Features 

Vascular problems tend to arise primarily in the heart and the aorta (the main artery taking blood from the heart, through the chest, and out to the body through the abdomen).

These are among the most serious concerns in MFS – because they can be life-threatening.

The key thing to appreciate though is that vascular problems in MFS tend to develop with age; they are often not present or do not cause any symptoms when younger. This is the reason why people with MFS should be screened for vascular problems and also undergo regular monitoring.

In MFS the wall of the aorta may be weak. It may balloon out or dilate to form an aneurysm that may then rupture causing serious or fatal internal bleeding.

In the heart there four valves that are ‘gates’ between the four heart chambers and major blood vessels. The two most often affected in MFS are the Mitral valve (that normally stops backpressure and blood flow back from the heart toward the lungs) and the Aortic valve (that normally stops backpressure and blood flowing back from the aorta to the heart). If these valves are weakened they ‘prolapse’, the heart has to work harder to be effective, heart muscle weakens, the chambers dilate, and the heart becomes less efficient as a pump.

Symptoms and tests

An aneurysm may be ‘silent’ until it tears or ruptures. Before this level of severity though an individual may experience chest, back or abdominal pains as the aneurysm develops.

A clinician might find unequal pulses between the arms and legs, or weak pulses and cold extremities. They may also be able to feel a dilated blood vessel in the abdomen.

A weakened heart might present with shortness of breath, chest pain, a fast heart rate.

Using a stethoscope the clinician can hear abnormal sounds of blood flowing through the valves, and fluid in the lungs because of a backpressure from the heart. They may also find complex changes in the character of the pulse and blood pressure that would lead them to be suspicious of heart valve problems.

The key investigation is echocardiography, an ultrasound technique that demonstrates the shape and functioning of the heart and aorta. There are very specific dimensional changes to the heart and aorta that have to be recorded in order to make a diagnosis of MFS. These changes are also looked for when monitoring and assessing the effectiveness of treatments, and the severity of them is used to decide if surgery.

Echocardiography might be undertaken every 6-12 months for the first few years depending on whether a problem has been identified or not. This might then change to every 2-5 years of regular monitoring, again dependent on whether anything abnormal was found in the first place and how much (if at all) the abnormality has changed over time.

In pregnancy an individual with MFS should have an echocardiogram roughly every 8-10 weeks throughout the pregnancy, and approximately 10 weeks after, before returning to their previous monitoring plan.

Management

It is important to be aware of the common causes of heart and vascular disease that occur in the general population and to avoid these as best as possible. This includes regular checking and the control of blood pressure, and maintaining a healthy lifestyle and body-weight avoiding obesity, high cholesterol, gout and diabetes. These are all things a GP can advise one over.

Beta-blockers are often prescribed to reduce damage to the heart and aorta by controlling blood pressure, slowing down the heart rate, and decreasing the amount of force or work the heart muscle has to undertake during each heartbeat.

Studies have shown that Angiotensin Receptor Blockers (or ARBs) can reduce the risk of dilation of the aorta. There are several clinical trials currently being undertaken to determine whether ARBs may be as effective or more effective than Beta-blockers.

 Heart valve surgery may be required to reduce the risk of developing life-threatening complications if the heart valves are very weak. The most common of these procedures is an aortic valve replacement and surgery to repair the first part of the aorta (the aortic ‘root’). Surgery may also be needed to repair an aneurysm.

 Treatment to reduce the risk of heart and aortic complications, and surgery to correct valve prolapse and aneurysms has had a major impact on improving the lives of MFS patients.

(Review date August 2019)

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