Cardiology Patient Page

Tetralogy of Fallot
Patricia OBrien, MSN, CPNP-AC; Audrey C. Marshall, MD

ongenital heart defects result from

abnormal changes in the structure
of the heart that occur early in pregnancy and are present at birth. They are
the most common birth defects, occurring in about 1 in 125 births. Tetralogy
of Fallot (TOF) is a common defect in
which obstruction to the flow of blood
from the heart to the lungs causes low
oxygen levels in the blood. Open heart
surgery to correct the heart defect is
the only treatment that gives long-term
survival.

What Is TOF?
TOF is a defect combining 4 abnormalities that are all related (Figure):
1. Right ventricular outflow tract
obstruction. The connection
between the right ventricle of the
heart and the lungs is narrowed,
and the blood flow to the lungs
is reduced. The main area of narrowing is under the pulmonary
valve, caused by thick muscle in
this area. The valve may also be
narrow (stenotic), and the pulmonary artery may also be small
(hypoplastic).

2. Ventricular septal defect. There

is a hole in the wall (septum)
between the right and left ventricles (pumping chambers) of the
heart.
3. Overriding of the aorta. The
major blood vessel from the heart
to the body, the aorta, is positioned more rightward than normal and sits above the ventricular
septal defect.
4. Hypertrophy of the right ventricle. The right ventricle is more
muscular than normal as a result
of the right ventricular outflow
tract obstruction and the need to
pump harder.
TOF can be seen with other heart
defects, but this Cardiology Patient
Page focuses on the most common
form, TOF with pulmonary stenosis.
TOF occurs equally in boys and girls
and in all races and ethnic groups. It is
associated with several genetic conditions, including trisomy 21 (Down
syndrome), and with deletions on
chromosome 22 and may occur with
other birth defects such as cleft lip and
palate. If a parent or sibling has TOF,
other children in the family also have

a higher-than-average chance of having

this heart defect.

How Is TOF Diagnosed?

Many newborns with TOF will have
lower measured oxygen levels than
normal or may have visibly blue lips
or nail beds (called cyanosis). It is
now recommended that newborns get
screened for heart disease by having their oxygen levels measured by
a machine called a pulse oximeter
before going home. A heart murmur
(abnormal heart sounds caused by turbulent blood flow) may be heard with
a stethoscope. An echocardiogram, an
ultrasound that gives detailed images
of the heart, is necessary to confirm
the diagnosis. Today, many infants
are diagnosed with a heart defect
before birth by an ultrasound during
pregnancy.
Symptoms vary, depending on the
severity of obstruction to blood flow
to the lungs. Some infants appear
blue soon after birth because of
severe obstruction, whereas others
with less obstruction are a normal
pink color. The obstruction generally
gets worse over time, so blue lips may

The information contained in this Circulation Cardiology Patient Page is not a substitute for medical advice, and the American Heart Association
recommends consultation with your doctor or healthcare professional.
From the Department of Nursing/Patient Services, Cardiovascular Program, Boston Childrens Hospital, Boston, MA (P.O.); and Department of Pediatrics,
Harvard Medical School, and Cardiac Catheterization Laboratory, Department of Cardiology, Boston Childrens Hospital, Boston, MA (A.C.M.).
Correspondence to Patricia OBrien, MSN, CPNP-AC, Department of Nursing/Patient Services, Cardiovascular Program, Boston Childrens Hospital.
E-mail pat.obrien@cardio.chboston.org
(Circulation. 2014;130:e26-e29.)
2014 American Heart Association, Inc.
Circulation is available at http://circ.ahajournals.org

DOI: 10.1161/CIRCULATIONAHA.113.005547

e26

OBrien and Marshall Tetralogy of Fallot e27

Figure. Diagram of normal heart contrasted with heart defects associated with Tetralogy of Fallot. From Boston Childrens Hospital Web site.

first appear at several months of age.

Some infants with mild obstruction
may never be blue (pink Tets) and
may have signs of too much blood
flow to the lungs (rapid breathing,
poor feeding, and slow weight gain),
much like an infant with only a ventricular septal defect.
Most newborns with TOF are well,
with normal breathing and feeding,
and can be discharged home with

surgery planned several months later.

Premature infants or newborns with
other major medical problems that
put them at higher risk may do better
avoiding a full repair and instead having a temporary procedure if they have
severe obstruction (Table 1).

Hypercyanotic Spells
Infants with TOF may have hypercyanotic spells (Tet spells), episodes in

which they become intensely blue with

deeper and faster breathing. Most common between 2 and 4 months of age,
spells occur more often in the morning
with crying, feeding, or stooling or at
times of stress, or they can be triggered
by dehydration. Treatment includes
calming the baby and holding the baby
in a position with knees up touching
the chest. This changes the blood flow
pattern in the heart and may relieve the

Table 1. Treatments for Tetralogy of Fallot With Pulmonary Stenosis

Age

Characteristics

Treatments

Newborn

Severe cyanosis in newborns at higher risk for

complete repair:
premature infants, infants with other birth
defects, very ill infants

TEMPORARY PROCEDURES:
SURGERY: Shunt procedure: Gore-Tex tube from an artery off the
aorta to the pulmonary artery to provide blood flow to the lungs
CATHETERIZATION: dilation of the pulmonary valve

36 mo

Open heart surgery, heart-lung bypass

SURGERY: complete repair:

1. Close the VSD with a patch so that the aorta comes from the
left ventricle
2. Remove extra-thick muscle in the right ventricle below the
valve
3. Repair narrow pulmonary valve
a.Valve-sparing technique for mild obstruction:
pulmonary valve is dilated
b.Transannular patch for severe obstruction:
larger patch going across the pulmonary valve extending from the right ventricle to the pulmonary artery that
destroys the pulmonary valve
4. Patch the right ventricle to relieve obstruction
In 5% of patients, an abnormal coronary artery (supplies blood to
heart muscle) crosses the area where the patch would go. In that
case, repair is done with a conduit (tube) from right ventricle to
main pulmonary artery

Type of surgical repair depends on childs

anatomy

Adolescents and adults

Progressive leaking of the pulmonary valve and

dilation of the right ventricle
Narrow pulmonary valve or pulmonary artery

SURGERY: pulmonary valve replacement with tissue valve

CATHETERIZATION: balloon dilate pulmonary valve or pulmonary artery

e28CirculationJuly 22, 2014

spell. If there is no improvement in a

few minutes, call 9-1-1. Rarely, spells
can cause babies to pass out or to have
a seizure or a stroke. If a spell occurs,
surgery is performed soon to prevent
further spells.

Surgical Treatment
Most infants have a surgical repair at
3 to 6 months of age. Surgery is done
through an incision in the center of the
chest along the sternum (breastbone),
and the heart-lung bypass machine is
used to support the circulation during
the operation (Table1). Infants are usually in the hospital for about a week and
fully recover in 4 to 6 weeks. Surgical
results are excellent, with a less than
2% surgical mortality and very good
long-term outcomes.
After surgery, infants are in the
intensive care unit for several days, are
on a ventilator to help them breathe,
and receive medicines to help the heart
recover from surgery. A problem seen
early after surgery can be fluid overload in the lungs and body because the
right ventricle is not pumping effectively as it recovers. Medicines called
diuretics are used to help get rid of
extra fluid. Problems with abnormal
heartbeats (rhythm problems) may also
occur after surgery because of swelling
or injury to the electric system of the
heart, which runs next to the ventricular septal defect. Rarely, a pacemaker
may be needed if the rhythm does not
return to normal.

Long-Term Concerns
During childhood, most children do
very well, with normal growth and
development, but need regular cardiology care (Table2). However, even
successful surgery does not result in
a totally normal heart. The right ventricular outflow tract often has some
degree of obstruction, and the pulmonary valve does not function normally.
As a result of most surgical repairs, the
valve leaflets cannot close completely,
allowing blood to leak back into the
right ventricle (called pulmonary
regurgitation).

Table 2. Future Care

Few children have symptoms, and most may participate in normal activities without restriction
Medical care involves regular (yearly) evaluations by the cardiologist with electrocardiograms and
echocardiograms to monitor for cardiac concerns that may occur late after repair
Continued or progressive obstruction in the right ventricle
Continued or progressive obstruction across the pulmonary arteries
Leaking (regurgitation) of the pulmonary valve
Increasing dilation of the right ventricle and decreased ventricle function
Dilation of the aorta (rarely needs treatment)
Rhythm problems
Ventricular tachycardia: dangerous fast rhythm
Abnormal slow rhythms: need for pacemaker
Heart-healthy lifestyle is encouraged
Healthy diet and appropriate weight for age
Regular exercise
No smoking
Regular dental care is necessary
Higher incidence of learning and behavioral problems is observed
Attention deficithyperactivity disorder, learning disabilities, speech delays, etc
Early assessment and treatment
Adolescents are prepared to become more responsible for their own health care
Learn more about tetralogy of Fallot and long-term issues
Assume more responsibility for care over time
Most will achieve normal adult lifestyle (eg, work full-time, have children)

Pulmonary regurgitation is well

tolerated in children, but over many
years, the right ventricle may dilate
and stretch in some patients. The right
ventricle may pump less effectively,
which increases the risk of rhythm
problems and may decrease exercise
ability. Early signs of trouble from
pulmonary regurgitation are seen on
echocardiograms and are further evaluated with magnetic resonance imaging. Magnetic resonance imaging is an
imaging study done inside a magnet
that allows very detailed pictures and
measurements of the heart structures.
Surgical replacement of the pulmonary
valve with a tissue valve is considered
for patients with progressive right ventricular dilation. This is a low-risk open
heart procedure done on the heart-lung
bypass machine; the usual hospital stay
is less than a week; and recovery is in
6 to 8 weeks.
Abnormal rhythm problems, especially a very rapid heart rate called
ventricular tachycardia, which can be

life-threatening, can occur years after

TOF repair. More common in those
with significant obstruction in the right
ventricle, symptoms include dizziness,
fainting, or palpitations (irregular or
rapid heartbeat). Treatments may include
medications or further procedures.

Summary
TOF is a congenital heart defect that
results in decreased blood flow to the
lungs and is successfully repaired
by surgery in infancy, allowing most
patients a normal lifestyle. Lifelong
follow-up is important to watch for
problems such as an abnormal heart
rhythm, leaking of the pulmonary
valve, or poor function of the right
ventricle. Continued research leading
to new knowledge and treatments for
congenital heart disease will improve
the care of children in the future.

Disclosures
None.

OBrien and Marshall Tetralogy of Fallot e29

Additional Resources
Marino BS, Lipkin PH, Newburger JW, Peacock G,
Gerdes M, Gaynor JW, Mussatto KA, Uzark
K, Goldberg CS, Johnson WH, Li J, Smith SE,
Bellinger DC, Mahle WT. Neurodevelopmental
outcomes in children with congenital heart disease: evaluation and management: Scientific
Statement from the American Heart Association.
Circulation. 2012;126:11431172.

Sable C, Foster E, Uzark K, Bjornsen K, Canobbio

MM, Connolly HM, Graham TP, Gurvitz
MZ, Kovics A, Meadows AK, Reid GT, Reiss
JG, Rosenbaum KN, Sagerman PJ, Saidi A,
Schonberg R, Shah S, Tong E, Williams RG.
Best practices in managing transition to adulthood for adolescents with congenital heart
disease: the transition process and medical and
psychosocial issues: a Scientific Statement

from the American Heart Association.

Circulation. 2011;123:14541485.
Adult Congenital Heart Association Web site.
www.achaheart.org.
American Heart Association Web site. www.
heart.org.
Boston Childrens Hospital Web site. www.childrenshospital.org.