Marfan syndrome is a genetic disorder that affects approximately 1 in 5 people worldwide. It affects the connective tissue which ensures the cohesion of the organism and intervenes in the body’s growth. Many parts of the body can be affected: the heart, bones, joints, lungs, nervous system and eyes. Symptom management now gives people with a life expectancy that is almost as long as that of the rest of the population.

Symptoms of Marfan syndrome vary a lot from person to person and can appear at any age. They are cardiovascular, musculoskeletal, ophthalmological and pulmonary.

Cardiovascular involvement is most commonly characterized by progressive dilation of the aorta, requiring surgery.

The so-called musculoskeletal damage affects the bones, muscles and ligaments. They give people with Marfan syndrome a characteristic appearance: they are tall and thin, have an elongated face and long fingers, and have a deformity of the spine (scoliosis) and chest.

Eye damage such as lens ectopia is common and complications can lead to blindness.

Other symptoms occur less frequently: contusions and stretch marks, pneumothorax, ectasia (dilation of the lower part of the envelope protecting the spinal cord), etc.

These symptoms are similar to other connective tissue disorders, which makes Marfan syndrome sometimes difficult to diagnose.

Marfan syndrome is caused by a mutation in the FBN1 gene which codes for the manufacture of the protein fibrillin-1. This plays a major role in the production of connective tissue in the body. A mutation in the FBN1 gene can reduce the amount of functional fibrillin-1 available to form fibers that impart strength and flexibility to connective tissue.

A mutation in the FBN1 gene (15q21) is involved in the vast majority of cases, but other forms of Marfan syndrome are caused by mutations in the TGFBR2 gene. (1)

People with a family history are most at risk for Marfan syndrome. This syndrome is transmitted from parents to children in a ” autosomal dominant “. Two things follow:

• It is enough that one of the parents is a carrier for his child to be able to contract it;
• An affected person, male or female, has a 50% risk of transmitting the mutation responsible for the disease to their offspring.

Genetic prenatal diagnosis is possible.

However, it should not be overlooked that the syndrome sometimes results from a new mutation of the FBN1 gene: in 20% of cases according to the Marfan National Reference Center (2) and in approximately 1 in 4 cases according to other sources. The affected person therefore has no family history.

To date, we do not know how to cure Marfan syndrome. But considerable progress has been made in its diagnosis and treatment of the associated symptoms. So much so that patients have a life expectancy almost equivalent to that of the general population and a good quality of life. (2)

Dilation of the aorta (or aortic aneurysm) is the most common heart problem and poses the most serious risk to the patient. It requires the taking of beta-blocking drugs to regulate the beating of the heart and relieve the pressure on the artery, as well as a rigorous follow-up by annual echocardiograms. Surgery may be needed to repair or replace part of the aorta that has been over-dilated before it tears.

Surgery can also correct certain eye and skeletal development abnormalities, such as stabilization of the spine in scoliosis.