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What is aortopathy?

Aortopathy simply means any disease of the aorta, the main artery in the body, which includes aortic enlargement, aortic aneurysms and aortic dissection. Disease of the aorta within the chest is called thoracic aortic disease.

There are two main types or aortopathy:

What are the symptoms of aortopathy?

Often enlargement of the aorta is not associated with any symptoms, so patients may not even be aware that they have a heart problem. Sometimes the following symptoms might be experienced with aortic dissection or a tear in the lining of the aorta:

How is aortopathy diagnosed?

If a family member has aortopathy, then close family members may be screened by DNA testing to see if they carry the predisposing gene. Aortopathy can then be diagnosed early in those that are thought to be at risk, by having yearly ultrasound pictures taken of the heart with an echocardiogram, or MRI scan or CT scan.

In those who have no family members with the condition, diagnosis can often be by chance when the patient is being screened for other health issues. Other times there may be physical signs and symptoms that make diagnosis easier. The doctor will look at family history, carry out a physical examination and will perform a DNA screening test called an aortic disease panel if aortopathy is suspected.

What causes aortopathy?

20% of cases are due to inherited genes. There are over 50 genes that are known to predispose people to aortic aneurysms. The genes cause proteins that make up the aortic wall to be produced in smaller numbers, which weakens the wall and leads to tearing and expansion of the artery.

Certain conditions that predispose people to aortopathy include:

Risk factors include:

Can aortopathy be prevented?

There is preventative medication that can help to prevent aortic enlargement in people who are at risk, like those who carry a gene that predisposes them to the condition or who have a family member with the condition. Regular ECG’s, blood pressure monitoring and MRI and CT scans should be carried out.

Lifestyle factors can also help towards prevention, such as:

How is aortopathy treated?

There is no cure at present for aortopathy, but the condition can be treated with thoracic aortic surgery to prolong the person's life. Surgery has a 97-99% success rate and often extends the person’s lifespan by 20 to 25 years.

There are two main types of surgery:

Yearly scans of the aorta will be recommended after the surgery.