What is tetralogy of Fallot?
Tetralogy of Fallot is a rare, complex congenital (present at birth) heart
defect. Named after the physician who first described this condition in 1888,
tetralogy of Fallot is the name for a cluster of four heart defects:

Large ventricular septal defect:
The ventricles are the heart’s two lower chambers, and the septum is the
wall that separates the left and right chambers. A ventricular septal defect is
a hole in the septum that allows oxygen-rich blood to flow from the left
ventricle back into the right ventricle and mix with the oxygen-poor blood
there, instead of flowing to the aorta and out to the rest of the body.
Alternatively, oxygen-poor blood can flow across the defect at times (right to
left) bypassing the lungs and leading to low oxygen levels in the bloodstream
(cyanosis).
Pulmonary stenosis:
Blood normally flows from the right ventricle through a valve into the
pulmonary artery in the lungs where it gets loaded with oxygen. Pulmonary
stenosis is a narrowing of that valve tissue. Often, the narrowing not only
involves the valve, but also the muscle directly below it. The constriction of
the passageway causes the heart to pump harder to push the blood through and
reduces the amount of blood flowing through the valve.
Right ventricular hypertrophy:
The extra pumping required by the pulmonary stenosis causes the right ventricle to thicken
(hypertrophy).
Overriding aorta:
The aorta is the main artery that carries oxygen-rich blood from the heart
to the rest of the body. Normally the aorta is connected to the left ventricle,
and oxygenated blood flows out of the ventricle into the aorta. In tetralogy of
Fallot, the aorta is positioned between the left and right ventricles, above the
ventricular septal defect. This location allows the aorta to receive blood from
both sides of the heart, so that oxygen-poor blood from the right ventricle
mixes with oxygenated blood from the left ventricle.
How common is tetralogy of Fallot and what causes it?
Tetralogy of Fallot is relatively rare, occurring in about 5 of every
10,000 births. Although this heart defect has been recognized for 120 years, the
exact cause is still unknown. The defect occurs during the heart’s development
before birth. About 15 percent of people with tetralogy of Fallot have a
specific genetic abnormality that is also linked with other birth defects such
as cleft palate.
How is tetralogy of Fallot diagnosed?
This complex set of defects means that the body is in an oxygen crisis.
Not enough blood can flow to the pulmonary artery to pick up oxygen, and blood
flowing through the aorta to the body is oxygen-poor. In most cases, the defect
is severe enough at birth that lack of oxygen causes a bluish tint (cyanosis) to
develop in a baby’s skin, lips and fingernails. Cyanosis usually gets
progressively worse over the first few weeks of life, and tetralogy of Fallot
usually is diagnosed quite early, although it can go undiagnosed for a few
months or even up to several years.
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