What is Marfan Syndrome?
Explanation and Examination
Marfan syndrome is an autosomal dominant genetic disorder that affects about 1 in 5000 people. Echocardiography is an essential tool to diagnose and to monitor the most critical aspect of the disorder, its impact on the cardiovascular system. The following case will teach you how to properly assess this disease with echocardiography.
Marfan syndrome was first described by French pediatrician, Antoine Marfan, in 1896 when he identified a five-year-old girl with unusually long limbs and other skeletal abnormalities. This condition is a connective tissue disorder caused by mutations in the FBN1 gene, which affects the production of fibrillin-1. This glycoprotein is essential for the formation of elastic fibers in connective tissue, affecting the skeletal, ocular, and cardiovascular systems.
