Marfan Syndrome

Marfan syndrome is a genetic disorder that affects the body’s connective tissues.

Connective tissues provide support and structure to various organs and tissues in the body.

Marfan syndrome is an uncommon condition affecting about 1 in 5000 people.

Connective tissue is found throughout the body. This means that Marfan syndrome can affect many different parts of the body. Severe, life-threatening effects of Marfan syndrome can appear in the heart and blood vessels, including the aorta.

Learn more about Marfan syndrome, including its definition, causes, symptoms, diagnosis, treatment, and potential risks and complications.

What is Marfan syndrome?

Marfan syndrome is an inherited disorder that affects the body’s connective tissues, leading to abnormalities in the heart, blood vessels, eyes, bones, and joints. The condition is caused by a mutation in the FBN1 gene, which encodes the protein fibrillin-1—an essential component of connective tissue. Marfan syndrome affects people differently, with some experiencing mild symptoms while others have severe, life-threatening complications.

Causes of Marfan syndrome

Genetic mutation

• FBN1 gene mutation: Marfan syndrome is primarily caused by mutations in the FBN1 gene, which provides instructions for making the protein fibrillin-1. This protein is crucial for the formation and function of connective tissues throughout the body.

Inheritance

• Autosomal dominant inheritance: Marfan syndrome is inherited in an autosomal dominant pattern, meaning only one copy of the mutated gene is needed to cause the disorder. A person with Marfan syndrome has a 50% chance of passing the mutated gene to their offspring.
• Spontaneous mutations: In some cases, Marfan syndrome occurs due to new mutations in the FBN1 gene, with no family history of the disorder.

Symptoms of Marfan syndrome

Cardiovascular system

• Aortic aneurysm and dissection: Weakness in the connective tissue of the aorta (the main artery that carries blood from the heart) can lead to an aneurysm or dissection, which are life-threatening conditions.
• Heart valve abnormalities: Problems with the heart valves, such as mitral valve prolapse, can cause irregular heartbeats and other complications.

Musculoskeletal system

• Tall stature and long limbs: Individuals with Marfan syndrome often have disproportionately long arms, legs, fingers, and toes.
• Skeletal abnormalities: Common skeletal features include scoliosis (curvature of the spine), pectus excavatum (sunken chest), and pectus carinatum (protruding chest).
• Joint hypermobility: Increased flexibility and instability of the joints can lead to dislocations and other joint issues.

Ocular system

• Lens dislocation: The lens in the eye may shift out of its normal position (ectopia lentis), leading to visual disturbances.
• Near-sightedness (myopia): Individuals with Marfan syndrome are often severely near-sighted.
• Retinal detachment: The risk of retinal detachment is higher in individuals with Marfan syndrome.

Respiratory system

• Lung complications: Weakened connective tissues can lead to spontaneous pneumothorax (collapsed lung) and sleep apnea.

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Diagnosis of Marfan syndrome

Medical history and physical examination

• Symptom assessment: Detailed inquiry about the presence, duration, and severity of symptoms affecting the cardiovascular, musculoskeletal, ocular, and respiratory systems.
• Physical examination: Comprehensive examination to identify characteristics associated with Marfan syndrome, such as skeletal abnormalities, joint hypermobility, and ocular features.

Diagnostic tests

• Genetic testing: Analysis of the FBN1 gene to identify mutations associated with Marfan syndrome. Genetic testing can confirm the diagnosis and identify at-risk family members.
• Echocardiogram: An ultrasound of the heart to assess the aorta and heart valves, looking for abnormalities such as aneurysms or valve prolapse.
• MRI or CT scan: Advanced imaging techniques to visualize the aorta and other blood vessels, helping to detect aneurysms or dissections.
• Eye examination: A thorough eye exam by an ophthalmologist to check for lens dislocation, retinal detachment, and other ocular issues.

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Treatment of Marfan syndrome

Medical management

• Medications: Beta-blockers or angiotensin receptor blockers (ARBs) to reduce stress on the aorta and lower blood pressure, helping to prevent aortic dilation and dissection. Other medications may be prescribed to manage symptoms such as pain or inflammation.
• Monitoring and regular check-ups: Routine monitoring of the heart, aorta, and other affected organs to detect and manage complications early.

Surgical treatment

• Aortic repair surgery: Surgical intervention to repair or replace the aorta when it becomes dangerously enlarged or dissected.
• Heart valve surgery: Procedures to repair or replace damaged heart valves, improving heart function and reducing symptoms.
• Orthopedic surgery: Corrective surgeries for severe skeletal deformities, such as scoliosis or pectus excavatum.

Lifestyle modifications

• Activity restrictions: Avoiding high-impact sports and strenuous physical activities that can put additional strain on the heart and aorta.
• Healthy diet and weight management: Maintaining a healthy weight to reduce stress on the cardiovascular system and joints.
• Regular exercise: Engaging in low-impact exercises, such as swimming or walking, to promote overall health and well-being.

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Supportive care

• Emotional and psychological support: Counseling and support groups to help individuals and their families cope with the challenges of living with Marfan syndrome.
• Educational support: Providing information and resources to help patients and their families understand the condition and manage symptoms effectively.

Potential risks and complications

Cardiovascular complications

• Aortic dissection or rupture: Life-threatening conditions that require immediate medical attention.
• Heart failure: Resulting from aortic and valve abnormalities, leading to impaired heart function.

Skeletal complications

• Progressive scoliosis: Worsening curvature of the spine that may require bracing or surgery.
• Joint dislocations: Increased risk of joint dislocations due to hypermobility.

Ocular complications

• Permanent vision loss: Due to retinal detachment or other severe eye problems.

Respiratory complications

• Spontaneous pneumothorax: Sudden collapse of the lung, requiring urgent medical intervention.
• Sleep apnea: Requiring appropriate management to improve quality of sleep and overall health.

Marfan syndrome is a complex genetic disorder that affects multiple systems in the body. Early diagnosis, careful monitoring, and appropriate treatment are crucial for managing symptoms and preventing complications. If you or a loved one are affected by Marfan syndrome, consulting with a specialized medical team will help develop a personalized care plan tailored to your specific needs and circumstances.