2009-2010

Department of Pediatrics
Prof. Mona El-Samahy unit Under supervision of: Prof. Mahmoud Tarek Dr. Ahmed Samir Prepared by the fifth year medical students: Karim Mohammed Karim Nagy Karim Yousry Kawthar Sayed Kyrillos Girgis Kyrillos Raafat Kyrillos Samir Lara Ashraf Lobna Abd El-Fatah Lobna Ez El-Din

TETRALOGY OF FALLOT

In The name of The Holy GOD Presentation
After we finished we realized how great we enrich our experience!!! .The experience of achieving an interesting research in a well managed cooperative teamwork. We tried as much as we can to put this research in semi-arranged notes. We know! …….this research isn’t perfect, but it is our first little step in a very long way….and what we are proud of is that we have done our best and we were interested…… Now..!! It’s time for the show…So let’s go…Thanks...!!!

The teamwork, Cairo, Dec, 2009

December 6, 2009

[TETRALOGY OF FALLOT]

Index
Introduction ………………………………………………………………………….... 2 Historical origin& Definition ………………………………………..................................... 3 Epidemiology& Etiology& Embryological background…………………………..…..4

Pathophysiology ……………………………………………………………………... 5-6

Clinical picture ………………………………………………………………………... 7-9

Investigations ………………………………………………………………………... 9-11

Complications ………………………………………………………….……………. 11-12

Medical treatment of fallot tetralogy ………………………………...…………. 12

Surgical treatment of TOF ………………………………………………………….. 13-16

References …………………………………………………………………………….. 17
[Department of pediatrics] | Prof. Mona El-Samahy unit 1

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[TETRALOGY OF FALLOT]

Fallot Tetralogy
Introduction :
*Congenital cardiac defects can be divided into two major groups based on the presence or absence of cyanosis into:

Congenital acyanotic heart disease
Normal Pulmonary BF(no shunt) Rt ventricular enlargement  PS  MS Lt ventricular enlargement  AS  Coarcotation of Aorta --------------Pulmonary Plethora (Lt Rt ventricular enlargement  ASD  PAPVR Lt ventricular enlargement  PDA  A-P window Biventricular enlargement  VSD Rt shunt)

Congenital cyanotic heart disease
Pulmonary oligaemia         Rt ventricular enlargement Fallot tetralogy VSD + PS VSD + P.atresia (extreme F4) DORV + PS TGA + PS Lt ventricular enlargement Pulmonary atresia Tricuspid atresia Huge Rt arium Ebstein anomaly    Pulmonary plethora Rt ventricular enlargement Hypoplastic left heart syndrome TGA TAPVR

 

Rt/Lt ventricular enlargement or both Truncus arteriosus Single ventricle ---------------

Classification:
**the fallot tetralogy is one of cyanotic congenital heart lesions with decreased pulmonary blood flow.

[Department of pediatrics] | Prof. Mona El-Samahy unit

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[TETRALOGY OF FALLOT]

Historical origin: (6)
Tetralogy of Fallot (TOF) is a congenital heart defect which is classically understood to involve four anatomical abnormalities (although only three of them are always present). It is the most common cyanotic heart defect, representing 55-70%, and the most common cause of blue baby syndrome. It was described in 1672 by Niels Stensen, in 1773 by Edward Sandifort, and in 1888 by the French physician Etienne-Louis Arthur Fallot, for whom it is named.

Definition:(6)
Tetralogy of Fallot (TOF) is a congenital cyanotic heart disease, which is classically understood to involve four anatomical abnormalities Its four signs are : 1) Ventricular septal defect (figure 1) 2) Pulmonary stenosis , Sometimes the pulmonary valve isn’t just narrowed but is completely obstructed (pulmonary atresia). 3) Overriding aorta , the aorta lies directly over the ventricular septal defect . 4) Right ventricle develops hypertrophy .

Dr. Fallot

Figure 1 : ventricular septal defect

*In addition, tetralogy of Fallot may present with other anatomical anomalies, including: - stenosis of the left pulmonary artery, in 40% of patients - a bicuspid pulmonary valve, in 40% of patients - right-sided aortic arch, in 25% of patients - coronary artery anomalies, in 10% of patients - a foramen ovale or atrial septal defect, in which case the syndrome is sometimes called a pentalogy of Fallot, - an atrioventricular septal defect partially or totally anomalous pulmonary venous return forked ribs and scoliosis - triology of fallot

[Department of pediatrics] | Prof. Mona El-Samahy unit

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[TETRALOGY OF FALLOT]

Epidemiology:(6)
Tetralogy of Fallot occurs in approximately 400 per million live births Tetralogy of Fallot accounts for 10-15% of all congenital (newborn) heart defects It is the most common cyanotic heart defect, representing 55-70%, It occurs slightly more often in males than in females.

Etiology:(6)(7)
*Its cause is thought to be due to environmental as carbon monoxide or genetic factors or a combination. *It is associated with chromosome 22 deletions. *mothers who experience rubella or other viral illnesses during pregnancy have a higher risk of having a baby with tetralogy of fallot, in addition maternal alcoholism and diabetes. *There is higher risk for tetralogy of fallot among white babies than babies of other races *it may be seen more commonly in patients with Down syndrome (in association with AV canal defects) , DiGeorge syndrome , Alagille syndrome , charge syndrome ,vacteral syndrome , fetal alcohol syndrome .

Embryological background :(1)(figue 2)
Tetralogy of Fallot, the most frequently occurring abnormality of the conotruncal region (Figure. 3), is due to an unequal division of the conus resulting from anterior displacement of the conotruncal septum. Displacement of the septum produces the four cardiovascular abnormalities mentioned before .

Figure 2 :Embryology of TOF

Figure 3 : unequal division of the conus

[Department of pediatrics] | Prof. Mona El-Samahy unit

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December 6, 2009

[TETRALOGY OF FALLOT]

Trilogy of Fallot: (6)
presented by: Pulmonary valve stenosis Right ventricular hypertrophy Atrial septal defect

Pentalogy of fallot: (8)
Presented by: The four characteristics of Fallot's tetralogy syndrome, plus a patent foramen

Pathophysiology:
The combination of congenital defects in TOF results in right to left shunt across the large VSD from the hypertrophied right ventricle to the overriding aorta due to obstructed right ventricle outflow tract mixing of oxygenated and deoxygenated blood in left ventricle causing persistent arterial desaturation and cyanosis(5)(figure 4) . The degree of right ventricular outflow obstruction determines the timing of the onset of symptoms, the severity of cyanosis, and the degree of right ventricular hypertrophy(2). So Fallot is described in three types depending on the severity or extent of the anatomical defects(5): 1. Extreme Fallot: F4 + sever pulmonary (atresia or absent). 2. Classic Fallot: F4 + pulmonary stenosis. 3. Pink (acyanotic) Fallot: F4 + mild pulmonary stenosis.

Figure 4: Pathophysiology of TOF

[Department of pediatrics] | Prof. Mona El-Samahy unit

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December 6, 2009

[TETRALOGY OF FALLOT]

Figure 5 : Blood flow in normal heart and heart with tetralogy of Fallot

[Department of pediatrics] | Prof. Mona El-Samahy unit

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December 6, 2009

[TETRALOGY OF FALLOT]

Clinical picture:
A. Symptoms:
1.

Cyanosis:(5)  Onset of cyanosis usually observed weeks after delivery when the ductus begins to close as PDA in the early postnatal life redirect a large portion of partially oxygenated blood leaving the heart for the body to the lungs increasing flow through the pulmonary circulation with relatively better oxygenation.  Or sever cyanosis at birth in infant with TOF associated with pulmonary atresia. Paroxysmal hypercyanotic attacks (hypoxic, “blue,” or “tet” spells)(2)(3)(figure 6): are particular problems during the 1st 2 yr of life, with a peak incidence between 2 and 4 months of age. Hypoxic spells are characterized by a paroxysm of hyperpnoea (i.e., rapid and deep respiration), irritability and prolonged crying, chest infection, increasing cyanosis, and decreasing intensity of the heart murmur as flow across the right ventricular outflow tract diminishes. These spells usually occur in the morning after crying, feeding, or defecation. The onset is usually spontaneous and unpredictable. The spells may last from a few minutes to a few hours but are rarely fatal. A severe spell Figure 6 : hypoxic spells may lead to limpness, convulsion, cerebrovascular accident, and may progress to unconsciousness and, occasionally, to hemiparesis. Infants who are only mildly cyanotic at rest are often more prone to the development of hypoxic spells because they have not acquired the homeostatic mechanisms to tolerate rapid lowering of arterial oxygen saturation, such as polycythemia.

2.

3.

4. 5. 6.

7.

Dyspnea occurs on exertion(2). Characteristically, children assume a squatting position for the relief of dyspnea caused by physical effort; the child is usually able to resume physical activity within a few minutes. These findings occur most often in patients with significant cyanosis at rest. Low birth weight.(5) Poor feeding, breathlessness and agitation.(5) Growth and development may be delayed in patients with severe untreated tetralogy of Fallot, particularly when oxygen saturation is chronically <70%. Puberty may also be delayed in patients who do not undergo surgery.(2) TB infection due to decrease pulmonary blood flow.

[Department of pediatrics] | Prof. Mona El-Samahy unit

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[TETRALOGY OF FALLOT]

B. Signs:
-Delayed central cyanosis. It is most prominent in the mucous membranes of the lips and mouth and in the fingernails and toenails. neonatal cyanosis is noted immediately in severe degrees of pulmonary stenosis. older children with long standing cyanosis who have not undergone surgery may have dusky blue skin, grey sclera with engorged blood vessels and marked clubbing of fingers and toes.(2)(figure 7)

Figure 7 : cyanotic signs

Infants with acyanotic Tetralogy of Fallot may be asymptomatic or may show signs of CHF from a large right-to-left ventricular shunt.(3) -Children assume a squatting position for the relief of dyspnea caused by physical effort; the child is usually able to resume physical activity within a few minutes.(2) Squatting increases the pressure transiently in the aorta and left ventricle, causing less blood to move into the left ventricle, more out the pulmonary artery to the lungs.(9) -The pulse is usually normal, as is venous and arterial pressure. -By inspection:  The apex is shifted outwards and diffuse in extent.  The left anterior hemithorax may bulge anteriorly because of right ventricular hypertrophy.  There are parasternal pulsations. - Palpation reveals:  Right ventricular predominance.  In about half the cases, a systolic thrill is felt along the left sternal border in the 3rd and 4th parasternal spaces.  A left parasternal heave can be detected.  A thrill may be felt in the pulmonary area.  No special character and no thrills are felt on the apex. -On percussion: Increased area of cardiac dullness on both sides of the chest. -On auscultation:  The first heart sound (S1) is normal.  The second heart sound (S2) is single.

[Department of pediatrics] | Prof. Mona El-Samahy unit

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A systolic murmur is usually loud (grade 3 to 5/6) and harsh; it may be transmitted widely, especially to the lungs, but is most intense at the left sternal border. The murmur is generally ejection in quality. It may be preceded by a click. It is caused by turbulence through the right ventricular outflow tract. (2)

The more severe the obstruction of the right ventricular outflow tract, the shorter and softer the systolic murmur. In a deeply cyanotic neonate with Tetralogy of fallot with pulmonary atresia, heart murmur is either absent or very soft, although a continuous murmur representing PDA may be occasionally audible.(3)

Investigations:
Chest Radiography: (figure 8)
There is a normal-sized boot-shaped heart (coeur en sabot) with prominence of the right ventricle, elevation of the apex and a concavity in the region of the underdeveloped right ventricular outflow tract and main pulmonary artery. The pulmonary vascular markings are typically diminished.(4)

Figure 8: coeur en sabot

[Department of pediatrics] | Prof. Mona El-Samahy unit

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[TETRALOGY OF FALLOT]

Electrocardiogram (ECG):

Figure 10 : tall-peaked-bifid
P wave

peaked bifid

Figure 9 : ECG of right ventricular hypertrophy ECG demonstrates right axis deviation and evidence of right ventricular hypertrophy. Note the tall R waves in the right precordium and deep S waves in V6.The positive T waves in V4R and V1are also characteristic of right ventricular hypertrophy. (figure 9) P wave is tall and peaked or sometimes bifid .(figure 10)

Echocardiography: (figure 11)
- echocardiography establishes the diagnosis and provides information about the extent of aortic override of the septum, the location and degree of the right ventricular outflow tract obstruction, the associated ventricular septal defect, the size of the proximaI branch pulmonary arteries, and the side of the aortic arch. The Echocardiogram is also useful in determining whether a PDA is supplying a portion of the pulmonary blood flow. (2)

Cardiac catheterization:

Figure 11: TOF echo

a catheter is inserted through the skin into a blood vessel (usually in the groin) and advanced up the inferior vena cava into the heart. An x-ray image is taken while a small amount of dye is infused. The dye helps highlight the ventricular septal defect, pulmonary stenosis, overriding aorta, and the size of the pulmonary arteries.(9)

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Lab tests:
Polycythemia as the body attempts to compensate for the lack of oxygen to the tissues.

MRI:
The goals of MRI after tetralogy of Fallot repair include the quantitative assessment of left and particularly right ventricular volumes, stroke volumes and ejection fraction; imaging of the anatomy of the right ventricular outflow tract, the pulmonary arteries, the aorta and aortopulmonary collaterals; and quantifying pulmonary, aortic, and tricuspid regurgitation. (4)

Complications:(2)(9)
 Bacterial endocarditis may occur in the right ventricular infundibulum or on the pulmonic, aortic, or, rarely, tricuspid valves. Endocarditis may complicate palliative shunts or, in patients with corrective surgery, any residual pulmonic stenosis or VSD. Arrythmia: junctional tachycardia Heart block:postoperative due to right bundle branch block after right venriculotomy Pulmonary valve regurge with right ventricular enlargement[postoperative] Cerebral thrombosis, usually occurring in the cerebral veins or dural sinuses and occasionally in the cerebral arteries, are common in the presence of extreme polycythemia and dehydration. Thromboses occur most often in patients younger than 2 yr. These patients may have iron deficiency anemia, frequently with hemoglobin and hematocrit levels in the normal range (but too low for cyanotic heart disease). Brain abscess is less common than cerebral vascular events and extremely rare when most patients are repaired at young ages. Patients with a brain abscess are usually older than 2 yr. The onset of the illness is often insidious and consists of low-grade fever or a gradual change in behavior, or both. Some patients have an acute onset of symptoms that may develop after a recent history of headache, nausea, and vomiting. Seizures may occur; localized neurologic signs depend on the site and size of the abscess and the presence of increased intracranial pressure. Heart failure is not a usual feature in patients with the tetralogy of Fallot. It may occur in a young infant with “pink” or acyanotic tetralogy of Fallot. As the degree of pulmonary obstruction worsens with age, the symptoms of heart failure resolve and eventually the patient experiences cyanosis, often by 6–12 mo of age.

 

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[TETRALOGY OF FALLOT]

 

Delayed growth and development Death due to: 1. Prolonged, severe hypoxia which may lead to shock,respiratory failure and acidosis 2. Arrythmia 3. Heart failure

Medical treatment of fallot tetralogy:

(2)(10)(11)(12)

Once tetralogy of Fallot is diagnosed, the immediate management focuses on determining whether the child's oxygen levels are in a safe range. 1. prostaglandin E1: dose: (0.01–0.20 μg/kg/min] route:iv infusion mechanism : (a potent and specific relaxant of ductal smooth muscle is usually initiated to keep the ductus arteriosus open which will provide additional pulmonary blood flow and increase the child's oxygen level. This is continued through the preoperative period and during cardiac catheterization. 2. Treatment of arrythemia[junctional tachycardia] by temporary pacemaker and , prophylactic antiarrhythmic therapy 3. Heart block treated by placement of a permanently implanted pacemaker 4. Treatment of cyanotic spells:  Put the patient in squatting position  Oxygen for correction of anoxia  NAHCO3(1-2meq/kg)  Inderal iv [0.1-0.2mg /kg]to relax infandibualr spasm  Morphione[0.2mg/kg]in resistant cases  . Oral propranolol (0.5–1 mg/kg every 6 hr) 5. iron therapy : decrease frequency of Paroxysmal dyspneic attacks and increases RBCs count so it improve exercise tolerance and general well-being 6. prophylaxis against bacterial endocarditis: Antibiotic prophylaxis is essential before and after dental and certain surgical procedures associated with a high incidence of bacteremia. .
7. 8. 9.

Prevention or treatment of dehydration is important to avoid hemoconcentration and possible thrombotic episodes. Treatment of heart failure : digoxin and diuretics Lifestyle and home remedies:(13)    give baby smaller more frequent meals Remain calm if your baby has a cyanotic spell. This will reduce your child's anxiety Good oral hygiene

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[TETRALOGY OF FALLOT]

Exercising and play:after surgery patient may participate in normal activities and avoid competitive sports

Surgical treatment of TOF:(2)(14)(15)
Treatment of the tetralogy of fallot depends on the severity of the right ventricular outflow tract obstruction. Infants with sever tetralogy requiremedical treatment and surgical intervention in the neonatal period. Therapy is aimed at providing an immediate increase in pulmonary blood flow to prevent the sequalae of severe hypoxia. Prolonged, sever hypoxia may lead to shock, respiratory failure and 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 glocuse level should be monitored because hypoglycemia is more likely to develop in infants with cyanotic heart diseases. Infants with symptoms and sever cyanosis in the 1st month of life have marked obstruction of the right ventricular outflow tract or pulmonary atresia.

Two options are available: 1- Palliative systemic to pulmonary artery shunt:
Aim: to augment pulmonary artery blood flow, to: A) decease the amount of hypoxia B) improve linear growth C) Augment growth of the branch pulmonary arteries
.

Indications Shunt procedures are performed to increase PBF. Indications for shunt procedures vary from institution to institution. Many institutions, however, prefer primary repair without a shunt operation regardless of the patient's age. However, when the following situations are present, a shunt operation may usually be chosen rather than primary repair. 1. 2. 3. 4. 5. 6. Neonates with TOF and pulmonary atresia Infants with hypoplastic pulmonary annulus, which requires a transannular patch for complete repair Children with hypoplastic PAs Unfavorable coronary artery anatomy Infants younger than 3 to 4 months old who have medically unmanageable hypoxic spells Infants weighing less than 2.5 kg

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Technique: Although several other procedures were performed in the past (see Fig. 14-22 ), a modified Blalock-Taussig (Gore-Tex interposition) shunt is the only popular procedure performed at this time. Occasionally, a classic Blalock-Taussig shunt is performed. 1. Classic Blalock-Taussig shunt, anastomosed between the subclavian artery and the ipsilateral PA, is usually performed for infants older than 3 months (see Fig. 1422 ) because the shunt is often thrombosed in younger infants with smaller arteries. A right-sided shunt is performed in patients with left aortic arch; a leftsided shunt is performed for right aortic arch. Modified Blalock-Taussig (BT) shunt. A Gore-Tex interposition shunt is placed between the subclavian artery and the ipsilateral PA. This is the most popular procedure for any age, especially for small infants younger than 3 months of age (see Fig. 14-22 ). A left-sided shunt is preferred for patients with a left aortic arch, whereas a right-sided shunt is preferred for patients with a right aortic arch. The surgical mortality rate is 1% or less. The Waterston shunt, anastomosed between the ascending aorta and the right PA, is no longer performed because of a high incidence of surgical complications (see Fig. 14-22 ). Complications resulting from this procedure included too large a shunt leading to CHF or pulmonary hypertension, of both, and narrowing and kinking of the right PA at the site of the anastomosis. This created difficult problems in closing the shunt and reconstructing the right PA at the time of corrective surgery. The Potts operation, anastomosed between the descending aorta and the left PA, is no longer performed either (see Fig. 14-22 ). It may result in heart failure or pulmonary hypertension, as in the Waterston operation. A separate incision (i.e., left thoracotomy) is required to close the shunt during corrective surgery, which is performed through a midsternal incision.

2.

3.

4.

[Department of pediatrics] | Prof. Mona El-Samahy unit

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[TETRALOGY OF FALLOT]

Complications: 1) Chylothorax: treated by repeated thoracocentesis or reoperation the ligate the thoracic duct. 2) Diaphragmatic paralysis: requires prolonged ventilator support and vigorous physical therapy, until the function of the phrenic nerve returns in 1 to 2 months( unless it's completely devided ) 3) Horner syndrome: usually temporary and doesn't require treatment. Successful shunt procedure will result in disappearance of the cyanosis. The development of a continuous murmur over the lung fields after the operation indicates a functioning anastomosis. A good continuous shunt murmur may not be heard until several days after surgery. The duration of symptomatic relief is variable. As the child grows, more pulmonary blood flow is needed and the shunt eventually becomes inadequate. When increasing cyanosis develops, a corrective operation should be performed if the anatomy is favorable. If not possible (because of hypoplastic branch pulmonary arteries) or if the 1st shunt lasts only a brief period in a small infant, a second aortopulmonary anastomosis may be required on the opposite side.

2- Corrective surgical therapy ( complete intracardiac repair) :
a) Ventricular hypertrophy: Removing obstructive muscle bunbles in the right ventricle to relief the right ventricular outflow tract obstruction. b) Patch closure of the VSD c) Pulmonary stenosis: Vulvotomy if the pulmonary valve is stenotic. Vulvectomy if the pulmonary valve annulus is extremely thickened. (figure 12: Complete surgical correction for tetralogy of Fallot. Sketch of corrective surgery for tetralogy of Fallot. Diagram shows closing of ventricular septal defect and widening of right ventricular outflow tract with patching of infundibular tract (gray).) NB: Any previously established shunt MUST be ligated and divided before full repair.

Figure 12

[Department of pediatrics] | Prof. Mona El-Samahy unit

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[TETRALOGY OF FALLOT]

Prognosis: After successful total correction, patients are generally asymptomatic and are able to lead unrestricted lives.
Immediate post operative complications:

1) 2) 3) 4) 5)

right ventricular failure: treated by diuretics and positive inoropic agent transient heart block residual VSD with left to right shunting myocardial infarction from interruptionof an aberrant coronary artery. Pulmonary incompetence: if severe, it requires reoperation.

[Department of pediatrics] | Prof. Mona El-Samahy unit

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[TETRALOGY OF FALLOT]

References
Textbook:
1) Medical Embryology 9 edition page 250
th

2) Nelson Textbook of Pediatrics,18 ed, chapter 430 ( Cyanotic congenital heart lesions: Lesions Associated with decreased pulmonary blood flow, tetralogy of fallot) 3) Tetralogy of Fallot.Park textbook: Pediatric Cardiology for Practitioners, Elsevier ,5th ed.

4) Zipes:Tetralogy of Fallot. Braunwald's Heart Disease: A Textbook of Cardiovascular
Medicine, Elsevier,7th ed.

5) Fundamentals of pediatrics, Third edition 2008 ,Faculty of medicine, Ain Shams
university.

6) www.wikipedia.com 7) www.nlm.nih.gov/medlineplus/ency/article/001567.htm 8) www.whonamedit.com/synd.cfm/2280.html 9) www.emedicine.com 10) www.pubmed.gov.com 11) www.mayoclinic.com 12) www.medlineplus.com 13) www.american heart .com 14) www.ajronline.org/cgi/content-nw/full/189/6/1353/FIG24 15) www.pediatriconcall.com/FORDOCTOR/Diseasesand

[Department of pediatrics] | Prof. Mona El-Samahy unit

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‫9002 ,6 ‪December‬‬

‫]‪[TETRALOGY OF FALLOT‬‬

‫‪Teamwork‬‬
‫كرين هحود حٌفي هحود (897)‬ ‫كرين ًاجي هحود عبد الحلين (108)‬ ‫كرين يضرى هجلي كيرلش (208)‬ ‫كوثر صيد هعوض عبد الحويد (308)‬ ‫كيرلش جرجش تقاوى قلدس (408)‬ ‫كيرلش رأفت عصام القوص صوعاى فيلبش (508)‬ ‫كيرلش صوير هٌرى صادق (608)‬ ‫الرا أشرف جالل اصواعيل (808)‬ ‫لبٌي عبد الفتاح هحود حضي (118)‬

‫لبٌي عز الديي هحود فودة (218)‬

‫‪[Department of pediatrics] | Prof. Mona El-Samahy unit‬‬

‫81‬

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