Marfan Syndrome

Published on 27/02/2015 by admin

Filed under Anesthesiology

Last modified 27/02/2015

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57. Marfan Syndrome

Definition

Marfan syndrome is an autosomal dominant genetic defect of the connective tissue protein, fibrillin. It results in myriad clinical problems, predominately in the cardiac, musculoskeletal, and ocular systems.

Incidence

The incidence of Marfan syndrome is estimated to range from 1:5000 to 1:10,000.

Etiology

FBN 1 locus on chromosome 15 codes for the connective tissue protein, fibrillin. Mutations of the FBN 1 locus are believed to be responsible for Marfan syndrome.

Signs and Symptoms

Cardiovascular System

• Ascending aorta dilation
• Ascending aorta dissection
• Mitral valve annulus calcification
• Mitral valve prolapse
• Pulmonary artery dilation
• Thoracic or abdominal aorta dilation or dissection

Ocular System

• Abnormally flat cornea
• Ectopic lentis
• Hypoplastic ciliary muscle
• Hypoplastic iris
• Increased axial length of the globe
• Myopia

Pulmonary System

• Apical blebs
• Spontaneous pneumothorax
B9780323045681100576/gr1.jpg is missing
Marfan Syndrome. This young man has prominent arachnodactyly of both fingers and toes. Note the clubbing due to associated cardiopulmonary problems and the flattening of the arch of his foot.

Skeletal System

• Arachnodactyly
• Dolichocephaly
• Dolichostenomelia
• Downsloping palpebral fissures
• Enophthalmos
• High-arched palate with dental crowding
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