Living with Marfan syndrome
An inherited condition of connective tissue that can affect the heart, blood vessels, eyes, bones, and joints.
Understanding Marfan syndrome
Signs vary widely in severity and timing. The two main features are a dislocated eye lens and problems with the aorta, the body's largest blood vessel. People are usually tall and slender, with long fingers and toes, loose joints, and a long arm span. Heart valve leaks are also common.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Widened or bulging aorta (aortic aneurysm)
- Dislocated eye lens (ectopia lentis)
- Nearsightedness (myopia)
- Tall height with long, slender fingers
- Loose joints and flat feet
- Funnel chest (pectus excavatum)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists, bone and joint specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in FBN1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
The Marfan Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: The Marfan Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with The Marfan Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the FBN1 gene cause this condition. It is inherited in an autosomal dominant way, so a change in one copy of the gene can be enough.
Also known as: fbn1-related thoracic aortic aneurysms and aortic dissections; marfan syndrome type 1; marfan syndrome, classic; marfan syndrome, type 1; marfan syndrome, type i; marfan's disease
Patient organizations
- The Marfan FoundationMarfan syndrome · United States
- Marfan WorldMarfan syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Marfan syndrome.
Explore research for Marfan syndrome
Explore actively recruiting Marfan syndrome studies with HealthSpark.
Find actively recruiting studies for Marfan syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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