (+) systolic grd III/6 LMCS ICR III-IV. RR: 30x/i, reguler. Crackles (-/-). Abdomen Soepel. Peristaltic (+) normal. Liver/Spleen/Renal: undeterminate. Extremities Upper extremities: Pulse 88x/i, regular, adequate pressure and volume, warm acral, CRT < 3. Lower extremities: oedem (-/-). Genital Male, normal in appearance. Laboratory Findings : Hematology Lab Results : (08-04-2013) Parameters Hemoglobin (HGB) Eritrosit (RBC) Leukosit (WBC) Hematokrit Trombosit MCV MCH MCHC RDW LED Diftel Neutrofil Limfosit Monosit 67,60% 23,60% 6,80% 37-80% 20-40% 2 - 8% Value 17,50 g % 7,08x106/mm3 14,95x103/mm3 52,50% 128x103/mm3 75,20 fL 24,70 pg 33,30 g % 17,70% 3 mm/jam Normal Value 11.3-14.1 g % 4.40-4.48x106/mm3 4.5-13.5x103/mm3 37-41% 217-497x103/mm3 81-95 fL 25-29 pg 29-31 g % 11.6-14.8 % <15 mm/jam

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Eosinofil Basofil Neutrofil Absolut Limfosit Absolut Monosit Absolut Eosinofil Absolut Basofil Absolut Morfology: - Eritrosit: Anisositosis - Leukosit: normal - Trombosit: normal Kesan: Leukositosis + Trombositopenia Hemostasis (08/04/2013):

1,70% 0.300% 10,09x103/L 3,53x103/L 1,02x103/L 0,26x103/L 0,05x103/L

1-6% 0 - 1% 2.4-7.3x103/L 1.7-5.1x103/L 0.2-0.6x103/L 0.10-0.30x103/L 0-0.1x103/L

Bleeding Time/PT/APTT/TT: 3/14,9/37,4/15,8

A: - TOF + Moderate Malnutrisi P : Management April 8th 2013 - O2 nasal canule L/i Diet M II 750 kcal + 24 gr protein + Pediasure 3x150 cc R/ menunggu perbaikan KU untuk kateterisasi

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April 9th 2013 S: Dyspnea (+), Cyanotic (-) O: Sens: CM, Temp: 36,8oC. Anemic (-), Icteric (-), Dyspnea (-), Edema (-), Cyanosis (-). Body weight: 11 kg, BW/BL: -2 sd until -1 sd, BW/age: -3 sd until -2 sd, BL/age: < -3 sd Head Light reflex (+/+), Isochoric pupil. paleness inferior palpebra conjunctiva (-/-). Ear/Mouth/Nose: within normal limit. Thorax Symmetrical fusiformis. Chest retraction (+) epigastrial. HR: 90x/i, reguler, murmur (+) systolic grd III/6 LMCS ICR III-IV. RR: 32x/i, reguler. Crackles (-/-). Abdomen Soepel. Peristaltic (+) normal. Liver/Spleen/Renal: undeterminate. Extremities Upper extremities: Pulse 90x/i, regular, adequate pressure and volume, warm acral, CRT < 3. Lower extremities: oedem (-/-). Genital Male, normal in appearance. Catheterization Results: - Tetralogy of Fallot Severe in fundibular PS LPA 9,2 mm; RPA 12,7 mm Nakata Index: 368

A: - TOF + Moderate Malnutrisi P : Management April 9th 2013 - O2 nasal canule -1 L/i Diet M II 750 kcal + 24 gr protein + Pediasure 3x150 cc

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April 9th 2013 S: Dyspnea (+), Cyanotic (-) O: Sens: CM, Temp: 37oC. Anemic (-), Icteric (-), Dyspnea (-), Edema (-), Cyanosis (-). Body weight: 11 kg, BW/BL: -2 sd until -1 sd, BW/age: -3 sd until -2 sd, BL/age: < -3 sd Head Light reflex (+/+), Isochoric pupil. paleness inferior palpebra conjunctiva (-/-). Ear/Mouth/Nose: within normal limit. Thorax Symmetrical fusiformis. Chest retraction (+) epigastrial. HR: 90x/i, reguler, murmur (+) systolic grd III/6 LMCS ICR III-IV. RR: 22x/i, reguler. Crackles (-/-). Abdomen Soepel. Peristaltic (+) normal. Liver/Spleen/Renal: undeterminate. Extremities Upper extremities: Pulse 90x/i, regular, adequate pressure and volume, warm acral, CRT < 3. Lower extremities: oedem (-/-). Genital Male, normal in appearance.

A: - TOF + Moderate Malnutrisi P : Management April 9th 2013 - O2 nasal canule -1 L/i Diet M II 750 kcal + 24 gr protein + Pediasure 3x150 cc R/ PBJ

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CHAPTER 4 DISCUSSION AND SUMMARY

4.1.Discussion MF, a 4 years 4 months old boys, with body weight of 11 kg, and body length of 90 cm, was admitted to the Pediatric Non Infection Unit of Haji Adam Malik General Hospital on March 26th 2013 ,with chief complain of dyspnea. The dyspnea started since 2 years ago. And worsen while playing and walking. Cyanotic (+), patient experienced since the age of 2 years, cyanotic lips, clubbing finger both fingers and toes (+) . Cough (+) 3 days ago, nonproductive cough. History of recurrent fever (+) from patients aged 2 years. Currently fever (-) a history of seizures (+) at the age of 3 months to 1 year of age. Current seizures (-). Red skin spots (+) since 3 days. There are some involved in diagnozing TOF, among them is anamnesis, Physical Diagnostic, Chest X-ray, ECG and Echocardiography as the gold standars in diagnosing TOF, This patient already got all of these procedurs. At patients with TOF, exertional dyspnea usually worsen with age and activity, older children with TOF, increase pulmonary blood flow is to squat. In this case dyspnea was present since 2 years old, progressive by increasing age and worsen while walking and playing. Cyanotic experienced since patient was 2 years old, cyanotic develop on lips and on the nail bed of both fingers and toes. It support the theory, at birth some infants with tetralogy of Fallot do not show signs of cyanotic, but they may later develop episodes of bluish pale skin during crying or feeding (tet spells). This is most commonly seen on the lips or nail bed. Patients auscultation examination experienced murmur, as the clinical manifestasion of TOF patients, we can hear the heart murmur thats infacted by the right ventricular outflow obstruction. Patients will have a normal S1 and possibly a single S2. Electrocardiography of this patient, showed right axis deviation and right ventricle hypertrophy, and from the chest x-ray we found a boot-shaped appearence that pictured a ventricular hypertrophy. Gold standard to diagnose TOF is echocardiography. Echocardiography at this patient proved he is experiencing TOF, it pictured ventricular septal defect, overriding aorta, pulmonal stenosis and right ventricular hypertrophy. Rash and increased red blood cell are signs of polycitemia. Policytemia is one of tetralogy of Fallot complication.

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4.2 Summary A case was reported about a 4 years 4 months old girls with 11 kg of body weight and 90 cm of body length. Who was admitted in peadiatrics non infection ward in RSUP Adam Malik on 26th March 2013 with the diagnose of Tetralogy of Fallot. The patient was diagnosed based on history taking, physical examination, Chest X-ray and Echocardigraphy.