Aortopathy

Aortopathy means any disease of the aorta, which is the main artery of the body. It supplies oxygenated blood to the circulatory system and passes over the heart from the left ventricle and runs down in front of the backbone.

Types of aortopathy disease

There are two main types of aortopathy disease. It can be thoracic aortic enlargement progressing to acute aortic dissection, which can be a life-threatening complication. The other type is thoracic aortic dissection in the absence of aortic enlargement. Aortic involvement can be part of a collection of physical signs and symptoms, which is known as a syndrome.

Clinical phenotypes - how a condition presents itself in a person - can vary and also overlap between disorders. An enlargement of the aorta isn't always associated with other symptoms. This means that patients are not always aware that they have a health issue.

Diagnosing aortopathy

A dilated aorta is normally diagnosed whilst a patient is being tested for something else. Tests may happen because someone has other symptoms that suggest an inherited heart problem. This could be something like a member of their family has a history of a ruptured aorta.

But diagnosing can be difficult because although most aortopathies are genetic, not all the responsible genes have been identified.

Echocardiogram (echo)

An echocardiogram, also known as an echo, is a test that uses sound waves to build up a moving picture of the heart.

Bentall procedure

A Bentall procedure is carried out during aortic surgery to replace the faulty parts of the aorta, such as the valve or the ascending aorta, with a graft.

Valve-sparing aortic root replacement

Valve-sparing aortic root replacement is a cardiac procedure to treat aneurysms and prevent aortic dissection.

Personalised external aortic root support (PEARS)

PEARS treats aortic dissection by using a custom-made external support which is made to exactly match the patient’s aorta.

Connective tissue

This is any type of biological tissue with an extensive extracellular matrix. This supports, binds together, and protects organs. It is mainly made of collagen and elastin.

Hereditary connective tissue disorders include diseases like Ehlers-Danlos syndrome and Marfan's syndrome. Connective tissue disease is any disease that has the connective tissues of the body as a target of pathology.

Conditions we treat

At the Trust, we treat many inherited cardiac conditions, such as:

Marfan syndrome (MFS)
Loeys-Dietz syndrome (LDS)
Ehlers-Danlos syndrome types I/II, IV, VI
Thoracic aortic aneurysm and dissections (familial)
Congenital contractural arachnodactyly
Arterial tortuosity syndrome
Homocystinuria due to cystathionine beta-synthase deficiency
Bicuspid Aortic Valve

Our clinics

Why have I been referred for this clinic?

If you have been referred to the Aortopathy/Connective Tissue Disease clinic at Royal Brompton Hospital, this could be because:

a family member has been diagnosed with an inherited heart condition
a family member has died suddenly from a suspected or confirmed heart condition that may be inherited
you have experienced symptoms that need further investigation.

However you may have been referred for another reason and this will be discussed with you.

The specialist aortopathy clinics we run diagnose, treat and follow up with patients who have aortic disease.

The team gives information, support and advice to patients and their families. They look at the specific condition they have, what their treatment options are and what lifestyle choices need to be made. They will also look at any implications aortic disease could have on future pregnancies.

Weekly clinics

Professor Nienaber, consultant cardiologist, runs an aortopathy clinic each Tuesday morning. He focuses on thoracic aortic aneurysm and dissections (familial).

We also have a monthly family clinic on a Friday afternoon, run by Professor Nienaber, Dr Nitha Naqvi, paediatric consultant cardiologist and Dr Anand Saggar, consultant clinical geneticist. We hold this clinic at Royal Brompton Hospital, focusing on connective tissue disorder affecting the aorta.

Dr Saggar also runs a twice-monthly clinic at Harefield Hospital, and a monthly evening clinic at Royal Brompton Hospital. These clinics are diagnostic and focus on possible genetic causes of aortic disease and genetic counselling.

Diagnostic tests

Testing for aortopathies include:

a physical examination
a full personal, family medical history and detailed family tree
an ECG
an echocardiogram
blood test for genetics.

Many patients then have either an MRI (magnetic resonance imaging) scan or a CT scan. These scans can show all the other arteries including those in the abdomen and brain if needed.

Familial screening

As some aortopathies are inherited and have a genetic connection, it is likely that other family members may also have the condition.

A vital part of our work is screening other family members to see if they are at risk. For many of these conditions, children have a 50/50 chance of having a problem if the parent has it.

We will review a patient's parents, siblings and children, and talk to a patient about current clinical trials if we think it is appropriate.

Follow up clinics

Once you have your diagnosis, we will ask you to come to our clinics on a regular basis. This is so we can carry out screening with echocardiograms and MRI scans.

Treatments

Medication

Beta-blockers are the most usual medication for people with aortic disease. This slows down the rate of dilatation of the aorta.

Surgical intervention

Some patients with dilated aortas will need to have surgery to replace the areas of weakness. We perform a range of intervention procedures including:

Bentall procedure
Valve-sparing aortic root replacement
Personalised external aortic root support (PEARS)
innovative new techniques such as aortic wraps (Exostent).

Family planning and pregnancy

As aortic disease can be passed down from parent to child, it is important to discuss any plan for pregnancy with your doctor. You may need to consider IVF techniques and screening before birth, but your doctor will discuss this fully with you.

Women who have aortopathies, in particular, Marfan syndrome, can risk aortic dissection during their pregnancy. If you are considering starting a family, you should discuss this with the multidisciplinary team.

Contact

Royal Brompton Hospital

If you have any queries regarding your appointment date, please call: 020 7352 8121, extension 2817.

If you have any other questions or concerns, please contact the ICC clinical nurse specialists by calling 020 7352 8121, extension 2913.

If we can't take your call, please leave a message and a nurse specialist will call you back.

Harefield Hospital

If your appointment is at Harefield Hospital, please contact the clinical nurse specialists by calling 01895 828 943.