Marfan syndrome

Abstract

Marfan syndrome is an autosomal dominant multisystem disease with a worldwide incidence of 1:3,000 - 5,000. This may present with a wide variety of symptoms and signs and mainly affects the skeleton, cardiovascular system and eyes2,3. Mutation in the gene FBN1 that encodes extra-cellular matrix protein Fibrillin -1, causes classic Marfan syndrome. But 30% cases may present denovo. The patient’s prognosis mainly depends on cardiovascular involvement and its severity. It is important to identify this potentially life-threatening condition early and initiating immediate medical and surgical intervention by referring the patient to the concerned healthcare professionals2,3,4.