A 50-Year-Old Woman with Marfan's Syndrome

Abstract

Marfan syndrome (MFS) is a systemic connective tissue disorder. It is an autosomal dominant disorder caused by mutations in the extracellular matrix protein fibrillin-1 gene located on chromosome 15. It has variable range of expressions. Cardiovascular manifestations in Marfan’s syndrome patients include aortic and valvular diseases. Here we describe a 50-year-old female patient with Marfan syndrome who had aortic aneurysm with mitral and aortic regurgitation. Diagnosis was made on the basis of physical examination, color doppler study and family screening. She was previously being treated as a case of rheumatic valvular disease because her body habitus was overlooked. She was managed conservatively and advised to go for prophylactic surgery to prevent aortic dissection. She was also counseled about screening her children for transmission and expression of this disease.

Keywords

• Marfan’s syndrome
• Aneurysm
• Regurgitation