Marfan Syndrome Overview
Learn About Marfan Syndrome
Marfan syndrome is a disorder of connective tissue. This is the tissue that strengthens the body's structures.
Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin.
Aortic aneurysm - Marfan
Marfan syndrome is caused by variants in a gene called fibrillin-1. Fibrillin-1 plays an important role as the building block for connective tissue in the body.
The gene variant also causes the long bones of the body to grow too much. People with this syndrome have tall height and long arms and legs. How this overgrowth happens is not well understood.
Other areas of the body that are affected include:
- Lung tissue (there may be a pneumothorax, in which air can escape from the lung into the chest cavity and collapse the lung)
- The aorta, the main blood vessel that takes blood from the heart to the body may stretch or become weak (called aortic dilation or aortic aneurysm)
- The heart valves
- The eyes, causing cataracts and other problems (such as a dislocation of the lenses)
- The skin
- Tissue covering the spinal cord
- The joints
In most cases, Marfan syndrome is passed down through families (inherited). However, up to 30% of people have no family history, which is called "sporadic." In sporadic cases, the syndrome is believed to be caused by a new gene change.
People with Marfan syndrome are often tall with long, thin arms and legs and spider-like fingers (called arachnodactyly). The length of the arms is greater than height when arms are stretched out.
Other symptoms include:
- A chest that sinks in or sticks out, called funnel chest (pectus excavatum) or pigeon breast (pectus carinatum)
- Flat feet
- Highly arched palate and crowded teeth
- Hypotonia of muscles (low muscle tone)
- Joints that are too flexible (but the elbows may be less flexible)
- Learning disability
- Movement of the lens of the eye from its normal position (dislocation)
- Nearsightedness
- Small lower jaw (micrognathia)
- Spine that curves to one side (scoliosis)
- Thin, narrow face
Many people with Marfan syndrome suffer from chronic muscle and joint pain.
Vision problems should be treated when possible.
Monitor for scoliosis, especially during the teenage years.
Medicine to slow the heart rate and lower blood pressure may help prevent stress on the aorta. To avoid injuring the aorta, people with the condition may have to modify their activities. Some people may need surgery to replace the aortic root and valve.
Pregnant women with Marfan syndrome must be monitored very closely because of the increased stress on the heart and aorta.
Patricia Rompf is a Pediatric Cardiologist and a Cardiologist in Providence, Rhode Island. Dr. Rompf and is rated as an Advanced provider by MediFind in the treatment of Marfan Syndrome. Her top areas of expertise are Arachnodactyly, Marfan Syndrome, and Tricuspid Atresia.
Lifespan Physician Group Inc
Aaron Weisbord is a Cardiologist in Providence, Rhode Island. Dr. Weisbord and is rated as an Experienced provider by MediFind in the treatment of Marfan Syndrome. His top areas of expertise are Atrial Fibrillation, Adenosine Deaminase 2 Deficiency, Coronary Heart Disease, and Atherosclerosis.
Lifespan Physician Group Inc
Joseph Wyllie is a Cardiologist in Pawtucket, Rhode Island. Dr. Wyllie and is rated as an Experienced provider by MediFind in the treatment of Marfan Syndrome. His top areas of expertise are Familial Ventricular Tachycardia, Arrhythmias, Heart Attack, Angioplasty, and Pacemaker Implantation.
More information and support for people with Marfan syndrome and their families can be found at:
- The Marfan Foundation -- marfan.org
Heart-related complications may shorten the lifespan of people with this disease. However, many people live into their 60s and beyond. Good care and surgery may further extend lifespan.
Complications may include:
- Aortic regurgitation
- Aortic rupture
- Bacterial endocarditis
- Dissecting aortic aneurysm (also called aortic dissection)
- Enlargement of the base of the aorta
- Heart failure
- Mitral valve prolapse
- Scoliosis
- Vision problems
Couples who have this condition and are planning to have children may want to talk to a genetic counselor before starting a family.
Spontaneous new gene variants leading to Marfan syndrome (less than one third of cases) cannot be prevented. If you have Marfan syndrome, see your provider at least once every year.
Summary: The goal of this observational study is to learn about the impact of Marfan syndrome (MFS) in paediatric affected subjects. the main questions it aims to answer are: * The assessment of quality of life in MFS Italian patients; * The impact of phenotypic manifestations on self-image and self-management skills; * Stratify patients according to the need of psychological support. Participants will tak...
Summary: Rare diseases (RDs) have been defined by the European Union (EU) as life-threatening or chronically debilitating conditions affecting less than 1 person in 2000. RDs are complex and often need special treatments, thus combined efforts are required to address them to improve diagnosis, care and prevention. To date, over 6.000 RDs are known and most of them are \"orphans\". T...
Published Date: May 08, 2024
Published By: Thomas S. Metkus, MD, Assistant Professor of Medicine and Surgery, Johns Hopkins University School of Medicine, Baltimore, MD. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
Doyle JJ, Dietz HC. Marfan syndrome. In: Kliegman RM, St. Geme JW, Blum NJ, et al. eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 743.
Madan-Khetarpal S, Arnold G, Ortiz D. Genetic disorders and dysmorphic conditions. In: Zitelli BJ, McIntire SC, Nowalk AJ, Garrison J, eds. Zitelli and Davis' Atlas of Pediatric Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 1.
Pyeritz RE. Inherited diseases of connective tissue. In: Goldman L, Cooney KA, eds. Goldman-Cecil Medicine. 27th ed. Philadelphia, PA: Elsevier; 2024:chap 239.