Marfan syndrome (also called Marfan's syndrome) is diagnosed using a combination of family history, aortic enlargement, lens dislocation, genetic testing and systemic score system. Doctors may need to conduct several tests, including heart tests (echocardiogram, CT scan, MRI) and eye examinations. Sometimes, in order to diagnose Marfan syndrome, genetic tests are conducted even though they are time-consuming and expensive.

“Presence of the Marfan syndrome in an immediate family member is one of the major criteria used in diagnosing the condition,” 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 SingHealth group.

Surgery is recommended for patients with severe aortic enlargement or significant heart valve defects (e.g. severe mitral regurgitation), while medications such as beta blockers and losartan may help to decrease the rate of progression of aortic dilatation.

Go for regular medical checkups

Make sure to attend the regular check-ups recommended by your doctor, such as regular ECG to monitor heart and valve defects. Regular eye examinations will allow for early detection of any potentially serious eye problems.

The risk of aortic rupture is higher in pregnant women with Marfan syndrome due to increased stress on the aorta walls, especially during delivery.

“Female Marfan patients who are contemplating pregnancy must have their risk carefully assessed by their cardiologists before becoming pregnant. Regular check-ups with your cardiologist will help detect any early complications,” says Adj Assoc Prof Tan.

Go for annual dental visits

Maintain excellent dental hygiene and visit your dentist at least once a year. Bacteria from untreated dental problems can travel in the blood and attack heart valves.

Keep physical activity at a moderate level

Unless your doctor has given you the all-clear, avoid lifting heavy objects and strenuous exercises because they may put undue burden on malformed heart valves, dilated aorta and underlying structural weaknesses of the eyes and skeleton.

Ref: R14