FORUM EKSPERTÓW
Thoraco-abdominal aneurysm repair in Marfan patients

Marfan syndrome is an autosomal dominant hereditary disease, which has an incidence of about 1 in 3000-5000 births.

This syndrome has been described by Antonio Bernardo Marfan, pediatrician in Paris Hospital, who visited a young woman with very long and tapering fingers (arachnodactyly) and massive articular weakness, and it remained undiscovered for many years.

This syndrome mainly presents in the 2nd–4th decade (young adults), more often in men according to some statistics, with equal incidence according to others.

Marfan disease is substantially due to a genetic mutation in autosomal chromosome 15 that causes incorrect production of a protein named fibrillin, which is one of the most important components of the extracellular matrix that builds elastin and elastic fibers.

In particular, this abnormality causes the inability to fix calcium, creating very weak connective tissue; eyes, osteo-skeletal and cardiovascular apparatus are hardly involved, because they are very rich in connective tissue.

There are more than 100 possible mutations in chromosome 15 but one of these mutations is present in just 75% of real Marfan patients.

We can use GHENT criteria to define Marfan disease; these criteria are not about the presence of any mutation; they concern how many apparatuses (primary or secondary) are involved at the same time, with or without a familiar risk factor.

This syndrome is very variegated; in fact, we often encounter patients who do not present any physical sign of Marfan syndrome (Marfan stigmata) but have a typical Marfan cardiovascular apparatus; these patients are named “Marfan Frusti” and they deserve the same treatment as real Marfan patients.

Finally, 25% of Marfan patients have no familiar history of disease.

Now we know that Marfan syndrome mainly concerns eyes, osteo-skeletal and cardiovascular apparatus but just the last one is the most frequently involved as the principal cause of mortality and morbidity; in 75% of cases, the disease starts with aortic bulb and ascending aorta expansion in young adults, which are exposed to dissection and rupture. The remaining 25% of patients present aortic arch (10%), descending aorta (9%), thoraco-abdominal tract (5%) and subrenal aortic tract (1%) expansion.

In particular, we discovered that more than 90% of TAAs (thoraco-abdominal aneurysms) in Marfan patients...


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