Marfan’s syndrome

Marfan’s syndrome is a disorder that affects many parts of the body including the heart, blood vessels, skeleton, and eyes. One in 5000 people in the United Kingdom have Marfan’s syndrome and both men and women can be affected.

People with Marfan’s syndrome produce abnormal connective tissue. Connective tissue helps hold the body together, binding tendon to muscle and muscle to bone and is made of microscopic fibres. This tissue provides the stretchy strength of tendons and ligaments around joints and in blood vessel walls. In Marfan’s syndrome a fibre called fibrillin is made abnormally which causes tissue to become unusually stretchy and weak.

Marfan’s syndrome is a hereditary condition in 75% of cases. In the remaining 25% of cases it is caused by a new gene mutation. The condition is inherited dominantly and therefore children of a person with Marfan’s syndrome have a 50% chance of developing the condition.

What are the symptoms?

The severity and pattern of disease are variable in Marfan’s Syndrome, even within families. Diagnosis is made after a careful physical examination. People with Marfan’s syndrome are often very tall and can suffer from curvature of the spine. Their arms, legs and fingers are often long and their arm span may even be longer than their height. The joints of the hands and wrist are also very flexible. The roof of their mouth can be high and arched and their teeth seem overcrowded. They can also have problems with their vision caused by dislocation of the lens of the eye.

One of the main concerns for people with Marfan’s syndrome is that the main blood vessel in the body, the aorta, can become stretched and may tear (aortic dissection) or burst (aortic rupture). They can also develop leaking heart valves that can be detected by a doctor as a heart murmur.

Not everyone with Marfan’s syndrome has all of these problems and genetic test can provide a definite diagnosis in 80% of cases.

Treatment and advice

The complications of Marfan’s syndrome are often amenable to correction. The importance of diagnosing this condition is to allow careful observation so that the life-threatening complications of aortic dissection or rupture can be avoided. Dilation of the aorta occurs very slowly so performing an echocardiogram once a year will identify patients with this problem. Tablets called beta-blockers can slow down the process of dilation. Regular scans will identify patients with dangerously enlarged aortas and allow plans to be made for an operation to replace the dilated part.

Enlargement of the aorta can also cause the aortic valve to become leaky (aortic regurgitation). The function of the aortic valve is to prevent blood from flowing back into the heart once it has been pumped out. Malfunction of this valve causes a leakage of blood back into the heart and if severe can cause breathlessness. In these situations the aortic valve can be replaced at the same time as the aorta is repaired.

Leaking of the mitral valve can also be caused by Marfan’s syndrome. Constant leaking of the mitral valve causes the main pumping chamber to work harder and may again cause breathlessness sometimes with palpitations. In this situation the mitral valve can be surgically repaired or replaced.

Watch CRY’s myheart cardiologist talk about reasons why it is important to identify problems with heart valves below.

Complications affecting the eyes, mouth and the skeleton are not life threatening and attempts to correct each problem can be made. There are only four rare complications requiring emergency care:

a) Tear of the Aorta

The individual may present with severe chest pain as in a heart attack and may become unconscious.

b) Collapse of lung

May occur during periods of exertion and presents with severe breathlessness.  The individual may become blue and complain of chest pain.

c) Glaucoma

The dislocated lens may produce a sudden increase of pressure within the eye, causing acute eye pain.

d) Dislocations

Loose ligaments do not provide adequate support for joints, and cause dislocation.