Marfan Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Marfan Syndrome?
A cardiologist, a heart doctor, and a medical geneticist, a doctor who treats inherited conditions, often lead care for Marfan Syndrome. The team may also include an ophthalmologist, an eye doctor, and an orthopedist, a bone and joint doctor. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Marfan syndrome?
Marfan syndrome is a disorder that affects connective tissue. It gives strength and flexibility to bones, ligaments, muscles, blood vessels, and heart valves. Connective tissue is found throughout the body, so Marfan syndrome can affect the heart, blood vessels, eyes, bones, and joints.
The two main features are a dislocated lens in the eye and problems with the aorta, the large blood vessel that carries blood from the heart to the rest of the body. About 1 in 5,000 people worldwide have it.
Symptoms
Signs can appear anytime from infancy to adulthood. Common ones include:
- Being tall and slender, with long fingers and toes, loose joints, and an arm span longer than body height.
- A curved spine (scoliosis or kyphosis).
- A chest that sinks in or sticks out.
- Stretch marks not linked to weight gain or loss.
- Nearsightedness, which most people with Marfan syndrome have to some degree.
The aorta can weaken and stretch, which may cause a bulge called an aneurysm. Stretching of the aorta may also make the aortic valve leak. A stretched aorta can also tear. A sudden tear in the layers of the aorta wall is called aortic dissection. Aortic aneurysm and dissection can be life threatening. Leaky heart valves can cause tiredness. They can also cause skipped or extra heartbeats.
Other problems include a collapsed lung, cloudy lenses (cataract), and higher pressure in the eye (glaucoma).
Causes and who gets it
Changes in the FBN1 gene cause Marfan syndrome. This gene makes a protein called fibrillin-1, which helps give connective tissue its strength and flexibility. A change in the gene means less working protein is available.
The condition is inherited in an autosomal dominant pattern. This means one changed copy of the gene in each cell is enough to cause it. At least 25 percent of cases come from a new gene change in people with no family history of the disorder.
How doctors diagnose it
Doctors start with a physical exam. Eye exams can show a moved lens, a defect of the lens or cornea, or a detached retina. An echocardiogram, an ultrasound picture of the heart, is used to check the aorta and heart valves. A yearly echocardiogram or similar test checks the base of the aorta. Genetic testing for changes in the fibrillin-1 gene may be done in some people.
Treatment
Marfan syndrome has no cure. Treatments can help delay or prevent problems, especially when started early. The care team may include a primary care provider, a heart surgeon, a genetic counselor, and doctors for the heart, eyes, and bones and joints.
Your provider may recommend blood pressure medicines to relieve strain on the aorta. The most common are beta blockers or angiotensin receptor blockers (ARBs). Side effects may include feeling tired, lightheaded, or sick to the stomach. People may also need to change their activities to avoid injuring the aorta.
If the aorta is larger than normal, surgery may be advised to repair or replace part of it before it tears or ruptures. An aortic dissection or rupture needs emergency surgery. The aortic valve may also be replaced. Other surgeries and procedures may be used to repair severe scoliosis (with a brace or other device), a collapsed lung, a dislocated lens, or a detached retina. Pregnant women with Marfan syndrome must be monitored very closely.
When to see a doctor
If you have Marfan syndrome, see your provider at least once every year. Couples who have the condition and plan to have children may want to talk to a genetic counselor first.
Call 911 or go to the emergency room if you have chest pain or discomfort lasting for two minutes or more, difficulty breathing, fainting, or sudden, severe pain anywhere in the body. An aortic dissection can be life threatening.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Such a doctor can help arrange yearly heart checks, refer you to a heart doctor and an eye doctor, and help coordinate your care team over time.
Common questions
Can people with Marfan syndrome have a normal lifespan?
Yes, many can. With proper treatment, many people with Marfan syndrome have normal lifespans. Heart-related problems may shorten the lifespan in some people.
Is Marfan syndrome inherited?
Yes, in most cases it is passed down through families. One changed copy of the gene is enough to cause it. At least 25 percent of cases are new gene changes in people with no family history.
Can Marfan syndrome be cured?
No, Marfan syndrome has no cure. Treatments can help delay or prevent problems, especially when they are started early.
What is the most serious problem in Marfan syndrome?
Problems with the aorta are the most serious. The aorta can stretch and bulge, and a tear in its wall, called aortic dissection, can be life threatening.
Sources
- MedlinePlus Genetics - Marfan syndrome
- National Heart, Lung, and Blood Institute - Marfan Syndrome Treatment
- MedlinePlus - Marfan syndrome
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
