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All you need to know about Marfan Syndrome

Written by: Dr. Fernando Cabrera Bueno
Published: | Updated: 20/02/2020
Edited by: Top Doctors®

Marfan syndrome is an inherited disease that affects the connective tissue, especially muscle-skeletal cardiovascular system, eyes and system. Both the disease itself and its diagnosis (based on clinical, genetic and imaging tests) are very complex, so, for them, you need to visit several specialists apart from the cardiologist .

What is the life expectancy of Marfan Syndrome?

The survival rate of patients who suffer mainly depends on the severity of the cardiovascular involvement as breakage or aortic dissection is the most frequent cause of death, usually sudden death.

It is estimated that , if a patient with Marfan syndrome are not having proper monitoring or treatment, life expectancy is 30 years, whereas, if properly treated, is 70. It is therefore vitally important to diagnose and treat the disease as soon as possible.


What are the causes Marfan Syndrome?

The main cause of Marfan syndrome is a mutation in the fibrillin gene 1 (FBN.1) located on chromosome 15, which causes a decrease in the quantity and quality of fibrillin-1, which is deposited in the tissue matrix connective (fluid around the cell) and therefore alterations in various organs and systems.


What are the symptoms of Marfan Syndrome?

The main changes of this disease are not always symptomatic:

  • Dilation and / or aortic rupture: it is very important to diagnose dilation and treat surgically because, as explained above, the fracture has a high rate of mortality and sequelae involving a lower life expectancy and poorer quality of life in the survivors.
  • Lens dislocation: the lens (part of the eye located between the iris and the vitreous humor) usually move temporarily and up. This alteration occurs in 80% of patients, usually before age 10, although usually not present at birth.
  • Systemic disorders: particularly in the skeletal system, such as deformity of the sternum, scoliosis, sprains repetition, etc.. Although not alterations that endanger the patient's life, they can cause a worse quality of life.


What is the incidence of Marfan Syndrome?

It is estimated that this disease affects one in every 5,000-10,000 inhabitants, without affecting more to one gender than the other. His inheritance is autosomal dominant, ie, if one parent has it , the probability of inheriting is 50%. Still, 25% of the cases of Marfan syndrome have no family history, but the disease has been produced by a new genetic mutation.


What is the treatment of Marfan Syndrome?

Marfan syndrome has no cure, but there are treatments to prevent complications of specific alterations. In the case of aortic dilatation, at an early stage, drugs such as beta-blockers or antagonists Angiotensin 2 are used, while when the expansion reaches 5 cm, surgery is performed.

As for skeletal alterations, it is important to exercise, but not advised those impact or contact such as boxing, basketball or soccer, and sometimes orthopedic treatments. Only in exceptional cases corrective surgery is required.

Finally, in the case of dislocation of the lens, sometimes relocation should be performed by implanting an intraocular lens.


What are the latest advances in research of this disease?

In recent years, progress has been made both in the diagnosis and treatment of disease. First, with the updated guidelines for diagnosis, it has managed to reduce false diagnoses, as well as making earlier diagnoses, and even has been achieved preimplantation genetic diagnosis.

In the treatment, apart from the advances in ophthalmology and orthopedic traumatology, it has achieved a qualitative leap in cardiac surgery, where they have developed new surgical techniques to achieve the preservation of the aortic valve. In addition, some research has shown the potential positive effect of some antagonists Angiotensin 2 in reducing progression of aortic dilatation.

*Translated with Google translator. We apologize for any imperfection

By Dr. Fernando Cabrera Bueno

Dr. Cabrera Bueno is a specialist in Cardiology developing its healthcare activity in the heart area of ​​the University Hospital Virgen de la Victoria and the International Xanit; in the latter center is Clinical Director of Cardiology, besides being the head of the first unit Marfan private healthcare in Spain. Cardiologist with Quality Accreditation Expert, certified by the Health Quality Agency of Andalusia. It is also a cardiologist expert in echocardiography and aortic diseases.

Author of books endorsed by the Spanish Society of Cardiology Echocardiography and electrocardiography. Ed itor associated Cardiocore magazine and author of numerous publications in medical and scientific journals.

*Translated with Google translator. We apologize for any imperfection

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