Marfan syndrome

Overview

Marfan syndrome is an inherited disorder that affects connective tissue

Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton

Clinical features 

Tall and slender build

Disproportionately long arms, legs and fingers

A breastbone that protrudes outward or dips inward

Heart murmurs

Marfan syndrome is caused by a defect in the gene that enables your body to produce a protein that gives connective tissue its elasticity and strength

Complications 

a. Cardiovascular Complications

Faulty connective tissue weakens the aorta

b. Aortic aneurysm

The pressure of blood leaving the heart causes the wall of aorta to bulge out

c. Aortic dissection

Dissection occurs when a small tear in the innermost layer of the aorta's wall allows blood to squeeze between the inner and outer layers of the wall. This causes severe pain in the chest or back

d. Valve malformations

People who have Marfan syndrome have weak tissue in their heart valves. This produces stretching of the valve tissue and abnormal valve function. When heart valves don't work properly, the heart often has to work harder to compensate. This eventually leads to heart failure

Treatment includes medications to keep the blood pressure low to reduce the strain on the aorta

Many people with Marfan syndrome eventually requires preventive surgery to repair the aorta

Eye complications

a. Lens dislocation

b. Retinal problems

c. Early onset glaucoma or cataract

Skeletal Complications

Marfan syndrome can interfere with the normal development of the ribs, which can cause the breastbone to either protrude or appear sunken into the chest

Marfan syndrome increases the risk of abnormal curves in the spine, such as scoliosis

Investigations

Echocardiogram

CT

MRI

Slit lamp exam

Eye pressure test

Treatment

While there is no cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease

1. MEDICATIONS 

Blood pressure lowering drugs are prescribed to prevent the aorta from enlarging and to reduce the risk of dissection and rupture

2. Surgical procedures

a) Aortic repair - To prevent a life threatening rupture

b) Scoliosis treatment - 

Bracing

Surgery

c) Breastbone corrections -

 Surgery

d) Eye surgery -

For retinal detachment

For cataract