A CASE OF LATE DIAGNOSIS OF MARFAN SYNDROME

Abstract

Background. Marfan syndrome (MS) is a hereditary connective tissue disease (HCTD), which is accompanied by the development of aortic aneurism, ectopia lentis and signs of systemic involvement of connective tissue with high risk of fatal outcome in young age. Aim. To show the significance of timely diagnosis of HCTD. Material and methods. The present article describes a case of late diagnosis of MS in a patient with aortic aneurism, ectopia lentis, funnel chest and other signs of systemic connective tissue involvement. Results. A patient with the diagnosis of MS and high risk of fatal outcome due to aortic aneurism was subjected to ascending aorta and aortic valve replacement as well as tricuspid valve plasty. Conclusions. The timely diagnosis of MS allows organizing dynamic observation of the patient for correction of the present disturbances and prevention of complications.

Keywords

• Marfan syndrome
• hereditary connective tissue disorders
• aortic aneurysm
• clinical case