Marfan Syndrome

• Marfan syndrome (MFS) is a genetic disorder that affects the body’s ability to make healthy connective tissue.
• Unhealthy connective tissue may lead to problems of development with bones, muscles, organs, and tissues of the body.
• Other areas that may be affected include bones, ligaments, tendons, cartilage, and skin.
• People inherit the disorder from their parents¹ ; or 3 out of 4 cases.
• Some people with Marfan syndrome are the first in the family to have it due to a spontaneous mutation.
• 1 in 5,000 people has Marfan syndrome.
• Affects men and women and all races and ethnic groups.² 
• Cognitive ability is usually within the typical range of the general population.³ 
• Treatment depends on the extent and areas affected and may include medications, other treatments, and surgery.
• General management includes health management: regularly seeing a doctor, seeking help from a mental health professional, eating healthy, and avoiding smoking.¹ 

Symptoms

• Abdominal pain.
• Arms, legs, fingers, and toes are much longer in relation to the rest of the body.
• Chest that caves in or sticks out.
• Curved spine.
• Flat feet.
• Headaches.
• Heartbeat that feels like it is skipping a beat, fluttering, or beating too hard or too fast.
• Highly arched mouth that can lead to crowding of teeth.
• Loose joints.
• Long, narrow face.
• Low back pain and numbness in the legs.
• Shortness of breath due to changes in the lungs or heart.
• Stretch marks on the skin.
• Vision changes, such as blurry vision and extreme nearsightedness.⁴ 

Complications

• Loose and painful joints
• Scoliosis
• Convex and concave chest
• Heart problems
• Cataracts
• Glaucoma
• Low self-esteem⁵ 

Neonatal Marfan Syndrome

• Children who have characteristics of Marfan Syndrome at the time of birth as well as significant cardiovascular involvement in early infancy.
• Often involves long extremities and fingers, joint laxity and contractures, characteristic facial appearance, loose skin, poor feeding, breathing difficulties, and cardiac prolapse and leakage through the valves that can lead to heart failure.
• Often a severe case on the spectrum but also depends on the features of the individual components.
• Has early-onset and rapidly progressive features related to the heart, lungs, and airways.⁶ 

Impact on Occupations

• Many can live normal lives but may need to adapt their lifestyle to minimize the associated risks.
• Adults, e.g., parents and teachers need to be aware of the condition and make accommodations where necessary.
• Students may struggle with disappointment or feel left out from participating in play, sports, or leisure activities.
• Students often spend more time on medical appointments and tests.
• Additional time may be spent due to surgery, physical rehabilitation, and other types of treatment, e.g., psychosocial.
• Students may miss time from school, school-related activities, and socialization participation.
• Students may get unwanted attention based on their appearance, e.g., height.⁷ 
• In general, students report “difficulties in keeping up with peers” (sports, leisure, friendship and relationships).
• Leisure activities may be exhausting for students.
• Schoolwork and work may be difficult due to the physical demands.
• Students may avoid social activities (‘standing out’) with peers due to low self-image.⁸ 

Outcome Measures

• Borg RPE Scale (Fatigue) ⁹ 
• Brief Pain Inventory (BPI) ¹⁰ 

Occupational Therapy

• May have an Individualized Education Plan (IEP) as required by the Disabilities Education Act (IDEA).
• May have a 504 Plan for special accommodations in school.
• May receive special education and related services.
• School goals: independence in the school setting, increased acceptance and self-esteem, increased knowledge of the disease process, utilize coping skills, prevention of additional physical injury, and communication effectively with the team.
• Address fatigue and pain.
• Address restrictions on lifting, e.g., books and backpacks.
• Provide an alternative to strenuous activities to not exceed excessive heart rate or blood pressure.
• Adjust the schedule to allow for rest.
• Allow additional time to get to classes.
• Utilize assistive technology to minimize physical exertion.
• Modify the PE curriculum or provide an alternative to PE class.
• Provide accommodations for seating and comfort.
• Minimize long-distance walking.
• Address handwriting; limit the need for handwriting.
• Prevent joint muscle fatigue and joint injuries.
• Provide ongoing support for wheelchair accessibility, seating, and function.
• Address possible psychosocial implications and body image issues.
• Provide large print assignments, tests, and books.
• Materials should have good contrast.
• Be understanding of absences due to medical treatments.
• Ensure access to an emergency inhaler for asthma.
• Allow extra time to complete assignments due to symptoms such as headaches.
• Provide interventions to promote medication compliance.
• Be aware and educate staff about the signs of medical emergencies: aortic dissection, spontaneous pneumothorax (collapsed lung), detached retina, and psychological emergencies.
• Provide opportunities to practice self-monitoring techniques.
• Instruct in safe levels of intensity and duration.
• Instruct on relaxation techniques, safety, and therapeutic breathing.
• Improve eye-hand and eye-foot coordination, and visual tracking.
• Improve fine motor, gross motor, balance, spatial, and body awareness.
• Ensure orthotics are properly worn and provide suitable padding.
• Modify the environment to ensure safety, proper padding, no obstacles or hazards (soft), and proper illumination.
• Use brightly colored objects with good contrast.
• Familiarize the student with the play area first.⁷ 
• Refer to the appropriate health professional based on specific needs.

EBP

• Online self-management programs may help with being autonomous in treatment.¹¹ 
• Individuals suffering from body image issues may benefit from treatments designed to improve other quality of life domains.¹² 
• A systematic review found anxiety or depression to be commonly mentioned for people with MFS.¹³ 

Exercise

• Warm-up and cool-down.
• Monitor the student closely.
• Non-competitive is better.
• Divide activities in multiple sessions with breaks.
• Stay at about 50% aerobic level.
• Encourage students to ask for help, e.g., carrying heavy objects.
• Avoid isometrics, e.g., weightlifting, pull-ups.
• Multiple repetitions with low resistance or weight is better than few repetitions with a larger weight.
• Do not test the student’s limits.
• Avoid rapid changes in atmospheric pressure, e.g., scuba diving and flying.⁷ 

General Precautions

• Some career choices may be restricted.
• Certain sports should be avoided, e.g., contact sports.
• Avoid long-distance running.
• Avoid heavy weightlifting.
• Avoid gymnastics.
• Avoid climbing.
• Avoid scuba diving.
• Avoid activities that place a strain on the joints to minimize the risk of joint injury.
• Avoid activities that can place a strain on the heart and increase the risk of aortic tears.⁵ 

1. National Institute of Arthritis and Musculoskeletal and Skin Diseases. (2020). Marfan Syndrome: Points To Remember About Marfan Syndrome. Retrieved from https://www.niams.nih.gov/health-topics/marfan-syndrome[↩][↩]
2. The Marfan Foundation. (n.d.). WHAT IS MARFAN SYNDROME? Retrieved from https://www.marfan.org/about/marfan[↩]
3. Tinkle, B. T., & Saal, H. M. (2013). Health supervision for children with Marfan syndrome. Pediatrics, 132(4), e1059-e1072.[↩]
4. National Institute of Arthritis and Musculoskeletal and Skin Diseases. (2020). What are the symptoms of Marfan syndrome? Retrieved from https://www.niams.nih.gov/health-topics/marfan-syndrome#tab-symptoms[↩]
5. NHS. (2019). Treatment: Marfan Syndrome. Retrieved from https://www.nhs.uk/conditions/marfan-syndrome/treatment/[↩][↩]
6. The Marfan Foundation. (n.d.). WHAT IS NEONATAL MARFAN SYNDROME? Retrieved from https://www.marfan.org/marfan-related-conditions/neonatalmarfan[↩]
7. National Marfan Foundation. (n.d.). Marfan Syndrome: Need-to-Know Information for the Teacher. Retrieved from https://www.genetikzentrum.ch/view/userfiles/files/MFS_need2know.pdf[↩][↩][↩]
8. Warnink-Kavelaars, J., Beelen, A., Goedhart, T. M., de Koning, L. E., Nollet, F., Alsem, M. W., … & Engelbert, R. H. (2019). Marfan syndrome in adolescence: adolescents’ perspectives on (physical) functioning, disability, contextual factors and support needs. European journal of pediatrics, 178(12), 1883-1892.[↩]
9. Dennison, A. D., & Certo, C. (2006). Exercise for Individuals with Marfan Syndrome. Cardiopulmonary Physical Therapy Journal (American Physical Therapy Association, Cardiopulmonary Section), 17(3).[↩]
10. Nelson, A. M., Walega, D. R., & McCarthy, R. J. (2015). The incidence and severity of physical pain symptoms in Marfan syndrome. The Clinical journal of pain, 31(12), 1080-1086.[↩]
11. Adolescents’ transition to self-management of a chronic genetic disorder.
    Giarelli E, Bernhardt BA, Mack R, Pyeritz RE Qual Health Res. 2008 Apr; 18(4):441-57.[↩]
12. Body image and adolescence: A behavioral impairment model. Senín-Calderón C, Rodríguez-Testal JF, Perona-Garcelán S, Perpiñá C Psychiatry Res. 2017 Feb; 248():121-126.[↩]
13. Nielsen, C., Ratiu, I., Esfandiarei, M., Chen, A., & Tierney, E. S. S. (2019). A review of psychosocial factors of Marfan syndrome: adolescents, adults, families, and providers. Journal of pediatric genetics, 8(03), 109-122.[↩]