Marfan Syndrome

 

What is Marfan syndrome?

Marfan syndrome is a disorder of connective tissue that affects the skeletal system cardiovascular system, eyes and skin. Marfan syndrome is caused by defect in the fibrillin-1 gene, which serves as a building block for elastic tissue in the body.

Persons with Marfan syndrome are usually tall and thin with usually long arms, legs, fingers and toes.

Causes

Marfan syndrome is autosomal dominant disorder caused by mutation in the fibrillin 1-gene on chromosome-15.

Symptoms

• Tall and thin body structure, slender fingers, long arms and legs.
• An abnormal curvature in the spine.
• Presence of visual problems specially nearsightedness
• Presence of cardiac problems like palpitation, angina, and heart murmur.
• Flat feet.

Complications

• Aortic aneurysm
• Heart valve malformations
• Retinal detachments and tear in the retina.
• Early-onset of cataract and glaucoma.
• Abnormal curve in spine like scoliosis.

Diagnosis

Marfan syndrome is diagnosed by doctor the presence of sign and symptoms in affected person or presence of family history of this disorder in other family member. Heart examination and eye examination performed to find out defects and CT or MRI is advised. Genetic testing is often used to confirm the diagnosis of Marfan syndrome.

Treatment

• There is no cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease.
• Nurse monitor the affected person for vision problems and manage it.
• Monitor for curvature of the spine, especially during adolescence.
• Cardiac medication may be prescribed to slow the heart rate, to stress on the aorta.
• Instruct parents that the child should avoid participating in competitive athletics and contact sports to avoid injuring the heart.