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Serious, potentially life-threatening genetic condition that affects the body’s connective tissue. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes.

Cause: gene FBN1 mutation, either inherited or spontaneously.

Chromosome 15

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FBN1 mutation results in an increase in a protein called transforming growth factor beta, or TGF-β. —> more tissue

Fibrillin 1 protein is dysfunctional or less abundant —> low tissue integrity and elasticity

Affects the integrity of tissue throughout the body

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Marfan Syndrome - causes, symptoms, diagnosis, treatment, pathology

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Can be vary

Tall and slender build

Disproportionately long arms, legs and fingers

A breastbone that protrudes outward or dips inward

A high, arched palate and crowded teeth

Heart murmurs

Extreme nearsightedness

An abnormally curved spine

Flat feet

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Medical and family history

Physical examination

Other testing:

-Echocardiogram: measures blood vessels

-Genetic testing

-Eye examination, Slit-lamp: lens abnormalities

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The thumb protrudes beyond the edge of the clenched fist

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Having a parent with the disorder

Affect men and women equally

All race and ethnic groups

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Induction of precocious puberty in tall girls by age 10 with estrogens and progesterone —> reduce adult height

Beta-blockers —> prevent cardiovascular complications

Elective aortic repair and valve repair

Bracing and surgery for scoliosis

Yearly or frequent doctor appointments

Prognosis

Cardiac and vascular complications are the most dangerous

Life expectancy has increased from 30’s-40’s to 70’s

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No specific protocols

Musculoskeletal issues

Stretching, strengthening, modalities for pain, fabricating, orthotics

Education

Advising the risk and benefit of exercises

Safe level of exercise: low-intensity, low-impact

Risk to the cardiovascular system->avoid competitive contact sports

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Genetic Aortic Disorders Association Canada:

https://www.gadacanada.ca/marfan-syndrome/

BC children’s hospital:

https://www.bcchr.ca/childrens-heart-centre-research/contact-us

Support groups:

https://www.gadacanada.ca/online-forum

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1 in 3000-5000 in Canada and US

75% inherit it from a parent

25% spontaneous mutation (first in their family)

50% chance the child inherit

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1. Marfan Syndrome. (n.d.). Physiopedia. https://www.physio-pedia.com/Marfan_Syndrome

2. Marfan syndrome - Symptoms and causes - Mayo Clinic. (2023, January 11). Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/symptoms-causes/syc-20350782

3. Marfan Syndrome - Marfan Foundation. (2022, October 6). Marfan Foundation. https://marfan.org/conditions/marfan-syndrome/

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What are the Key Features of Marfan Syndrome? Marfan syndrome and related conditions affect the body’s connective tissue. Connective tissue holds the body together and plays a role in its growth and development. Because connective tissue is found throughout the body, Marfan syndrome and related disorders can affect many parts of the body, including the […]