Overview

Physical activity is important in the prevention of many diseases. It is recommended for people of all ages and the benefits have been well proven. In people with Marfan syndrome, physical activity is important to prevent the worsening of the condition and the development of other clinical conditions. However, for people with Marfan syndrome, certain guidelines are necessary to avoid triggering any adverse events.

What is marfan syndrome?

Marfan syndrome is a connective tissue disorder that primarily affects the eyes, cardiovascular, and skeletal systems. Connective tissues are tissues that provide a framework to support the organs of the body and facilitate repair if there is any damage. They are the most abundant tissues in the body; think of them as scaffolding, upholding the body's structure. Thus, a person with Marfan syndrome will usually have:¹ 

1. Problems with the structure of the eyes, presenting with a dislocation of the lens and short-sightedness.
2. Defects in blood vessels, especially, the aorta (the largest artery in the body).
3. Problems with the skeletal system, including, joint looseness or overstretching, abnormal limb lengths, arthritis and scoliosis.

What causes marfan syndrome?

Marfan syndrome is caused by a genetic mutation that affects a protein in the body called fibrillin-1.¹ It can be hereditary if there is a family history. Geneticists describe Marfan syndrome as an autosomal-dominant condition, meaning that it can be inherited even if only one of the biological parents has the genetic mutation. 

Marfan syndrome is usually diagnosed by a doctor, using a combination of criteria including family history, imaging and a genetic review using other specific criteria. There is also a scoring method that assesses how the joints of the body respond to movement. Typically, the wrist, elbow, thumb joints and the chest. They will also assess for the presence of flat feet and abnormal curvatures in the spine, like scoliosis or kyphosis

Impact of marfan syndrome on exercise

The benefits of exercise for overall health cannot be over-emphasized. It improves overall physical, mental and cardiovascular health. For example, patients with high blood pressure (hypertension) and arthritis (joint pains) are advised to exercise in order to lower blood pressure and improve joint and muscle function. However, with Marfan syndrome, one has to be cautious with exercise, as it can further worsen the progression of defects in the aorta and cardiomyopathy. Furthermore, Marfan syndrome results in a poor ability to repair muscle tissues after injury, and there is a reduced ability to build muscle mass even with repeated physical activities.²

An aortic aneurysm is an adverse event that can occur with certain levels of exercise in people with Marfan syndrome.³ Therefore, it is generally recommended to avoid exercises or physical activities that are highly strenuous, or activities with a risk of collision. 

Generally, these exercises can lead to a variety of unfavourable factors in Marfan syndrome, including:⁴

1. An increase in the normal heart rate and blood pressure causes more pressure on the aorta.
2. An increased risk of bruising and internal bleeding.
3. Added stress on the skeletal system, causing pain and joint dislocations.
4. Head injuries can dislocate the eye lens or detach the retina, affecting the normal functioning of the eye. 

However, this does not mean that patients with Marfan syndrome should not exercise. There are significant cardiovascular benefits from low-intensity exercises in people with Marfan syndrome. Individuals who lead a sedentary lifestyle due to Marfan syndrome are at an increased risk of cardiovascular events, therefore, a balance needs to be struck, and simple physical activities remain particularly encouraged.²

Types of exercises

1. Static exercises 

Also known as isometric exercises, these are exercises that are carried out to increase tension in a muscle while its length remains the same.⁴ Traditionally, isometric exercises are usually avoided in people with Marfan syndrome because they can cause an increase in blood pressure, further stressing the aorta, and increasing the risk of an aneurysm.⁵

2. Dynamic exercises 

In contrast to the static group of exercises, when carrying out a dynamic exercise, the muscle moves through a full range of movement.⁵ There is usually no significant increase in blood pressure, in contrast with static exercises. Therefore, these exercises are usually recommended for people with Marfan syndrome.

Exercise considerations with marfan syndrome

It is important for people with Marfan syndrome to have a review with their doctor, heart specialist and physiotherapist about a proper exercise routine. This allows for the effects of these exercises to be properly monitored and adjusted. As specialist clinicians, they would have different considerations including:⁶

Individualised assessment

• Respiratory capacity: an assessment of the capacity of the lungs is essential, partly due to the growth deformity of the rib cage, which causes an abnormal chest wall. Some people can present with pectus excavatum (sunken chest due to the inward growth of the ribs into the breastbone), or pectus carinatum (pigeon chest where the ribs and breastbone grow outwards. The maximum oxygen uptake (VO2 max) is also assessed by spirometry. The higher the oxygen intake, the longer a person is able to carry out an exercise
• Muscle strength: the strength of the various muscle groups will also determine whether the physical therapist feels that the person is suitable enough for some programs under the guidance

Awareness and monitoring

It is important to remain aware of the response or reaction of the body to exercises. The heart rate, blood pressure, and increasing discomfort or fatigue will determine if one should continue an exercise program or not. 

Exercise plans

Although dynamic exercises are the mainstay of exercise for people with Marfan syndrome, a training protocol that targets maximum blood pressure and/or heart rate may be used. Some other exercises may also be modified to increase the intensity from low to moderate, but this is a conversation the person must have with their healthcare professional.

Examples of low-intensity exercises

• Walking
• Golfing
• Gardening
• Bowling
• Simple household chores

Examples of moderate-intensity exercises

• Brisk walking
• Lawn mowing
• Mopping or vacuuming
• Dancing
• Doubles tennis
• Riding a bicycle
• Water aerobics

Benefits of exercise

There is an overwhelming amount of information that supports exercise in people with Marfan syndrome.⁸

Cardiovascular health 

Low to moderate-intensity exercise can help to improve heart function, circulation and the structure of the arterial walls, compared to a sedentary lifestyle.

Respiratory health 

Maximum oxygen uptake is increased with exercise, and outcome measures like walking distance improve.

Muscle strength 

There is an increase in joint stabilisation, muscle tone and maintenance of muscle bulk. This reduces the risk of musculoskeletal injuries.

Mental health 

Overall, exercise has a positive effect on the mental well-being of a person, and can improve quality of life.⁷

Selecting an exercise

Now that you have a better understanding of how exercises can affect a person with Marfan syndrome. These are some recommendations when selecting an exercise:⁴

1. It is recommended that the selected exercise or sport is not competitive, and should be performed at an easy pace. There should be periods of rest or breaks to avoid overexertion.
2. Simple aerobic and dynamic exercises that do not overly raise blood pressure or heart rate will be a good choice. 
3. Avoid collisions or activities that increase the risk of this. If carrying out an activity like riding a bicycle, it is important to wear a helmet to reduce the risk of injuries to the bones and eyes.
4. Do not push beyond your ability, especially when exercising alone. Start easy and gradual before progressing the duration and intensity of the exercise. If a child has been diagnosed with Marfan syndrome, having an adult around to guide and protect them is important. The child's school must be made aware and a risk assessment put in place to avoid any adverse events.
5. Finally, aim to make it an activity that is enjoyable. Since this is not a strenuous activity, to enjoy the benefits of the exercise it is best to do this 4-5 times a week, for at least 30 minutes. Stay hydrated and stop if you start to experience excessive tiredness, chest pain or any other new symptoms. 

Summary

Marfan syndrome is a genetic condition that affects the eyes, cardiovascular, and skeletal systems.

• Low-intensity, dynamic exercises are beneficial for people with Marfan syndrome
• A review with a doctor is important when considering different types of exercises
• It is recommended to select an exercise that is enjoyable, with a reduced chance of collision or injury