Case Report - Marfan syndrome: Report of two cases with review of literature

Abstract

Marfan syndrome is a variable, autosomal dominant disorder of connective tissue whose cardinal features affect the cardiovascular system, eyes and skeleton. The minimal birth incidence is around 1 in 9800. About three quarters of patients have an affected parent; new mutations account for the remainder. The patient’s prognosis depends on the severity of cardiovascular complications and is mainly determined by progressive dilation of the aorta. If signs of Marfan syndrome are recognized, it is important to refer to the correct health care professional for further testing to prevent associated complications. If not properly treated, premature death may be caused by the severe cardiovascular and pulmonary complications associated with Marfan syndrome. Therefore, it is important to identify this potentially life‑threatening condition in general practice. This article reports two cases with a very typical features of Marfan syndrome.