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St. George’s Aortic Team
Working together to provide excellent care and education and advance research into aortic conditions
Working together to provide excellent care and education and advance research into aortic conditions

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Marfan Syndrome and other related connective tissue disorders

Marfan Syndrome is caused by an abnormality in a gene that when present causes abnormal formation of connective tissue. The abnormality is found throughout the entire body, especially in the lining of all vessels and can cause a weakening of the vessels, particularly the aorta.

People who have Marfan Syndrome can have aneurysm of aorta (enlarged aorta) and disease of their aortic and mitral valves. They can also have health problems related to the eyes, bones, joints and lungs.

We provide a comprehensive care for patients and their families with Marfan or similar conditions, including diagnosis, family screening, counselling, specialist imaging, medical and surgical treatment and follow-up.

Aims of treatment are to reduce stress on the aorta and in some cases surgery may be necessary.

Although Marfan syndrome shares features with other connective tissue disorders such as Loeys-Dietz and Ehlers-Danlos syndromes, it stems from different genetic mutations.
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About Aortic Valve Disease

The aortic valve is the valve connecting the main pumping chamber of the heart (left ventricle) and the main artery (aorta).

There are two types of aortic valve disease:

> Aortic valve stenosis – when the aortic valve opening is narrowed, preventing the valve from opening and closing properly. This obstructs blood flow from the heart into the aorta and the rest of the body.
> Aortic valve regurgitation – when the aortic valve doesn’t close properly, causing blood to flow backwards into the heart.


Aortic valve stenosis can be caused by calcification and fibrosis of the valve leaflets (formation of chalky material with calcium). Around 2% of the population are born with a form of aortic valve which has two cusps (bicuspid aortic valve) as opposed to the usual three. The patients with bicuspid aortic valve are more prone to both narrowing and leakage of the valve.


Any or combinations of symptoms including shortness of breath, chest pain and tiredness can be present. However, some patients may have no symptoms and a heart murmur is diagnosed during routine check-up.

Diagnosis and tests

> Echocardiography is an ultrasound scan which evaluates the heart valves, aorta and the ventricles (the pumping chambers of the heart)
> CT / MRI may be required to evaluate the aorta and its base (aortic root)
> Coronary Angiography is a test to evaluate the state of the coronary arteries (vessels running on the surface of the heart). It is performed by injecting a dye into the groin or an arm vessel and then imaging the coronary arteries.

For more informating including the treatment for aortic valve disease, please visit our site at:
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The aorta is the major blood vessel that takes the blood from the heart to the rest of the body. An ascending or aortic arch aneurysm refers to enlargement of the aorta which causes aortic wall weakening. Aneurysms can develop anywhere along the aorta, which runs from the heart to the abdomen. Depending on their location, they are called thoracic, thoracoabdominal or abdominal aneurysms.

Depending on its size and growth, an aortic aneurysm may not ever rupture. However, follow-up is necessary because as the aortic wall enlarges, there is risk of the wall tearing. This is called dissection and can cause life-threatening bleeding, requiring emergency surgery. It’s therefore important to treat an aortic aneurysm before dissection occurs.

Factors that can contribute to development of an aortic aneurysm are:

> Atherosclerosis (hardening of the arteries)
> Genetic conditions. Genetic conditions that affects the connective tissue (lining and walls of the vessels and aorta) in the body, are at risk of a thoracic aortic aneurysm. Some of these conditions include Marfan syndrome, Ehlers-Danlos syndrome and Loeys-Dietz syndrome.
> Hypertension (high blood pressure)
> Bicuspid aortic valve. Approximately 2% of the population has a bicuspid aortic valve, meaning the aortic valve has only two leaflets (or cusps) instead of three. These people are born with this form of aortic valve. People with bicuspid aortic valve have an increased risk of thoracic aortic aneurysm.
> Other causes. Inflammatory conditions, such as giant cell arteritis and Takayasu arteritis.


Many patients have no symptoms and their problem is diagnosed on routine testing. Some present with high blood pressure, chest pain and/or shortness of breath. Some patients have a family history of aneurysm. An incidental murmur can also be found on routine examination by a GP or other health check.

To read more about the diagnosis process, the tests and treatments please visit our site at:
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Our team of expert doctors and researchers are specialists in aortic conditions.

We focus on two areas:

> Providing the best possible treatment and care for patients and their families
> Advancing diagnosis, treatment, research and education in this field

The team includes expertise in cardiology and genetics, cardiothoracic surgery, vascular surgery, cardiothoracic anaesthesia and cardiothoracic intensive care.

We specialise in the following diseases and conditions:

> Aortic aneurysm
> Aortic valve disease
> Marfan Syndrome

Research and Education

We carry out research into aortic conditions including causes, risk factors and treatment. We also have a well-established clinical and research training programme.

Find out more by visiting our site at:

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