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Diagnosis & Treatment

Marfan Syndrome

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How is Marfan Syndrome Diagnosed?

Diagnosis

Marfan syndrome can be difficult to diagnose because of the wide variety of symptoms it can cause, and its similarity with connective tissue disorders. Usually, a combination of family and medical history, clinical evaluation, and testing can confirm and diagnose Marfan syndrome.

Tests a medical provider may perform to help confirm a Marfan syndrome diagnosis include:

  • Family history. Reviewing any heart, muscular or skeletal problems in other members of a child’s family will help their doctor make connections and recognize patterns that may lead to a diagnosis.
  • Echocardiogram. An echocardiogram uses sound waves to create an image of the heart, which a medical provider can examine to identify any problems with the aorta
  • Slit-lamp examination. A doctor can perform this test to look for a dislocated ocular lens, a common symptom of Marfan syndrome
  • Clinical examination: An examination of the proportions and other physical features can reveal signs of Marfan syndrome
  • Genetic testing. Checking for a mutation in the Fibrillin-1 (FBN1) gene can confirm a diagnosis of Marfan syndrome. The majority of children diagnosed with the disorder have a mutation in this gene.

How is Marfan Syndrome Treated?

Treatment

There is currently no cure for Marfan syndrome. Treating Marfan syndrome focuses on managing symptoms and preventing complications through medical management. Treatment varies based on the areas of the body affected by the disorder and the severity of the symptoms.

Medications

Your child’s provider may prescribe drugs to lower blood pressure and help reduce stress on the aorta, which is a frequently affected structure in patients with Marfan’s disease.

Surgery

In cases of severe complications, surgery may be required. Surgical intervention to treat Marfan syndrome may be used to correct a torn or displaced retina in the eye, correct severe scoliosis, or repair a damaged aorta.

Therapy

Glasses and contact lenses can be used to correct vision problems, and a brace can be used to stop the progression of scoliosis. Physical therapy can help strengthen joints and improve flexibility in those with Marfan syndrome. Counseling and support groups may help patients with the emotional impacts of living with Marfan syndrome.

Lifestyle changes

People with Marfan syndrome may have to avoid certain sports and recreational activities. Contact sports and activities that place high stress on the heart can include rugby, heavy weightlifting, long-distance running, scuba diving, and football.

FAQs

FAQs

Marfan syndrome is rare, occurring in about 1 in every 5,000 people.

Thanks to advances in medical intervention and treatment, the life expectancy for those with Marfan syndrome is comparable to the general population. Monitoring the symptoms over time is important to maintain a good prognosis.

Marfan syndrome is an autosomal dominant condition caused by a mutation in one copy of the FBN1 gene.

Get Care

Trust NewYork-Presbyterian for Marfan Syndrome Treatment

Marfan syndrome can affect various body systems and organs, from the heart to the eyes. NewYork-Presbyterian’s pediatric team comprises many specialists, each of whom can provide focused and compassionate treatment for the symptoms of Marfan syndrome. Our experts consider each child’s unique case when deciding on a care plan, and ensure you are involved with the process every step of the way.