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Marfan Syndrome

Marfan’s Syndrome: What it is, Symptoms, Causes and Risk Factors, Diagnosis, Treatments | National Heart Centre Singapore

Marfan Syndrome - What it is

​Marfan 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).

Marfan Syndrome - Symptoms

Marfan Syndrome - How to prevent?

Marfan Syndrome - Causes and Risk Factors

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.

Marfan Syndrome - Diagnosis

In the latest update based on Ghents Nosology for Marfan's Syndrome, Marfan syndrome can be established clinically when the patient (with no family history of Marfan's Syndrome) has at least 2 of the following criteria:
  1. Dilated aortic root
  2. Lens Dislocation
  3. Presence of a genetic mutation

Detailed medical and family history

Presence of Marfan's syndrome among an immediate family member is one of the major criteria in the diagnosis of Marfan's syndrome.
 

Marfan Syndrome - Treatments

​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.

Marfan Syndrome - Preparing for surgery

Marfan Syndrome - Post-surgery care

Marfan Syndrome - Other Information

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