​Marfan's syndrome is an inherited congenital disorder affecting the connective tissue of the heart, eye, bone and other organs. Connective tissue provides the structural support and helps to maintain the elasticity of the ligaments, skeletal structures, blood vessel walls and the heart valves. Marfan syndrome can occur as an inherited disorder (75% of the cases) or as a result of new mutation (25% of the cases).

Causes

Marfan's syndrome is caused by a genetic defect of chromosome 15, which is responsible for the production of fibrillin, an essential protein of connective tissue. Individuals with Marfan syndrome have defective fibrillin genes resulting in specific organ abnormalities. The severity of the abnormalities differs among individuals.

Risks

Adults with Marfan's syndrome are advised against lifting heavy objects and to avoid any strenuous exercises because of the malformed heart valves, underlying weakness of the major blood vessels, skeleton and eyes.

Regular eye examination is important and enables early treatment to lessen any eye problems.

Pregnant women with Marfan’s syndrome may be at high risk due to increased stress of the aortic wall especially during delivery.

Those with Marfan’s syndrome should be educated on the specific defects associated with this disorder. Regular check-ups with your cardiologist will help to detect any early complications.

Prevention of Infective Endocarditis (IE)

The incident of IE in congenital patient is higher than general population. Therefore it is important for congenital patient to maintain good oral, dental and skin hygiene as primary prevention. Cosmetic tattooing and piercing are discouraged due to the risk of IE. Antibiotic prophylaxis is considered for patient at highest risk for IE before surgery and dental procedures. Please discuss with your congenital team for the latest update on the antibiotic prophylaxis.

The following are diagnostic features of Marfan’s Syndrome:

• Enlargement of the major blood vessel from the heart (aorta) may further weaken its wall, resulting in rupture and sudden death.
• Mitral valve prolapse which results in 'leaky' mitral valve.
  
  
  

Skeleton

• Tall thin stature
• Disproportionately long limbs and fingers
• Spine maybe curved (scoliosis)
• Joint hyper-mobility
  
• Abnormal shaped chest: inward caving breastbone
• High-arched palate, crowding of teeth
• Flat foot

Eyes

Thorough eye examination by an ophthalmologist to check for lens dislocation/retina detachment and severe myopia (short-sightedness).

Lungs

Collapse of the lung may occur in estimated 10% of patients with Marfan’s Syndrome, requiring hospital admission for treatment.

​Problems arising from Marfan’s syndrome can be managed if diagnosed early. Individuals with severe aortic enlargement or heart valve defects are usually advised to undergo surgery. Others with minor heart valve defects or slight aortic enlargement are given medication to lower their heart rate and blood pressure. Regular echocardiogram is recommended to monitor these defects before it becomes severe.