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Marfan Syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Genetics Birth Defects

Marfan Syndrome

Marfan syndrome is a disorder of the connective tissue caused by a mutation in the fibrillin gene, which can affect various systems throughout the body.

Overview

Marfan syndrome affects connective tissues—the proteins that support blood vessels, bones, skin, and other organs. The condition is caused by a problem with the fibrillin gene.

Symptoms

Because the condition affects connective tissue, symptoms can vary from mild to severe and may impact multiple areas of the body:

  • Physical stature: Individuals are often very tall, thin, and loose-jointed.
  • Cardiovascular: Weakness in the aorta or leaking heart valves.
  • Systemic: Potential issues with the eyes, bones, skin, lungs, and nervous system.

Diagnosis and Treatment

There is no single test for Marfan syndrome. Diagnosis is based on a combination of physical exams, personal medical history, and family history. While there is no cure, treatment can help manage the condition and prevent complications through:

  • Medicines
  • Surgery
  • Other supportive therapies

Frequently Asked Questions

Patients should generally avoid high-impact, contact, or isometric (static) sports such as weightlifting, football, or basketball, as these place sudden, high stress on the aorta. Low-impact aerobic exercises like walking, swimming, and cycling are typically safe and encouraged to maintain cardiovascular health. It is essential to consult with a cardiologist to create a personalized exercise plan based on the current size of the aorta.
The most critical emergency warning sign is sudden, severe chest or back pain, which may feel like a tearing sensation. This can indicate an aortic dissection, a life-threatening tear in the main artery. Other urgent signs include sudden shortness of breath, fainting, or a sudden change in vision. If these symptoms occur, call emergency services immediately.
Marfan syndrome is an autosomal dominant disorder, meaning only one copy of the mutated gene is needed to cause the condition. If one parent has Marfan syndrome, there is a 50 percent chance that each child will inherit the mutation. However, the severity of symptoms can vary widely even within the same family, a phenomenon known as variable expressivity. Genetic counseling is recommended for family planning.
Pregnancy increases the workload on the heart and aorta, raising the risk of aortic dilation or dissection. Women with Marfan syndrome require high-risk obstetric care, including regular echocardiograms to monitor aortic size. Beta-blockers are often continued or adjusted to control heart rate and blood pressure. In some cases, where the aorta is significantly enlarged, pregnancy may be contraindicated due to the high risk of rupture.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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