Marfan syndrome is an inherited disorder that affects connective tissue, which supports and anchors your organs and other structures in your body. Because connective tissue is such an integral part of your body, Marfan syndrome may disrupt development and function in several sites. Most common are your heart, eyes, blood vessels and skeleton.
People with Marfan syndrome are usually tall and thin with disproportionately long arms, legs, fingers and toes. Marfan syndrome is caused by a dominant gene, which means one of your parents also has the gene and passed it to you.
The signs and symptoms of Marfan syndrome vary greatly, even among members of the same family. Some people experience only mild effects, but others develop life-threatening complications. In most cases, the disease tends to worsen with age.
Marfan syndrome features may include:
When to see a doctor
Marfan syndrome is caused by a defect in the gene that enables your body to produce a protein that helps give connective tissue its elasticity and strength.
Most people with Marfan syndrome inherit the abnormal gene from a parent who has the disorder. Marfan syndrome is an autosomal dominant condition, which means that a defective gene from only one parent is needed to pass the disease on. It also means that each child of an affected parent has a 50-50 chance of inheriting the defective gene.
Autosomal dominant inheritance pattern
In an autosomal dominant disorder, the mutated gene is a dominant gene located on one of the nonsex chromosomes (autosomes). You only need one mutated gene to be affected by this type of ...
Marfan syndrome affects men and women equally and occurs among all races and ethnic groups. Because it's a genetic condition, the greatest risk factor for Marfan syndrome is having a parent with the disorder.
Because Marfan syndrome can affect almost any part of your body, it may cause a wide variety of complications.
Complications of pregnancy
Although the risk of dissection during pregnancy is unpredictable, it's generally low if your aorta isn't enlarged before you become pregnant. But if your aorta is even slightly enlarged, the risk increases greatly. Pregnancy isn't recommended if your aorta is enlarged.
Aortic dissection occurs when a partial tear in the main artery of your heart (aorta) causes a separation (dissection) of the layers of the aortic wall. ...
Preparing for your appointment
Marfan syndrome can affect many different parts of your body, so you may need to see a variety of medical specialists, such as:
Appointments can be brief. To make the best use of the limited time, plan ahead and have important information available, including:
What to expect from your doctor
Tests and diagnosis
Marfan syndrome can be challenging for doctors to diagnose because many connective tissue disorders have similar signs and symptoms. And even among members of the same family, the signs and symptoms of Marfan syndrome vary widely — both in their features and in their severity.
Certain combinations of symptoms and family history must be present to confirm a diagnosis of Marfan syndrome. In some cases, a person may have some features of Marfan syndrome, but not enough of them to be diagnosed with the disorder.
Diagnostic tests may include:
Tests for blood relatives
Treatments and drugs
In the past few decades, treatment advances to prevent aortic ruptures have allowed many people with Marfan syndrome to live a near-average life span. Researchers are working to develop more-targeted treatment approaches for Marfan syndrome, and the outlook for this condition continues to improve.
While no treatment exists yet for Marfan syndrome itself, therapy focuses on preventing the various complications of the disease. For that reason, the treatment you receive will depend on the nature and severity of your symptoms.
Two main approaches exist for treating cardiovascular complications:
Lifestyle and home remedies
Depending on your risk of heart, eye or skeletal complications, your doctor may recommend that you avoid competitive sports and certain recreational activities.
Coping and support
Living with a genetic disorder can be extremely difficult for both adults and children. Adults who receive a diagnosis later in life may wonder how the disease will affect their careers, their relationships and their sense of themselves. And they may worry about passing the defective gene to their children.
But Marfan syndrome can be even harder on young people, especially because the often-inherent self-consciousness of childhood and adolescence may be exacerbated by the disease's effect on appearance, academic performance and motor skills.
Providing emotional, practical support
For most young people, though, cosmetic concerns are at least as important as academic ones. Parents can help by anticipating these concerns and offering solutions: contact lenses instead of glasses; a brace for scoliosis; dental work for crowded teeth; and clothes that flatter a tall, thin frame.
In the long run, accurate information about the disease, good medical care and strong social support can help both children and adults cope with Marfan syndrome.
Last Updated: 2010-08-06
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