Marfan syndrome is caused by a nonsense mutation in the gene for fibrillin: clinical application of DNA diagnostics in aortic surgery

Molecular genetic studies of fibrillin gene may become a determining factor in evaluation of the risk of repeated interventions on patients with Marfan syndrome after surgery on the proximal aorta. Genetically predisposed histological changes of the aortic wall in patients with Marfan syndrome lead to high frequency of aortic aneurysm development or aortic dissection. It is important to understand that after reconstruction on the proximal aorta it is often required to perform additional surgery on distal aortic segments because of continuing pathological process. In the article we present an example of successful staged surgical treatment of patient with Marfan syndrome, aortic dissection DeBakey type I and fusiform aneurysm of abdominal aorta. Initially the patient underwent Bentall procedure with aortic arch replacement. However despite the successful surgical treatment with hemodynamic correction type I (setting the blood flow into true lumen) the patient required another intervention because of fusiform abdominal aortic aneurysm. The case presented shows that patients with Marfan syndrome require lifelong follow up with control of aorta and its branches, also after initial surgical intervention. These patients often have progressively developing aortic pathology, that is why the role of genetic study must not be underestimated: location of mutation, the type of genetic damage allows to adequately orient the doctor at the planning stage of treatment in order to achieve the most radical effect of surgical intervention.