Late diagnosis of Marfan syndrome with fatal outcome in a young male patient: a case report.

Abstract

Marfan syndrome is a heritable disorder of the connective tissue that affects many organ systems. However, the most serious complication in patients with Marfan syndrome is progressive aortic root dilation, which may lead to aortic dissection, rupture or aortic regurgitation. Prevention of these life threatening complications is of major importance. We report here a case of a 34-year-old, Caucasian male diagnosed for the first time with Marfan syndrome. He required medical attention due to his chest pain that resulted as a consequence of strenuous physical effort. Medical examinations revealed severe aortic root enlargement and aortic intramural hematoma. Patient ended-up fatally during open heart surgery. It is very important to recognize on time Marfan syndrome, as preventive actions that should be undertaken can avoid its serious consequences.