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Marfan syndrome (MFS) is a genetic disorder of the connective tissue, in particularly affecting the heart, blood vessels, skeleton and eyes. Connective tissue provides the structural support and helps to maintain the elasticity of the ligaments, skeletal structures, blood vessel walls and the heart valves.
It is estimated that one in 5,000 to 10,000 people are born with MFS. Occurrences of MFS can occur in all races and affect both genders equally.
While MFS may be present at birth, some symptoms develop gradually over a number of years. The severity of symptoms varies from person to person, even among affected family members.
The main features include:
Cardiovascular (heart and blood vessels). Weakening and stretching of the blood vessels can occur. This applies in particular to the aorta (the main blood vessel carrying blood away from the heart) and increases the risk of aortic aneurysm, dissection or rupture (bursting).The heart’s valves may also be affected. The most common condition is mitral valve prolapse (MVP). In MVP, the valve leaflets become floppy and do not close tightly. This can cause leakage of blood backwards across the valve. This is known as mitral regurgitation (MR). If mitral regurgitation progresses and is left untreated, it can eventually cause heart failure.
Seek medical attention if there is:
MFS is caused by changes in the
FBN1 gene located on chromosome 15. Genes are instructions for cells to make proteins in the body. MFS is the result of a change (mutation) in the
This gene controls the production of fibrillin-1, which is a very fine fibre that is found in connective tissue. Fibrillin fibres come together to form an elastic mesh which helps to support certain structures in our body, such as blood vessel walls and the lens of the eye.
Fibrillin-1 also regulates the activation of transforming growth factor beta (TGF-β) binding protein, which takes part in the regulation of many different cell functions and affects connective tissues throughout the body.
Everyone carries two copies of each gene, one inherited from each parent. MFS follows a
dominant inheritance pattern, which means the presence of one faulty
FBN1 gene can cause MFS.
If either parent has MFS, a child has a 50% chance of inheriting the disease.
Among people with MFS, about 75% of them would have inherited the genetic change from one of their parents. As some people with MFS may have a mild form of the disorder, the parent may not have been previously recognised as having MFS.
The other 25% of people with MFS have it because of a new mutation in the gene.
MFS is diagnosed based on a full evaluation by a doctor familiar with the disorder. This involves the following:
While it is not possible to cure MFS, much can be done to make sure you/your child has the best possible outcome.
The multidisciplinary medical team looking after you/your child will be able to address specific medical concerns and routine MFS-related health issues.
Management measures may include:
There are also important lifestyle considerations for an individual with MFS: