Tetralogy of Fallot (TOF) is a congenital heart defect tract and can occur at the pulmonary valve

which is classically understood to involve four anatomical (valvular stenosis) or just below the
abnormalities (although only three of them are always pulmonary valve (infundibular stenosis).
present). It is the most common cyanotic heart defect, and Infundibular pulmonic stenosis is mostly
the most common cause of blue baby syndrome. [1] caused by overgrowth of the heart muscle wall
(hypertrophy of the septoparietal trabeculae),
[3]
It was described in 1672 by Niels Stensen, in 1773 by however the events leading to the formation
Edward Sandifort, and in 1888 by the French physician of the overriding aorta are also believed to be
Étienne-Louis Arthur Fallot, for whom it is named.[2] a cause. The pulmonic stenosis is the major
stenosis
cause of the malformations, with the other
Anatomic morphology associated malformations acting as
compensatory mechanisms to the pulmonic
stenosis.[4] The degree of stenosis varies
[edit] Primary four malformations between individuals with TOF, and is the
primary determinant of symptoms and
"Tetralogy" denotes a four-part phenomenon in various severity. This malformation is infrequently
fields, including literature, and the four parts the syndrome's described as sub-pulmonary stenosis or
name implies are its four signs. This is not to be confused subpulmonary obstruction.[5]
with the similarly named teratology, a field of medicine An aortic valve with biventricular connection,
concerned with abnormal development and congenital that is, it is situated above the ventricular
malformations, which thereby includes tetralogy of Fallot as septal defect and connected to both the right
part of its subject matter. and the left ventricle. The degree to which the
aorta is attached to the right ventricle is
As such, by definition, tetralogy of Fallot involves exactly referred to as its degree of "override." The
four heart malformations which present together: B: Overriding
aortic root can be displaced toward the front
aorta
(anteriorly) or directly above the septal defect,
but it is always abnormally located to the right
of the root of the pulmonary artery. The
degree of override is quite variable, with 5-
95% of the valve being connected to the right
ventricle.[3]
A hole between the two bottom chambers
(ventricles) of the heart. The defect is centered
around the most superior aspect of the
C: ventricular
ventricular septum (the outlet septum), and in
septal defect
the majority of cases is single and large. In
(VSD)
some cases thickening of the septum (septal
hypertrophy) can narrow the margins of the
defect.[3]
The right ventricle is more muscular than
normal, causing a characteristic boot-shaped
(coeur-en-sabot) appearance as seen by chest
Tetralogy of Fallot X-ray. Due to the misarrangement of the
D: Right
external ventricular septum, the right
ventricular
ventricular wall increases in size to deal with
hypertrophy
the increased obstruction to the right outflow
tract. This feature is now generally agreed to
be a secondary anomaly, as the level of
hypertrophy generally increases with age.[6]

There is anatomic variation between the hearts of

individuals with tetralogy of Fallot. Primarily, the degree of
right ventricular outflow tract obstruction varies between
patients and generally determines clinical symptoms and
disease progression.

[edit] Additional anomalies

In addition, tetralogy of Fallot may present with other

anatomical anomalies, including:

Normal heart 1. stenosis of the left pulmonary artery, in 40% of

Condition Description patients
A: Pulmonary A narrowing of the right ventricular outflow 2. a bicuspid pulmonary valve, in 40% of patients
 3. right-sided aortic arch, in 25% of patients Children with tetralogy of Fallot may develop "tet spells".
4. coronary artery anomalies, in 10% of patients The precise mechanism of these episodes is in doubt, but
presumably results from a transient increase in resistance to
5. a foramen ovale or atrial septal defect, in which
blood flow to the lungs with increased preferential flow of
case the syndrome is sometimes called a pentalogy
desaturated blood to the body. Tet spells are characterized
of Fallot[7]
by a sudden, marked increase in cyanosis followed by
6. an atrioventricular septal defect syncope, and may result in hypoxic brain injury and death.
7. partially or totally anomalous pulmonary venous Older children will often squat during a tet spell, which
return increases systemic vascular resistance and allows for a
8. forked ribs and scoliosis temporary reversal of the shunt.

Tetralogy of Fallot with pulmonary atresia [edit] Diagnosis

(pseudotruncus arteriosus) is a severe variant[8] in which
there is complete obstruction (atresia) of the right The abnormal "coeur-en-sabot" (boot-like) appearance of a
ventricular outflow tract, causing an absence of the heart with tetralogy of Fallot is easily visible via chest x-ray,
pulmonary trunk during embryonic development. In these and before more sophisticated techniques became available,
individuals, blood shunts completely from the right ventricle this was the definitive method of diagnosis. Congenital heart
to the left where it is pumped only through the aorta. The defects are now diagnosed with echocardiography, which is
lungs are perfused via extensive collaterals from the quick, involves no radiation, is very specific, and can be
systemic arteries, and sometimes also via the ductus done prenatally.
arteriosus.
[edit] Treatment
[edit] Epidemiology and etiology
[edit] Emergency management of tet spells
Tetralogy of Fallot occurs in approximately 400 per million
live births.[9]
Prior to corrective surgery, children with tetralogy of Fallot
may be prone to consequential acute hypoxia (tet spells),
Its cause is thought to be due to environmental or genetic characterized by sudden cyanosis and syncope. These may
factors or a combination. It is associated with chromosome be treated with beta-blockers such as propranolol, but acute
22 deletions and diGeorge syndrome. episodes may require rapid intervention with morphine to
reduce ventilatory drive and a vasopressor such as
Specific genetic associations include: epinephrine, phenylephrine, or norepinephrine to increase
blood pressure. Oxygen is effective in treating spells
 JAG1[10] because it is a potent pulmonary vasodilator and systemic
 NKX2-5[11] vasoconstrictor. This allows more blood flow to the lungs.
 ZFPM2[12] There are also simple procedures such as squatting and the
knee chest position which increases aortic wave reflection,
 VEGF[13]
increasing pressure on the left side of the heart, decreasing
the right to left shunt thus decreasing the amount of
It occurs slightly more often in males than in females. deoxygenated blood entering the systemic circulation.[15]

Embryology studies show that it is a result of anterior [edit] Palliative surgery

malalignment of the aorticopulmonary septum, resulting in
the clinical combination of a VSD, pulmonary stenosis, and
The condition was initially thought untreatable until surgeon
an overriding aorta. Right ventricular hypertrophy results
Alfred Blalock, cardiologist Helen B. Taussig, and lab
from this combination, which causes resistance to blood
assistant Vivien Thomas at Johns Hopkins University
flow from the right ventricle.
developed a palliative surgical procedure, which involved
forming an anastomosis between the subclavian artery and
[edit] Pathophysiology and symptoms the pulmonary artery (See movie "Something the Lord
Made").[16] It was actually Helen Taussig who convinced
Tetralogy of Fallot results in low oxygenation of blood due Alfred Blalock that the shunt was going to work. This
to the mixing of oxygenated and deoxygenated blood in the redirected a large portion of the partially oxygenated blood
left ventricle via the VSD and preferential flow of the mixed leaving the heart for the body into the lungs, increasing flow
blood from both ventricles through the aorta because of the through the pulmonary circuit, and greatly relieving
obstruction to flow through the pulmonary valve. This is symptoms in patients. The first Blalock-Thomas-Taussig
known as a right-to-left shunt. The primary symptom is low shunt surgery was performed on 15-month old Eileen Saxon
blood oxygen saturation with or without cyanosis from birth on November 29, 1944 with dramatic results.
or developing in the first year of life. If the baby is not
cyanotic then it is sometimes referred to as a "pink tet".[14] The Potts shunt[17] and the Waterston-Cooley shunt[18][19] are
Other symptoms include a heart murmur which may range other shunt procedures which were developed for the same
from almost imperceptible to very loud, difficulty in purpose. These are no longer used.
feeding, failure to gain weight, retarded growth and physical
development, dyspnea on exertion, clubbing of the fingers
Currently, Blalock-Thomas-Taussig shunts are not normally
and toes, and polycythemia.
performed on infants with TOF except for severe variants
such as TOF with pulmonary atresia (pseudotruncus
arteriosus).

[edit] Total surgical repair

The Blalock-Thomas-Taussig procedure, initially the only

surgical treatment available for Tetralogy of Fallot, was
palliative but not curative. The first total repair of Tetralogy
of Fallot was done by a team led by C. Walton Lillehei at
the University of Minnesota in 1954 on a 11-year-old boy.[20]
Successful total repair on infants has had success from 1981,
with research indicating that it has a comparatively low
mortality rate. [21]

Total repair of Tetralogy of Fallot initially carried a high

mortality risk. This risk has gone down steadily over the
years. Surgery is now often carried out in infants one year of
age or younger with less than 5% perioperative mortality.
The open-heart surgery is designed (1) to relieve the right
ventricular outflow tract stenosis by careful resection of
muscle and (2) to repair the VSD with a Gore-Tex patch or a
homograft. Additional reparative or reconstructive surgery
may be done on patients as required by their particular
cardiac anatomy.

[edit] Prognosis

Untreated, tetralogy of Fallot rapidly results in progressive

right ventricular hypertrophy due to the increased resistance
on the right ventricle. This progresses to heart failure
(dilated cardiomyopathy) which begins in the right heart and
often leads to left heart failure. Actuarial survival for
untreated tetralogy of Fallot is approximately 75% after the
first year of life, 60% by four years, 30% by ten years, and
5% by forty years.

Patients who have undergone total surgical repair of

tetralogy of Fallot have improved hemodynamics and often
have good to excellent cardiac function after the operation
with some to no exercise intolerance (New York Heart
Association Class I-II). Surgical success and long-term
outcome greatly depends on the particular anatomy of the
patient and the surgeon's skill and experience with this type
of repair.

Ninety percent of patients with total repair as infants

develop a progressively leaky pulmonary valve as the heart
grows to its adult size but the valve does not. Patients also
often have damage to the electrical system of the heart from
surgical incisions, causing abnormalities as detected by
EKG and/or arrhythmias.

Long-term follow up studies show that patients with total

repair of TOF are at risk for sudden cardiac death and for
heart failure. Therefore, lifetime follow-up care by an adult
congenital cardiologist is recommended to monitor these
risks and to recommend treatment, such as interventional
procedures or re-operation, if it becomes necessary.

The use of antibiotics is no longer required by cardiologists

and varies from case to case.