Tetralogy of Fallot

What is tetralogy of Fallot?

Tetralogy of Fallot (TOF or "TET") is a condition of several related 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!
"lick #mage to Enlarge
Ventricular septal defect (VSD). $n 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 outflo tract) o!struction. $ muscular
obstruction in the right ventricle% &ust below the pulmonary valve% that decreases the
normal flow of blood The pulmonary valve may also be small
"verriding aorta. The aorta is shifted towards the right side of the heart so that it sits
over the ventricular septal defect
"Tetralogy" refers to ' heart problems The fourth problem is that the right ventricle becomes
thickened as it tries to pump blood past the obstruction into the pulmonary artery
"lick #mage to Enlarge
(ormally% o)ygen*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
o)ygen O)ygen*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
#n tetralogy of Fallot% the direction of blood flow within the heart varies% and is largely
dependent on the si+e of the ventricular septal defect% and how severe the obstruction in the
right ventricle is
,ith mild right ventricle obstruction% very little of the o)ygen*poor (blue) blood in
the right ventricle will pass through the -./ to the left ventricle% mi) with the
o)ygen*rich (red) blood there% and then flow into the aorta The ma&ority of the
o)ygen*poor (blue) blood will go by its normal route to the lungs These children may
have o)ygen levels that are only slightly lower than usual% and do not appear blue
,ith more serious obstruction in the right ventricle% it is harder for o)ygen*poor
(blue) blood to flow into the pulmonary artery% so more of it passes through the -./
into the left ventricle% mi)ing with o)ygen*rich (red) blood% and then moving on out to
the body These children will have lower than normal o)ygen levels in the
bloodstream% and may appear blue% especially whenever the pressure in the right
ventricle is very high and large amounts of o)ygen*poor (blue) blood passes through
the -./ to the left side of the heart
$ccording to the (ational 0eart% 1ung% and 2lood #nstitute% tetralogy of Fallot affects about 3
of every 45%555 babies and occurs e6ually in boys and in girls #t is one of the most common
congenital abnormalities of the heart that re6uires intervention in the first year of life
What causes tetralogy of Fallot?
.ome congenital heart defects may have a genetic link causing heart problems to occur more
often in certain families
7aternal abuse of alcohol during pregnancy% leading to fetal alcohol syndrome% is linked to
tetralogy of Fallot 7others who take medications to control sei+ures and mothers with
phenylketonuria are also more likely to have a baby with tetralogy of Fallot
Tetralogy of Fallot may also occur as part of a syndrome like /own syndrome or /i8eorge
syndrome
7ost of the time% this heart defect occurs by chance% with no clear reason for its development
Why is tetralogy of Fallot a concern?
The amount of o)ygen*poor (blue) blood that passes through the -./ to the left side of the
heart varies #f the right ventricle obstruction is severe% or if the pressure in the lungs is high%
a large amount of o)ygen*poor (blue) blood passes through the -./% mi)es with the o)ygen*
rich (red) blood in the left ventricle% and is pumped to the body The more blood that goes
through the -./% the less blood that goes through the pulmonary artery to the lungs% and the
less o)ygen*rich (red) blood that returns to the right side of the heart .oon% nearly all the
blood in the left ventricle is o)ygen*poor (blue) This is an emergency situation% as the body
will not have enough o)ygen to meet its needs
.ome 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 #n other situations% the
pathway from the right ventricle to the pulmonary artery becomes tighter% preventing much
blood from passing that way% and allowing o)ygen*poor (blue) blood to flow through the
-./ into the left heart circulation 2oth of these situations are nicknamed "TET spells"
.ometimes% steps can be taken to lessen the pressure or the obstruction% and allow more blood
to flow into the lungs and less through the -./ 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 0owever% each child
may e)perience symptoms differently
2ecause large amounts of o)ygen*poor (blue) blood can flow to the body under
certain circumstances% one of the symptoms of tetralogy of Fallot is blueness (blue
color of the skin% lips% and nail beds) that occurs with such activity as crying or
feeding
.ome babies do not have noticeable cyanosis (blue color of the skin% lips% and
nailbeds)% but may instead be very irritable or lethargic due to a reduced amount of
o)ygen in the bloodstream
.ome children become pale or ashen in color% and may have cool% clammy skin
$ny of these can be symptoms of tetralogy of Fallot The symptoms of tetralogy of Fallot
may resemble other medical conditions or heart problems $lways consult your child9s doctor
for a diagnosis
#o is tetralogy of Fallot diagnosed?
:our child9s doctor may have heard a heart murmur during a physical e)amination% and
referred your child to a pediatric cardiologist for a diagnosis #n this case% the heart murmur is
caused by the turbulence of blood flowing through the obstruction from the right ventricle to
the pulmonary artery .ymptoms your child e)hibits will also help with the diagnosis
$ pediatric cardiologist speciali+es 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 e)amination% 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 6uality of the murmur (such as% harsh or blowing) will give
the cardiologist an initial idea of which heart problem your child may have /iagnostic
testing for congenital heart disease varies by the child9s age% clinical condition% and
institutional preferences .ome tests that may be recommended include the following!
$hest %&ray. $ diagnostic test that uses ;*ray beams to produce images of internal
tissues% bones% and organs onto film
'lectrocardiogram ('$(). $ test that records the electrical activity of the heart%
shows abnormal rhythms (arrhythmias or dysrhythmias)% and detects heart muscle
stress
'chocardiogram (echo). $ procedure that evaluates the structure and function of the
heart by using sound waves recorded on an electronic sensor to produce a moving
picture of the heart and heart valves
$ardiac catheteri)ation. $ cardiac catheteri+ation is an invasive procedure that gives
very detailed information about the structures inside the heart <nder sedation% a
small% thin% fle)ible tube (catheter) is inserted into a blood vessel in the groin% and
guided to the inside of the heart 2lood pressure and o)ygen measurements are taken
in the four chambers of the heart% as well as the pulmonary artery and aorta "ontrast
dye is also in&ected to more clearly visuali+e the structures inside the heart
#o is tetralogy of Fallot treated?
.pecific treatment for tetralogy of Fallot will be determined by your child9s doctor based on!
:our child9s age% overall health% and medical history
E)tent of the condition
:our child9s tolerance for specific medications% procedures% or therapies
E)pectations for the course of the condition
:our opinion or preference
Tetralogy of Fallot is treated by surgical repair of the defects $ team of cardiac surgeons
does the surgery% usually before an infant is 4 year old #n many cases% the repair is made
around = months of age% or even a little earlier >epairing the heart defects will allow o)ygen*
poor (blue) blood to travel its normal route through the pulmonary artery to receive o)ygen
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 #f the pulmonary valve is small% it may be opened
as well
$are for your child in the hospital
"hildren will spend time in the intensive care unit (#"<) after tetralogy of Fallot repair
/uring 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 rela) him or her
and to help with pain $s time goes by% your child will become more alert
,hile your child is in the #"<% special e6uipment will be used to help him or her recover% and
may include the following!
Ventilator. $ machine that helps your child breathe while he or she is under
anesthesia during the operation $ small% plastic tube is guided into the windpipe and
attached to the ventilator% which breathes for your child while he or she is too sleepy
to breathe effectively on his or her own $fter a tetralogy of Fallot repair% children
will benefit from remaining on the ventilator for up to several days so they can rest
*ntravenous (*V) catheters. .mall% plastic tubes inserted through the skin into blood
vessels to provide #- fluids and important medicines that help your child recover
from the operation
+rterial line. $ speciali+ed #- 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 #"<
,asogastric (,() tu!e. $ small% fle)ible tube that keeps the stomach drained of acid
and gas bubbles that may build up during surgery
-rinary catheter. $ small% fle)ible 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 $fter surgery% the heart may be a little weaker than it was
before% and the body may start to hold onto fluid% causing swelling and puffiness
/iuretics may be given to help the kidneys remove e)cess fluid from the body
$hest tu!e. $ drainage tube may be inserted to keep the chest free of blood that
would otherwise accumulate after the incision is closed 2leeding may occur for
several hours% or even a few days after surgery
#eart monitor. $ machine that constantly displays a picture of your child9s heart
rhythm% and monitors heart rate% arterial blood pressure% and other values
:our child may need other e6uipment not mentioned here to provide support while in the
#"<% or afterwards The hospital staff will e)plain all of the necessary e6uipment to you
:our child will be kept as comfortable as possible with several different medications? some of
which relieve pain% and some of which relieve an)iety The staff will also be asking for your
input as to how best to soothe and comfort your child
$fter discharge from the #"<% your child will recuperate on another hospital unit for a few
days before going home :ou will learn how to care for your child at home before your child
is discharged :our child may need to take medications for a while at home% and these will be
e)plained to you The staff will give you instructions regarding medications% activity
limitations% and follow*up appointments before your child is discharged
$aring for your child at home
@ain medications% such as acetaminophen or ibuprofen% may be recommended to keep your
child comfortable at home :our child9s doctor will discuss pain control before your child is
discharged from the hospital
$fter surgery% older children usually have a fair tolerance for activity :our child may become
tired easily% and sleep more right after surgery% but% within a few weeks% your child should be
fully recovered
.ong&term outloo/
7ost children who have had a tetralogy of Fallot surgical repair will live healthy lives
$ctivity levels% appetite% and growth will return to normal in most children soon after
surgery :our child9s cardiologist may recommend that antibiotics be given to prevent
bacterial endocarditis after discharge from the hospital
$fter initial repair of tetralogy of Fallot% pulmonary valve replacement may be indicated in
the second or third decade of life to prevent complications% such as enlargement of the right
ventricle% abnormal heart rhythms% and heart failure For women wishing to have children%
preconception evaluation by echocardiogram andAor magnetic resonance imaging (7>#) is
recommended
"onsult your child9s doctors regarding the specific outlook for your child
http://www.stanfordchildrens.org/en/topic/default?id=tetralogy-of-fallot-90-
P01822
Tetralogy "f Fallot 0 Symptoms1 Diagnosis and Treatment
Tetralogy of Fallot is a comple) congenital heart disease% classified as a cynotic heart
condition% which associates four defects! ventricular septal defect% pulmonary artery stenosis
(right ventricular outflow tract obstruction)% right ventricular hypertrophy and aorta
de)troposition #f is present interatrial septal defect% then the disease is called pentand of
Fallot
Tetralogy of Fallot
2orphopathology3
Tetralogy of Fallot always associate stenosis of infundibular septum and the presence of
ventricular septal defect and the aorta de)troposition >ight ventricular hypertrophy occurs as
a result of ventricular overload @ulmonary artery stenosis is constantly present and
represents the central element of tetralogy of Fallot #t may be a pulmonary valve stenosis in
the right ventricular outflow tract or a hypoplasia of the pulmonary artery trunk "linical
picture of this defect is wide% from asymptomatic forms to e)treme form in which the
anatomical and functional communication between right ventricle and pulmonary artery is
absent (pulmonary atresia with tetralogy of Fallot)% with severe clinical e)pression 7ay be
associated with tetralogy of Fallot! right aortic arch% coronary anomalies% interatrial septal
defect
Pathophysiology of tetralogy of Fallot3
/ue to increased pressure in the right ventricle% which is hindered to e&ect blood into
pulmonary artery% will appear a right*left shunt through the ventricular septal defect that
causes cyanosis and clinical hypo)ic crisis .hunt si+e depends on the degree of infundibular
stenosis of the pulmonary artery% ventricular septal defect si+e and peripheral vascular
resistances 0ypo)ic crises% which represents a classic complication in tetralogy of Fallot% are
due to muscle spasm of the pulmonary artery which accentuates the degree of stenosis To
reduce the hypo)ic crises% children are adopting a s6uating position% which increases
peripheral vascular resistances by reducing venous return and thus% will reduce right*left
shunt
Tetralogy of Fallot
Symptoms of tetralogy of Fallot3
.ymptoms are different% depending on the severity of tetralogy of Fallot comple) .ome
forms of tetralogy of Fallot go unnoticed at birth and first months of life $ reduced
pulmonary artery obstruction and a small right*left shunt% is giving a form of disease% called
Bpink tetralogy of FallotC
#n more severe forms of Fallot tetraolgie occur!
Cyanosis
!ypo"ic crises
$%uating position to i&pro'e hypo"ia
!ippocratic (ngers
$hort stature and weight de(cit
)*ort intolerance
+yspnea
,atigue.
"linical e)amination can detect an increased ape)ian shock% regarding to right ventricular
hypertrophy% deep systolic murmur in the area of pulmonary artery
Diagnosis of tetralogy of Fallot3
The presence of intense cyanosis immediately after birth should lead to suspicion of a severe
form of tetralogy of Fallot "linical e)amination of an infant becoming cyanotic lately%
which is not developed a properly stature and weight and in whom cardiac auscultation
highlight a loud systolic murmur in the pulmonary artery% should be complemented by
laboratory investigations% particularly echocardiography% which will specify the correct
diagnosis
1. Laboratory test can re'eal a poliglo-ulia.
2. ECG . signs of right 'entricular hypertrophy/ inco&plete right -undle
-ranch -loc0 and arrhyth&ias.
1. Chest radiography . pul&onary circulation is poor so that lung areas are
hypertransparent and heart i&age is typical2shoe aspect3/ for right
'entricular hypertrophy.
4. Echocardiography . identify the characteristic features of tetralogy of
,allot/ the presence of 'entricular septal defect/ the direction of the shunt
in +oppler color &ethod/ aorta de"troposition / the degree of stenosis of
the pul&onary artery and right 'entricular hypertrophy. 5lso/ can -e
e"a&ined the 'al'ular apparatus and integrity of the interatrial septu&.
)sti&ation of pul&onary artery trun0 si6e is also possi-le and useful.
7. Magnetic Resonance Imaging . 8iew with accurate 'entricular septal
defect/ right 'entricular out9ow tract and pul&onary artery with its distal
-ranches.
:. Cardiac catheterization . is done only when is trying to see pul&onary
artery -ranches and coronary artery ano&alies. ;his e"ploration gi'es a
anato&ic and he&odyna&ic assess&ent of the heart and appreciate 'ery
speci(c the o"ygen saturation of the cardiac cha&-ers.
Tetralogy of Fallot
,atural evolution of tetralogy of Fallot3
,ithout an intensive and speciali+ed treatment newborns with severe forms of tetralogy of
Fallot die "lassical form of tetralogy of Fallot become symptomatic by the age of D*=
months% and progressively worsens 0ypo)ic crises can occur but are more common in
infants and characteristics by age of E years The main complications are neurological
in&uries% pulmonary or cerebral abscess% and endocarditis in older ages
Treatment of tetralogy of Fallot3
2edical F #t is in crises of hypo)ia% when the child is taking the s6uatting position%
administration of beta blockers (propranolol) and correction of acidosis @ropranolol is useful
as preventive treatment of hypo)ic crisis
Surgical F depending on the symptoms% newborn weight% the anatomically situation of the
defects can be done a palliative or corrective surgery (ewborns with weight under ' kg%
hypo)ic crises% symptoms% pulmonary circulation depending on patent ductus arteriosus% and
underdeveloped pulmonary artery can benefit in a first stage of palliative surgery% and =*4E
months after% a total correction
Fallot Tetralogy
Palliative surgery F "reating a systemic*pulmonary shunt% which is designed to increase
pulmonary blood flow% to relief symptoms% allowing development of lung vasculari+ation and
infants development up to the final intervention
*nterventional treatment F is trying to e)pand right ventricular e&ection way to relieve
symptoms $lso peripheral pulmonart artery stenosis can be dilated
Overall% perioperative mortality is less than 3G 1ong*term survival is good% 85G of patients
are asymptomatic after surgery and have 83G survival rate at D5 years after surgery #n
evolution may occur various cardiac arrhythmias and sudden cardiac death may occur in 4G
F DG of cases