Heart Conditions in Children - Tetralogy of Fallot

Click Image to Enlarge

What is tetralogy of Fallot?
Tetralogy of Fallot (TOF or "TET") is a complex condition of several congenital (present at
birth) defects that occur due to abnormal development of the fetal heart during the first 8
weeks of pregnancy. These problems include the following:

ventricular septal defect (VSD) - an opening in the ventricular septum, or dividing

wall between the two lower chambers of the heart known as the right and left
ventricles.

pulmonary (or right ventricular outflow tract) obstruction - a muscular obstruction in

the right ventricle, just below the pulmonary valve, that decreases the normal flow of
blood. The pulmonary valve may also be small.

overriding aorta - the aorta is shifted towards the right side of the heart so that it sits
over the ventricular septal defect.

Click Image to Enlarge

"Tetralogy" refers to four heart problems. The fourth problem is that the right ventricle
becomes enlarged as it tries to pump blood past the obstruction into the pulmonary artery.

Normally, oxygen-poor (blue) blood returns to the right atrium from the body, travels to the
right ventricle, then is pumped through the pulmonary artery into the lungs where it receives
oxygen. Oxygen-rich (red) blood returns to the left atrium from the lungs, passes into the left
ventricle, and then is pumped through the aorta out to the body.
In tetralogy of Fallot, blood flow within the heart varies, and is largely dependent on the size
of the ventricular septal defect, and how severe the obstruction in the right ventricle is.

With mild right ventricle obstruction, the pressure in the right ventricle can be slightly
higher than the left. Some of the oxygen-poor (blue) blood in the right ventricle will
pass through the VSD to the left ventricle, mix with the oxygen-rich (red) blood there,
and then flow into the aorta. The rest of the oxygen-poor (blue) blood will go its
normal route to the lungs. These children may have slightly lower oxygen levels than
usual, but may not appear blue.

With more serious obstruction in the right ventricle, it is harder for oxygen-poor
(blue) blood to flow into the pulmonary artery, so more of it passes through the VSD
into the left ventricle, mixing with oxygen-rich (red) blood, and then moving on out to
the body. These children will have lower than normal oxygen levels in the
bloodstream, and may appear blue, especially whenever the pressure in the right
ventricle is very high and large amounts of oxygen-poor (blue) blood passes through
the VSD to the left side of the heart.

According to the National Heart, Lung, and Blood Institute (NHLBI), tetralogy of Fallot
affects about 5 of every 10,000 babies and occurs equally in boys and in girls.
What causes tetralogy of Fallot?
Some congenital heart defects may have a genetic link, either occurring due to a defect in a
gene, a chromosome abnormality, or environmental exposure, causing heart problems to
occur more often in certain families.
Maternal abuse of alcohol during pregnancy, leading to fetal alcohol syndrome (FAS), is
linked to tetralogy of Fallot. Mothers who take medications to control seizures and mothers
with phenylketonuria (PKU) are also more likely to have a baby with tetralogy of Fallot.
Most of the time, this heart defect occurs sporadically (by chance), with no clear reason
evident for its development.
Why is tetralogy of Fallot a concern?
The amount of oxygen-poor (blue) blood that passes through the VSD to the left side of the
heart varies. If the right ventricle obstruction is severe, or if the pressure in the lungs is high,
a large amount of oxygen-poor (blue) blood passes through the VSD, mixes with the oxygenrich (red) blood in the left ventricle, and is pumped to the body. The more blood that goes
through the VSD, the less blood that goes through the pulmonary artery to the lungs, and the
less oxygen-rich (red) blood that returns to the right side of the heart. Soon, nearly all the
blood in the left ventricle is oxygen-poor (blue). This is an emergency situation, as the body
will not have enough oxygen to meet its needs.

Some situations, such as crying, increase the pressure in the lungs temporarily, and increasing
blueness might be noted as a baby with tetralogy of Fallot cries. In other situations, the
pathway from the right ventricle to the pulmonary artery becomes tighter, preventing much
blood from passing that way, and allowing oxygen-poor (blue) blood to flow through the
VSD into the left heart circulation. Both of these situations are nicknamed "TET spells."
Sometimes, steps can be taken to lessen the pressure or the obstruction, and allow more blood
to flow into the lungs and less through the VSD. These steps, however, are not always
effective.
What are the symptoms of tetralogy of Fallot?
The following are the most common symptoms of tetralogy of Fallot. However, each child
may experience symptoms differently. Symptoms may include:

Because large amounts of oxygen-poor (blue) blood can flow to the body under
certain circumstances, one of the indications of tetralogy of Fallot is blueness (blue
color of the skin, lips, and nail beds) that occurs with such activity as crying or
feeding, and quickly becomes more obvious.

Some babies do not have noticeable cyanosis (blue color of the skin, lips, and nail
beds), but may instead be very irritable or lethargic due to a decreasing amount of
oxygen available in the bloodstream.

Some children become pale or ashen in color, and may have cool, clammy skin.

Any of these can be symptoms of tetralogy of Fallot. The symptoms of tetralogy of Fallot
may resemble other medical conditions or heart problems. Always consult your child's
physician for a diagnosis.
How is tetralogy of Fallot diagnosed?
Your child's physician may have heard a heart murmur during a physical examination, and
referred your child to a pediatric cardiologist for a diagnosis. A heart murmur is simply a
noise caused by the turbulence of blood flowing through the obstruction from the right
ventricle to the pulmonary artery. Symptoms your child exhibits will also help with the
diagnosis.
A pediatric cardiologist specializes in the diagnosis and medical management of congenital
heart defects, as well as heart problems that may develop later in childhood. The cardiologist
will perform a physical examination, listening to the heart and lungs, and make other
observations that help in the diagnosis. The location within the chest that the murmur is heard
best, as well as the loudness and quality of the murmur (harsh, blowing, etc.) will give the
cardiologist an initial idea of which heart problem your child may have. However, other tests
are needed to help with the diagnosis, and may include the following:

chest x-ray - a diagnostic test which uses invisible electromagnetic energy beams to
produce images of internal tissues, bones, and organs onto film.

electrocardiogram (ECG or EKG) - a test that records the electrical activity of the
heart, shows abnormal rhythms (arrhythmias or dysrhythmias), and detects heart
muscle stress.

echocardiogram (echo) - a procedure that evaluates the structure and function of the
heart by using sound waves recorded on an electronic sensor that produce a moving
picture of the heart and heart valves.

cardiac catheterization - a cardiac catheterization is an invasive procedure that gives

very detailed information about the structures inside the heart. Under sedation, a
small, thin, flexible tube (catheter) is inserted into a blood vessel in the groin, and
guided to the inside of the heart. Blood pressure and oxygen measurements are taken
in the four chambers of the heart, as well as the pulmonary artery and aorta. Contrast
dye is also injected to more clearly visualize the structures inside the heart.

Treatment for tetralogy of Fallot treated:

Specific treatment for tetralogy of Fallot will be determined by your child's physician based
on:

your child's age, overall health, and medical history

extent of the condition

your child's tolerance for specific medications, procedures, or therapies

expectations for the course of the condition

your opinion or preference

Tetralogy of Fallot is treated by surgical repair of the defects. A team of cardiac surgeons
performs the surgery, usually before an infant is 1 year old. In many cases, the repair is made
at around 6 months of age, or even a little earlier. Repairing the heart defects will allow
oxygen-poor (blue) blood to travel its normal route through the pulmonary artery to receive
oxygen.
The operation is performed under general anesthesia, and involves the following:

The ventricular septal defect is closed with a patch.

The obstructed pathway between the right ventricle and the pulmonary artery is
opened and enlarged with a patch. If the pulmonary valve is small, it may be opened
as well or removed.

Postoperative care for your child:

Children will spend time in the intensive care unit (ICU) after tetralogy of Fallot repair.
During the first several hours after surgery, your child will be very drowsy from the

anesthesia that was used during the operation, and from medications given to relax him/her
and to help with pain. As time goes by, your child will become more alert.
While your child is in the ICU, special equipment will be used to help him/her recover, and
may include the following:

ventilator - a machine that helps your child breathe while he/she is under anesthesia
during the operation. A small, plastic tube is guided into the windpipe and attached to
the ventilator, which breathes for your child while he/she is too sleepy to breathe
effectively on his/her own. After a truncus repair, children will benefit from remaining
on the ventilator overnight or even longer so they can rest.

intravenous (IV) catheters - small, plastic tubes inserted through the skin into blood
vessels to provide IV fluids and important medicines that help your child recover
from the operation.

arterial line - a specialized IV placed in the wrist or other area of the body where a
pulse can be felt, that measures blood pressure continuously during surgery and while
your child is in the ICU.

nasogastric (NG) tube - a small, flexible tube that keeps the stomach drained of acid
and gas bubbles that may build up during surgery.

urinary catheter - a small, flexible tube that allows urine to drain out of the bladder
and accurately measures how much urine the body makes, which helps determine how
well the heart is functioning. After surgery, the heart will be a little weaker than it was
before, and, therefore, the body may start to hold onto fluid, causing swelling and
puffiness. Diuretics may be given to help the kidneys to remove excess fluid from the
body.

chest tube - a drainage tube may be inserted to keep the chest free of blood that would
otherwise accumulate after the incision is closed. Bleeding may occur for several
hours, or even a few days after surgery.

heart monitor - a machine that constantly displays a picture of your child's heart
rhythm, and monitors heart rate, arterial blood pressure, and other values.

Your child may need other equipment not mentioned here to provide support while in the
ICU, or afterwards. The hospital staff will explain all of the necessary equipment to you.
Your child will be kept as comfortable as possible with several different medications; some
which relieve pain, and some which relieve anxiety. The staff will also be asking for your
input as to how best to soothe and comfort your child.
After discharged from the ICU, your child will recuperate on another hospital unit for a few
days before going home. You will learn how to care for your child at home before your child
is discharged. Your child may need to take medications for a while at home, and these will be
explained to you. The staff will give you instructions regarding medications, activity
limitations, and follow-up appointments before your child is discharged.

Caring for your child at home following tetralogy of Fallot repair:

Pain medications, such as acetaminophen or ibuprofen, may be recommended to keep your
child comfortable at home. Your child's physician will discuss pain control before your child
is discharged from the hospital.
After surgery, older children usually have a fair tolerance for activity. Your child may become
tired easily, and sleep more right after surgery, but, within a few weeks, your child should be
fully recovered.
Long-term outlook after tetralogy of Fallot surgical repair:
Most children who have had a tetralogy of Fallot surgical repair will live healthy lives.
Activity levels, appetite, and growth will eventually return to normal in most children. Your
child's cardiologist may recommend that antibiotics be given to prevent bacterial endocarditis
after discharge from the hospital.
After initial repair of tetralogy of Fallot, pulmonary valve replacement is often indicated in
the second or third decade of life to prevent complications such as enlargement of the right
ventricle, dysrhythmias, and heart failure. For women wishing to have children, preconception evaluation by echocardiogram and/or magnetic resonance imaging (MRI) is
recommended.
Consult your child's physicians regarding the specific outlook for your child.
MODUL 3
PENYAKIT JANTUNG BAWAAN
SISTEM KARDIOVASKULAR
Skenario
Seorang anak perempuan 10 tahun datang dengan keluhan : bibir dan kuku terlihat
kebiruan. Hal ini sudah dialami sejak masa bayi. Bila menangis atau bermain, anak terlihat
bertambah biru. Anak sering jongkok bila capek bermain. Pada pemeriksaan fisis didapatkan :
perawakan kecil dan kurus.Sianosis terlihat di bibir, ujung lidah, kuku jari tangan dan kaki.
Nadi dan tekanan darah normal. Pada pemeriksaan toraks :aktivitas
ventrikel kanan meningkat disertai thrill pada LSB 3. BJ : 1&2 murni, intensitas
mengeras. Terdengar bising ejeksi sistol derajat 3/6 p.m LSB 4. A.femoralis teraba normal.
Pada tangan dan kaki terdapat jari-jari tabuh,
Kata Sulit
Sianosis
diskolorasi kebiruan pada kulit dan membran mukosa akibat konsentrasi yang berlebihan
hemoglobin tereduksi dalam darah yang lebih dari 5 g%. (kamus kedokteran Dorland)
Thrill
sensasi getaran yang dirasakan oleh pemeriksa pada palpasi tubuh, seperti di atas jantung
selama murmur jantung besar dan kasar. (kamus kedokteran Dorland)
Bising ejeksi sistolik

tipe bising sistolik yang terutama terjadi pada midsistole, ketika volumeej ect ion dan
kecepatan aliran darah pada keadaan maksimum, seperti yang terdengar pada stenosis aorta
dan pulmonal; bising ini disebabkan oleh penyemburan darah ke dalam cabang aorta atau
arteri pulmonal, merupakan bentuk permata (diamond-shaped), dan berakhir sebelum bunyi
jantung kedua. (kamus kedokteran Dorland)
Jari tabuh
deformitas yang ditimbulkan karena proliferasi jaringan lunak sekitar falang terminal jari
tangan atau kaki, tanpa perubahan oseosa yang konstan. (kamus kedokteran Dorland)
Kata Kunci

Sianosis sejak bayi

Bising ejeksi sistole
Jari-jari tabuh
Aktivitas ventrikel kanan meningkat
Thrill pada LSB 3
Squatting
Pertanyaan
1.Jelaskan tentang sirkulasi fetal dan setelah lahir!
2. Bagaimana patomekanisme sianosis pada sist.kardiivaskuler & hubungannya dgn
skenario?
3. Bagaimana hubungan jongkok saat capek dengan skenario?
4. Mengapa aktivitas ventrikel kanan meningkat disertai thrill?
5. Bagaimana mekanisme terbentuknya jari-jari tabuh?
6. Bagaimana patomekanisme bising ejeksi sistole?
7. Mengapa pada kasus tersebut, perawakan anak kecil dan kurus?
8. Bagaimana differential diagnosis pada kasus?
9. Bagaimana pemeriksaan penunjang pada kasus?
10. Bagaimana penatalaksanaan kasus di atas?
11. Bagaimana prognosis dan komplikasi kasus?

Jawaban Pertanyaan:
1. Sirkulasi fetal dan setelah lahir

Pada fetus semua bahan makanan dan kebutuhan untuk hidup semuanya di peroleh dari ibu
melalui placenta, demikian juga dengan semua bahan yang tidak dibutuhkan lagi
dikembalikan ke placenta ibu kembalai. Darah yang bersal daru placenta mengandung O2
sekitar 60-70%, darah masuk melalui vena umbilikalis dan diteruskan ke duktus venosus
masuk kedalam hepar kemudian darah dari hepar ini masuk kedalam VCI terus ke dalam
atrium kanan saat di atruim kanan darah kaya O2 ini diteruskan ke dalam atrium kiri melalui
foramen ovale, selanjutnya ke dalam ventrikel kiri dan diteruskan ke aorta namun pada aorta
sebagian besar darah ini di gunakan untuk mensuplai pambuluh koroner, ekstremitas atas dan
kepala, serta sebagian kecilnnya lagi di teruskan keaorta desendens. Darah dari otak dan
ekstermitas atas ini dikembalikan ke VCS kemudian ke dalam atrium kanan dan diteruskan
lagi ke ventrikel kanan, karena tahanan paru-paru masih besar dan kapiler serta alveoli masih
menutup maka darah dari tyruncus pulmonalis tertahan dan sebagian besar di teruskan melaui
duktus arteriosus ke aorta desenden untuk bergabung dengan sisa darah dari ventrikel kiri
kemidian darah campuran ini deteruskan ke sistemik serta organ dalam bawah kemudian ke
VCI dan sebagian besarnya lagi di teruskan kedalam arteri umbilikalis dan keplacenta.
Begtulah siklus darai sistem sirkulasi fetus yang normal

Sesaat setelah lahir dan inspirasi pertamapun dimulai maka alveoli, kapiler paru mulai
terbuka serta konstriksi dari truncus pulmonalis menghilang maka paru-paru mulai berfungsi
untuk menukarkan gas dan tekanan dari atrium kanan mengecil disertai dengan di ikatnya
palcenta sehingga aliran darah palcenta tidak ada lagi, dan darh dari paru-paru langsung
masuk kedalam atrium kiri, krena tekanan di atrim kiri kini lebih besar daripada tekanan di
atrium kanan maka desakan pada sekat sehingga foramen ovale menutup dan drah
dilanjutkan lagi ke ventrikel kanan dan kemudian sistemik dan kembali ke dalam atrium kiri
karna palacenta telah diikat maka kadar prostaglandin dari placenta sidah tidak ada maka
duktus venosus dan duktus arteriosus secara anatomi dan fisiologi menutup dan berubah
menjadi ligamentum, dan terjadilah aliran drh normal orang dewasa.

8. Deferensial Diagnosis

Tetralogy of Fallot ( TOF)

Transposition of Great Arteri ( TGA )

Patens Ductus Arteriosus ( PDA )

Tetralogy of Fallot ( TOF)
(www.schneiderchildrenshospital.org)
Defenisi
Tetralogi Fallot adalah kelainan dalam bentuk penyakit jantung bawaaan sianotik
yang memungkinkan kehidupan sampai dewasa. Secara anatomik, tetralogi fallot merupakan
malformasi yang berupa gabungan dari Defek septum ventrikel (VSD), stenosis katup

9. pemeriksaan penunjang
Tetralogy of Fallot ( TOF)

Pemeriksaan Fisik
Anak tampak biru pada mukosa mulut dan kuku, kadang- kadang disertai jari tabuh.
Bunyi pertama biasanya normal, bunyi jantung kedua terpisah dengan komponen
pulmonal melemah. Terdengar bising sistolik ejeksi di sela iga II parasternal kiri.


Elektrokardiogram
Tampak deviasi aksis ke kanan dan hipertrofi ventrikel kanan. Kadang disertai hipertrofi
atrium kanan

Foto Toraks
Gambaran pembuluh darah paru berkurang (oligemia) dan konfigurasi jantung yang khas
yakni seperti sepatu boot (Boot shape)

Ekokardiogram
Tampak defek septum ventrikel jenis perimembranosus dengan overriding aorta kuran
lebih 50% dan penebalan infundibulum ventrikel kanan

Katerisasi Jantung dan Angiokardiogram

Pada tetralogy fallot, katerisasi jantung dilakukan terutama untuk menilai arteri
pulmonalis dengan cabang- cabangnya, anomaly arteri koroner baik asal maupun
jalannya dan defek septum ventrikel tambahan bila ada.
(Fakultas Kedokteran Universitas Indonesia. 1998. Buku Ajar Kardiologi. Jakarta: Gaya
Baru. )