Marfan Syndrome : Correct diagnosis can save lives

Abstract

Marfan syndrome is a heritable disorder of the connective tissue that affects many systems of the body. However, the most serious complication in patients with Marfan syndrome is progressive enlargement of the aortic root, which may lead to aortic dissection, rupture, or aortic regurgitation. Prevention of these life threatening complications is very important in the management of this condition. A 39-year-old Omani man presented with progressive shortness of breath and eventually underwent major but successful cardiac surgery. It is very important to recognise Marfan syndrome early as preventive actions are possible if the condition is diagnosed before complications occur.