Marfan syndrome, a hereditary disorder, affects the body's connective tissues. It can lead to life-threatening heart problems. The Department of Cardiology, National Heart Centre Singapore (NHCS) tells you more.
Marfan syndrome: What is it?
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
Adj Assoc Prof 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
“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: Causes
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.
Marfan syndrome: Signs and complications
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
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.
“Leaky” heart valves
People with Marfan syndrome may experience mitral valve prolapse. These “leaky” mitral valves can cause heart murmurs.
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.
Serious eye problems
Marfan syndrome patients are at a higher risk of lens dislocation, retinal detachment and severe myopia.
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.