Marfan Syndrome

Our physicians know how to help you monitor and manage your health in all areas of the body impacted by this condition

Marfan syndrome is a genetic disorder that affects the connective tissue throughout your body. IU Health physicians operate the only clinics in the state dedicated to treating Marfan syndrome.

Marfan syndrome occurs in one of every 5,000 births, according to the National Institutes of Health. Your eyes, skin, lungs, blood vessels, spinal cord and skeletal system all contain connective tissue. When something goes wrong with your connective tissue, these organs and systems weaken, and can lead to serious problems.

Cause

A mutation in a gene called fibrillin-1 (FBN1) causes Marfan syndrome. This gene tells your cells how to make fibrillin, a protein that is a part of the connective tissue that protects your organs, stores energy and allows your skin to return to its original position when stretched. About 75 percent of the time, you inherit the mutated gene from a parent with the condition.

Symptoms

Often, with age, your symptoms of Marfan syndrome increase which may include:

  • Dislocated lenses in the eyes
  • Enlarged aorta
  • Scoliosis
  • Sunken or protruding chest
  • Tall and skinny
  • Long arms and legs

Diagnosis

Physicians have detailed criteria for diagnosing Marfan syndrome. You must have two or more symptoms to receive a diagnosis of the syndrome.

Receiving the diagnosis puts you at risk for serious cardiovascular (heart) conditions. You may also have problems with your eyes or skeletal health. Physicians at IU Health know how to help you monitor and manage your health in all the areas of the body impacted by this condition.

Overview

Marfan syndrome occurs in one of every 5,000 births, according to the National Institutes of Health. Your eyes, skin, lungs, blood vessels, spinal cord and skeletal system all contain connective tissue. When something goes wrong with your connective tissue, these organs and systems weaken, and can lead to serious problems.

Cause

A mutation in a gene called fibrillin-1 (FBN1) causes Marfan syndrome. This gene tells your cells how to make fibrillin, a protein that is a part of the connective tissue that protects your organs, stores energy and allows your skin to return to its original position when stretched. About 75 percent of the time, you inherit the mutated gene from a parent with the condition.

Symptoms

Often, with age, your symptoms of Marfan syndrome increase which may include:

  • Dislocated lenses in the eyes
  • Enlarged aorta
  • Scoliosis
  • Sunken or protruding chest
  • Tall and skinny
  • Long arms and legs

Diagnosis

Physicians have detailed criteria for diagnosing Marfan syndrome. You must have two or more symptoms to receive a diagnosis of the syndrome.

Receiving the diagnosis puts you at risk for serious cardiovascular (heart) conditions. You may also have problems with your eyes or skeletal health. Physicians at IU Health know how to help you monitor and manage your health in all the areas of the body impacted by this condition.

Physicians in the clinic at Riley Hospital for Children at Indiana University Health deliver diagnosis and multidisciplinary treatments to children and adults, including genetic counseling and testing.

Living with Marfan syndrome means paying special attention to your heart, eye and skeletal health. IU Health Medical Genetics physicians and genetic counselors act as your primary care providers, collaborating with other doctors on a care program that maximizes your quality of life.

Cardiovascular Symptoms and Treatments

Possible heart conditions and available treatment options associated with Marfan syndrome include:

  • Aortic dissection
  • Abdominal aortic aneurysm
  • Beta blockers
  • Mitral valve prolapse

Eye Symptoms and Treatments

Possible eye conditions that may arise and treatment options associated with Marfan syndrome include:

Skeletal Symptoms and Treatments

Problems in the bones and joints and treatment options associated with Marfan syndrome include:

  • Scoliosis
  • Kyphosis
  • Breastbone deformities
  • Pectus excavatum (sunken chest)
  • Pectus carinatum (protruding chest)
  • Foot problems
  • Spondylolisthesis
  • Back and limb pain
  • Dural ectasia
  • Protrusio acetabulae

Treatment

Physicians in the clinic at Riley Hospital for Children at Indiana University Health deliver diagnosis and multidisciplinary treatments to children and adults, including genetic counseling and testing.

Living with Marfan syndrome means paying special attention to your heart, eye and skeletal health. IU Health Medical Genetics physicians and genetic counselors act as your primary care providers, collaborating with other doctors on a care program that maximizes your quality of life.

Cardiovascular Symptoms and Treatments

Possible heart conditions and available treatment options associated with Marfan syndrome include:

  • Aortic dissection
  • Abdominal aortic aneurysm
  • Beta blockers
  • Mitral valve prolapse

Eye Symptoms and Treatments

Possible eye conditions that may arise and treatment options associated with Marfan syndrome include:

Skeletal Symptoms and Treatments

Problems in the bones and joints and treatment options associated with Marfan syndrome include:

  • Scoliosis
  • Kyphosis
  • Breastbone deformities
  • Pectus excavatum (sunken chest)
  • Pectus carinatum (protruding chest)
  • Foot problems
  • Spondylolisthesis
  • Back and limb pain
  • Dural ectasia
  • Protrusio acetabulae

Patient Stories for Marfan Syndrome

National Marfan Foundation

This national foundation fosters research, education and patient support for those living with Marfan syndrome.

National Heart, Lung, and Blood Institute

This division of the National Institutes of Health promotes the prevention and treatment of heart, lung and blood diseases, including Marfan syndrome. The site offers information about diagnosis, treatments, living with the condition and available clinical trials.

Genetics Home Reference

This website from the U.S. National Library of Medicine offers consumer information about genetic conditions like Marfan syndrome, and the genes and chromosomes related to those conditions.

Resources

National Marfan Foundation

This national foundation fosters research, education and patient support for those living with Marfan syndrome.

National Heart, Lung, and Blood Institute

This division of the National Institutes of Health promotes the prevention and treatment of heart, lung and blood diseases, including Marfan syndrome. The site offers information about diagnosis, treatments, living with the condition and available clinical trials.

Genetics Home Reference

This website from the U.S. National Library of Medicine offers consumer information about genetic conditions like Marfan syndrome, and the genes and chromosomes related to those conditions.