More About Marfan Syndrome

Marfan syndrome is a heritable (in 75%) disorder of connective tissue that affects many organ systems including the -

skeleton
lungs
eyes
heart and blood vessels

The condition affects both men and women, of any race and ethnic group.

Connective tissue forms the glue between cells in the body's tissues, holding the cells together and giving those tissues structure and shape. It is made of a number of different molecules, including a range of fibres which give strength and elasticity to many tissues. This tissue provides the stretchy strength of tendons and ligaments around joints and allows the muscular blood vessel walls to expand and contract with every heart beat. It is also important in eye and lung. In Marfan Syndrome a protein called fibrillin is deficient or abnormal. Fibrillin is part of the elastic fibres, accounting for the unusual stretchiness and weakness of tissues. The fibres which hold the lens of the eye in place are made of fibrillin, so abnormal or deficient fibrillin explains the dislocation of the lens seen in Marfan Syndrome. A mutation/error in the fibrillin gene on chromosome 15 is said to be responsible for the diminished fibrillin production or production of abnormal fibrillin molecules which cannot function properly.

Medical problems associated with Marfan syndrome
(See also Publications)

Cardio-vascular system:

The most serious problems associated with Marfan syndrome involve the cardio-vascular system. The aorta, the main artery carrying blood away from the heart, is generally wider and more fragile in patients with Marfan syndrome. This widening is progressive and can cause tears (dissection)in the aorta wall. When the aorta becomes greatly widened, or tears, surgical repair is necessary. Leakage of blood back through the aortic valve can also be a problem and surgical repair may need to be done.
In addition, the two leaflets of the mitral valve may billow backwards when the heart contracts (mitral valve prolapse). This can lead to leakage of blood back through the mitral valve, or, irregular heart rhythm.

Skeletal

Effects on the skeleton include curvature of the spine (scoliosis).
Pigeon or funnel chest.
Tall stature (not always) and loose jointedness.
Arm span usually greater than height and legs and fingers are also long.
Patients may have flat feet.
Dural ectasia can sometimes present a problem.

Eyes

The major eye problem is dislocation of the ocular lens.
People with MFS are generally near-sighted or myopic.
They may suffer from retinal detachment.

Lungs

Spontaneous collapse of the lung (pneumothorax) with breathlessness and chest pain may occur. This problem requires prompt attention,but is not life-threatening.

*Characteristics of the disorder vary greatly among affected individuals, even among siblings of the same family.

How is Marfan syndrome diagnosed?

The possibility of a diagnosis of the Marfan Syndrome can only be assessed after a complete physical examination that focuses on the systems affected by the disorder.

This includes:

Detailed medical family history.
Complete physical examination.
Echo-cardiogram at the cardiologist or hospital, or MRI or CT scan. An electro-cardiogram is not adequate screening.
Slit-lamp eye examination by an ophthalmologist/eye-specialist.
Skeletal examination.

MRI Machine

People with MFS should be treated by a physician familiar with the condition and with the effects it has on all body systems and who also can advise on screening of the family. Treatment (after initial consultation)

Yearly repeats of annual echo-cardiograms, to monitor the size and function of heart and aorta. If the aorta is not dilated, the cardiologist may recommend less frequent monitoring.
Periodic follow up with the eye specialist.
Monitoring of the skeletal system especially during childhood and adolescence, by means of chest and back x-rays.
Beta-blocker medication, may be prescribed to lower blood pressure and regulate heart rhythm reducing the strain on the aorta and slowing the widening of the aorta. Once it becomes around 5 cm wide, elective aorta surgery may be considered.
For those people with cardiac complications antibiotics are sometimes recommended prior to dental and general surgery, to reduce the risk of infection.
Try and stay fit, to improve muscle tone, including that of the cardio-vascular system.

Avoid strenuous exercises and activities, avoid contact sports or generally exhausting sports, to prevent injury to the main blood vessel.

Marfan Clinic Information

As you know, Marfan Syndrome can affect a number of areas of the body. Therefore there are obvious advantages for those with Marfan Syndrome in Ireland, being able to access a specialist centre where all symptoms of the Marfan Syndrome would be investigated and monitored by specialists familiar with the Marfan Syndrome. A kind of “one stop shop”.

At the moment there is a Specialist Out-Patient public clinic for patients with Marfan Syndrome, in the Mater Misericordiae University Hospital, Dublin. The clinic has been developed to deal with the cardiovascular complications experienced by Marfan patients.

Prof.M.Redmond Consultant Cardiothoracic Surgeon and Dr.K.Walsh, Consultant Cardiologist jointly attend this clinic. A separate consultation occurs with Rhona Savage, Clinical Nurse Specialist in Congenital Heart Disease. The Nurse Specialist provides information in relation to Marfan Syndrome and how this affects each patient.

The first clinic was held in the Mater on the 15th October 2004. While initially, the clinic will be dealing with cardiac matters it is hoped that the clinic will eventually work towards including all medical area's.

To access this service, a referral letter should be sent from your present Cardiologist or G.P. to the following address: Prof.M.Redmond, Consultant Cardiothoracic Surgeon, Mater Misericordiae University Hospital, Eccles Street, Dublin 7.

These letters will be reviewed by the consultant who prioritises the request. The consultants' secretary then informs the patient in writing of the appointment. For more information please contact: Secretary to Prof.M.Redmond on (01) 803 2163 or Rhona Savage, Congenital Heart CNS on (01) 803 4701.