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The aorta is the main blood vessel
that carries blood from the heart to the rest of the body.
Like most arteries, the aorta is elastic
which allows it to be filled with blood under high pressure.
An aortic aneurysm is an enlargement or bulging of the aorta
in which the artery wall weakens and expands like a balloon.
There are two main types of aortic aneurysms,
thoracic aortic aneurysm
which affects the sections of the aorta in the chest
and abdominal aortic aneurysm
which affects the lower part of the aorta
which extends through the abdominal area.
If an aneurysm becomes too large, it may tear.
This is called a dissection.
An aortic dissection is extremely dangerous
and can cause life-threatening bleeding.
The most common symptom of a dissection
is sudden pain in the chest or back.
Aortic disease is a term used
for both aortic aneurysm and dissection.
The risks factors for thoracic aortic disease include age,
aneurysms are more common among older people,
male gender, high blood pressure, smoking, weight lifting,
atherosclerosis or hardening of the arteries,
certain illnesses and having a bicuspid aortic valve,
a heart defect in which the aortic valve
has two leaflets instead of three.
There may also be a genetic risk for aortic disease.
This means that the risk is inherited,
that it runs in the family.
One in five people who have thoracic aortic disease
have a family member who also has it.
Genes are the instruction code of our bodies.
Changes or mutations in this instruction code
increase the risk for disease.
More than 20 genes are known to be involved
in hereditary thoracic aortic diseases.
People who have certain genetic changes
have a higher risk for disease
regardless of other risk factors.
For instance, some people with genetic causes
for aortic disease have connective tissue diseases
such as Marfan Syndrome.
Connective tissue provides a framework
to support many parts of the body
including the skin, bones, eyes, and blood vessels.
People with hereditary connective tissue diseases
have weaker connective tissue.
Aortic disease can also be caused
by genes that make the smooth muscle of the blood vessels.
People who have aortic disease
from smooth muscle cell dysfunction
often do not have connective tissue features,
but they may be more likely to have been born
with a heart defect.
It's possible to have an enlarged aorta and not know it.
That's why it's important
for family members of someone who has aortic disease
to have their arteries examined with cardiovascular imaging
such as an echocardiogram or CT scan.
In addition, genetic testing can help identify people
who may be more likely to have aortic disease.
Genetic testing for individuals with aortic disease can
identify those who are at a higher risk for dissection.
Some people with hereditary aortic disease
are at higher risk for dissection,
a tear that develops in the inner layers
of the blood vessels at smaller sizes.
This is why surgery in people with hereditary aortic disease
is considered at a smaller size.
Genetic testing for individuals with aortic disease
can help determine the proper timing
for repair of an aneurysm.
People with hereditary aortic disease
usually needs surgery at an earlier stage
than people who don't have a genetic cause.
Genetic testing for individuals with aortic disease
can help identify risk for other aneurysms.
Some of the genetic causes of aortic aneurysms
also increase the risk for other aneurysms
including in the brain.
If such a gene mutation is found,
your healthcare providers can recommend screening
to determine if any further treatment is needed.
Genetic testing for individuals with aortic disease
can help other family members understand their genetic risk.
Family members who have a genetic test
learn if they have an increased risk to develop an aneurysm.
People who should consider genetic testing
include those who have had an aortic aneurysm
or dissection at a young age,
have had several aneurysms or dissections,
have two or more relatives
who have had an aneurysm or dissection at any age,
or are suspected of having a hereditary
connective tissue disorder.
How accurate is genetic testing for aortic disease?
We currently know about 30% of the genetic causes
of aortic disease.
More genetic causes will be found in the future.
Please be aware that a negative genetic test
does not mean that there is no genetic risk.
Even if genetic testing is normal now,
family members should all undergo imaging of their aortas.
If you have any questions, please ask your caregivers
and thank you for choosing Cleveland Clinic for your care.