A genetic disorder that damages connective tissue
Connective tissue is made up of fibers that hold your body together and provide support to your heart and other structures. Marfan syndrome is result of a defect in the gene that allows your body to produce the protein that forms these connective tissues and causes abnormal elasticity or weakness in those tissues.
This syndrome can be mild or severe, depending on the connective tissue that is affected. Severe heart complications include:
- Valve malformations
One of four people with Marfan syndrome did not inherit the abnormal gene but instead developed the mutation spontaneously. Children with a parent with this condition have a 50 percent chance of inheriting the defective gene. If you or a family member has been diagnosed with Marfan syndrome, talk to your doctor about whether you should consider genetic testing.
What are the symptoms?
The symptoms of Marfan syndrome vary, even among family members, and depend on the severity of the condition. They can be present at birth or develop as you age. However, people with this condition often share some physical features, such as:
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Abnormally long arms, legs, or fingers
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Breastbone that is indented or protrudes outward
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Curved spine
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Flat feet
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Higher-than-normal roof of the mouth, causing the teeth to be crowded
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Long, narrow face
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Poor eyesight
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Tall, slender build
Tests
Marfan syndrome can resemble other disorders and often requires multiple specialties to assess your condition before a diagnosis can be made. If you are diagnosed with Marfan syndrome, your doctor may recommend regular echocardiograms to monitor abnormalities.
Angiogram (angiography)
An angiogram is a special X-ray taken as a special dye is injected through a thin, flexible tube called a catheter to detect blockages or aneurysms in blood vessels.
Arterial duplex ultrasound for arms and legs
Arterial duplex ultrasound uses doppler and traditional ultrasound to assess blood flow in the arteries of your arms and legs.
Computerized tomography (CT) scan
The cardiac computed tomography scan, or cardiac CT, uses X-rays to create three-dimensional images of your heart and blood vessels.
Echocardiogram
An echocardiogram uses high-frequency sound waves to create images of your heart.
Pulse volume recording
Pulse volume recording tests are used to evaluate blood flow through the arteries in your arms or legs.
Treatment
Although Marfan syndrome is a chronic (lifelong) condition, treatment options are available to minimize symptoms and prevent the serious complications of the disease. Your doctor will work with other specialties to develop a treatment plan for your unique set of heart symptoms and risks.
Aortic surgery
Aortic surgery describes a variety of procedures to treat conditions that affect the aorta.
Our providers
Location: Change location Enter your location
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Thelma Dianne Aguilar, AGACNP
Cardiac Surgery
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Ammar S Bafi, MD
Valvular Disease Cardiology, Structural Heart Disease Cardiology & Cardiac Surgery
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Keki Balsara, MD
Cardiac Surgery
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Brenda Jean Beckett, CRNP
Cardiothoracic Surgery
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Brian Thomas Bethea, MD
Cardiac Surgery
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Cierra Bruck, PA-C
Cardiac Surgery
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Ashley Chenoweth, AGACNP-BC
Cardiac Surgery
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Jeffrey E. Cohen, MD
Cardiac Surgery
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John V Conte, MD
Cardiac Surgery
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Laura Lee Cramer-Joyce, ANP-BC
Cardiac Surgery
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Susan L. Davis, ACNP-BC
Cardiac Surgery
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Dureaden Khan, PA
Cardiac Surgery
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Kenneth Mong Hung Lee, MD
Cardiology
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Thomas Edward MacGillivray, MD
Cardiac Surgery
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Elizabeth C. Sullivan, ANP-BC, CRNP
Cardiac Surgery
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Jonathan R. Gower, MD
Cardiothoracic Surgery
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Additional information
Genetic counseling and testing for heart conditions
Our cardiogenetics experts work to improve early detection and treatment for patients at risk for certain genetic heart conditions.
Ask MedStar Heart & Vascular Institute
Have general questions for our heart and vascular program? Email us at AskMHVI@medstar.net. If you have clinically-specific questions, please contact your physician’s office.