What is it and what are the symptoms of Marfan syndrome?
Marfan syndrome is a systemic disease that affects about 1 in every 5,000 people. It is caused by a genetic mutation with repercussions in various systems of the body, from the cardiovascular to the articular system
However, patients suffering from this disease can go about their daily lives normally and enjoy a life expectancy equal to that of all others if they are treated appropriately.
What is Marfan syndrome?
Marfan syndrome is a genetically determined physical condition that involves several organs and systems at the same time.
The common denominator is an alteration in the structural system of connective tissue.
The genetic mutation that causes Marfan syndrome results in an alteration in fibrillin, a protein that is part of collagen, which makes up the connective tissue.
As such, collagen is involved in many structures in the body.
Those most affected are the walls of the aorta, the structure of the heart valves, the skin and ligaments, including those of the eye.
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Symptoms of Marfan syndrome
Patients who are born with Marfan syndrome have progressive dilatation of the aorta, suffer from ligament laxity, bone mineralisation problems and early osteoporosis and, in the eye, may experience displacement of the crystalline lens.
The manifestations of the syndrome vary from person to person, but it tends to be noticeable on a physical level in everyone:
- greater than average height;
- joint hyperextensibility.
There are no repercussions in the intellectual-cognitive sphere.
Cardiovascular risk associated with Marfan syndrome
Careful monitoring of patients with regular check-ups and instrumental examinations allows us to anticipate problems and prevent them from leading to serious complications or acute episodes.
In patients with Marfan syndrome, the greatest cardiovascular risk is linked to the aorta (the main artery of the human body), which tends to widen.
Aortic dissection, i.e. the tearing of the inner wall, is the most frightening and life-threatening development.
Fortunately, these acute episodes are quite rare, as we keep patients under control and administer drug therapy to slow down the growth of the aorta.
If there is no adequate response to prophylaxis, we consider surgery together with the team of cardiac surgeons.
We are very rigorous in our periodic follow-ups and have advanced imaging techniques, so we never intervene too early or too late.
In case of aortic valve insufficiency, we also evaluate a conservative operation of the native valve, which avoids anticoagulant therapy and allows a rapid functional recovery.
By monitoring the development of the situation, patients arrive at the operation with a structurally good valve and without deterioration of the contractile capacity of the heart.
For mitral valve surgery, which does not have a prophylactic treatment to avoid surgery, we can guarantee patients a minimally invasive approach which, using advanced techniques, limits visible scars and allows a faster recovery.
Eye problems
Patients with Marfan syndrome may experience some eye problems.
A dislocation of the crystalline lens may occur, i.e. the lens may become dislocated from its normal location. The crystalline lens is the lens inside the eyeball, which is held in place by ligaments.
Due to the laxity of these ligaments, it can shift, creating significant and progressive visual disturbances.
This is why we advise our patients, especially those of paediatric age, to avoid violent contact sports: this does not mean limiting activity, but to beware of blows or headbutts.
In the event of dislocation of the crystalline lens, however, surgery is decisive.
The skeletal system
Problems involving the musculoskeletal system are the ones that most affect our patients’ daily lives, due to frequent dislocations and sprains.
Problems of early osteoporosis, even in adolescents, are frequent, so it is necessary to anticipate and implement all possible preventive strategies.
How Marfan syndrome is diagnosed
The diagnosis of Marfan syndrome is purely clinical, then supported by a genetic test.
We start with an examination, an assessment of the person’s structure with echocardiography, vascular ultrasound, orthopaedic and ophthalmic evaluations.
Already at this early stage we can tell, with objective data to support it, whether it is a case of Marfan syndrome or whether the picture can be traced to another genetic aortopathy.
Problems in the aorta are the starting point in the assessment: by checking the family history, we can tell whether it is a syndrome or a familial form of aortopathy.
In syndromes, children may also be involved, whereas in non-syndromic familial forms of aortopathy, the relationship is time-dependent.
If, for example, there is someone in the family who had an operation on the aorta or other arteries before the age of 65, we speak of a predisposition.
In the case of syndromes, however, there is a direct relationship between one generation and another, and the first signs can be seen as early as childhood or adolescence.
The genetic test, once these investigations have been carried out, gives us the certainty of Marfan syndrome.
The diagnosis can be made either in childhood or adulthood, depending on when patients are referred to our centre.
Today, the suspicion of diagnosis is raised more often and earlier than years ago and general practitioners and specialists are made aware of the issue.
We always remember the importance of diagnosis: in the case of genetic aortopathies it means changing people’s outlook on life and avoiding an acute event that could prove fatal.
Marfan syndrome and pregnancy
In the case of Marfan syndrome there is a 50% chance that a newborn child will be a carrier of the parent’s disease.
It is possible to undergo a genetic test to detect the presence of the mutation, starting from the 11th week through amniocentesis.
Termination of pregnancy is an option, but most of the families we follow opt to go ahead with it.
There are also those who choose not to take the test, because they do not feel that this syndrome significantly compromises their quality of life.
In other cases, assisted fertilisation is used or adoption proceedings are initiated.
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