Treatment options for Marfan Syndrome

There is no cure for Marfan Syndrome.  Thankfully there are successful treatment options for almost all complications which can help minimize the risks involved and also help prolong the patients life.  All treatment must be discussed in depth with your relevant doctor/consultant to a programme that benefits you.  The following information is a guide only.

• Cardiovascular System – Regular (annual) heart examinations are important for patients with Marfan Syndrome.  If on an Echocardiogram examination it is found that there is enlargement in any part of the aorta, the Cardiologist may prescribe blood pressure lowering medication.  This reduces the pressure of the blood going out of the heart and therefore reduces the amount of stress placed on the aorta.  Beta-blockers help to slow down or stop the growth of the aorta.  Sometimes however there comes a point where surgery is required.  If possible, surgery should be performed before the aorta gets to a critical stage where it is at risk of dissection.    Cardiologists advice should be followed for any invasive procedure following surgery to ensure risk of a heart infection called Endocarditis is avoided (more particularly in patients with artificial valves). Patients should immediately attend their local Accident & Emergency if they experience sudden onset of chest pain, back pain or abdominal pain.

• Skeletal System – It is particularly important monitor closely the skeletal system especially the spine and chest bone in children.  Any changes in the spine or chest bone may need bracing or corrective surgery, especially if they are having an effect on the heart and lungs.

• Occular System –   Eyeglass or contact lenses are usually prescribed for severe myopia (nearsightedness).  If dislocation of lenses occurs, surgery may be required.  It is therefore extremely important to keep a regular check on the eyes with an optician.

• There is no specific treatment for Dural Ectasia to date, but pain medication may be prescribed to help with the symptoms. 

• Marfan patients are at risk of collapsed lungs (spontaneous pneumothorax).  Medical attention should be sought if the following symptoms persist - sudden onset of chest pain made worse by taking a deep breath, shortness of breath and/or dry cough.

   

General Advice

Patients with Marfan Syndrome should be followed closely on a regular basis.  Full checks should ideally be performed on children with Marfan Syndrome (eyes, heart, spine, other skeletal examinations).  When growth stops the eyes and heart require annual check-ups.

Patients should try and stay fit to keep muscle tone and protect the cardio-vascular system, however, this should be done with mild exercises such as walking, leisure cycling, swimming etc.  Strenuous activities such as competitive sports and activities such as push ups or sit ups should generally be avoided.  The general guidelines is that the patient should be able to carry out a conversation without being out of breath while undertaking these activities.