Marfan syndrome (also spelled Marfan’s syndrome) is a genetic disorder of the body’s connective tissues. Healthy connective tissues help to maintain the elasticity of ligaments, skeletal structures, blood vessel walls and heart valves.

Marfan syndrome patients, who are typically tall and thin with very long limbs and fingers, are at risk of serious complications affecting the heart, eyes and other organs.

“About 75 per cent of patients with Marfan syndrome have inherited it. New genetic mutations explain the other 25 per cent of cases,” says Clinical Associate Professor Tan Ju Le, Senior Consultant, Department of Cardiology and Director of the Adult Congenital Heart Disease (ACHD) programme at National Heart Centre Singapore (NHCS), a member of the SingHealth group.

“Early diagnosis and treatment will help people with Marfan syndrome overcome common potentially life-threatening complications such as aortic enlargement and leaky heart valves,” adds Dr Tan.

Marfan syndrome is caused by a genetic defect in the FBN1 gene on chromosome 15 (which controls the body’s production of fibrillin, an essential protein that strengthens connective tissues). This congenital disorder affects men and women equally as it is a dominant genetic trait.

Distinct physical appearance

People with Marfan syndrome share the following physical features to a varying degree:

• Tall and thin build
• Disproportionately long limbs and fingers
• Unusually loose and flexible joints
• Curved spine (scoliosis)
• Abnormally shaped chest, with inward caving breastbone
• High-arched palate and crowded teeth
• Flat foot

1. Enlargement of the aorta

The enlargement of the aorta, the major blood vessel from the heart, may further weaken its wall, resulting in rupture (aortic dissection) and sudden death.

2. “Leaky” heart valves

People with Marfan syndrome may experience mitral valve prolapse. These “leaky” mitral valves can cause heart murmurs.

3. Infection of the heart’s inner lining

Most people with Marfan syndrome are at risk of endocarditis, an infection of the inner lining of the heart wall or heart valves.

4. Serious eye problems

Marfan syndrome patients are at a higher risk of lens dislocation, retinal detachment and severe myopia.

5. Lung complications

It is estimated that 10 per cent of patients with Marfan syndrome will suffer from lung collapse, requiring hospitalisation.

Read on to find out how doctors diagnose a Marfan syndrome patient and how one can manage the condition.

Ref: R14