Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together which plays an important role in helping the body grow and develop properly. It this tissue is damaged, many body systems are affected, including the heart, blood vessels, bones, tendons, cartilage, eyes, nervous system, skin and lungs.
People with Marfan syndrome are usually tall and thin with disproportionately long arms, legs, fingers and toes. The damage caused by Marfan syndrome can be mild or severe. If your heart or blood vessels are affected, the condition can become life-threatening.
How common is Marfan syndrome?
About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnic groups. About 3 out of 4 people with Marfan syndrome inherit it. But some people with Marfan syndrome are the first in their family to have it; when this happens it is called a spontaneous mutation. There is a 50 percent chance that a person with Marfan syndrome will pass along the genetic mutation each time they have a child.
Causes of Marfan syndrome:
Marfan syndrome is caused by a defect in the gene that encodes the structure of fibrillin and the elastic fibers, a major component of connective tissue. This gene is called fibrillin-1 or FBN1.
In most cases, Marfan syndrome is inherited. The pattern is called “autosomal dominant,” meaning it occurs equally in men and women and can be inherited from just one parent with Marfan syndrome. People who have Marfan syndrome have a 50 percent chance of passing along the disorder to each of their children.
In 25 percent of cases, a new gene defect occurs due to an unknown cause. Marfan syndrome is also referred to as a “variable expression” genetic disorder, because not everyone with Marfan syndrome has the same symptoms to the same degree. Marfan syndrome is present at birth. However, it may not be diagnosed until adolescence or young adulthood.
Signs and Symptoms of Marfan syndrome:
Sometimes Marfan syndrome is so mild, few if any, symptoms occur. In most cases, the disease progresses with age and symptoms of Marfan syndrome become noticeable as changes in connective tissue occur. The symptoms of Marfan syndrome differ from one person to the next, depending on which body part is affected and to what degree. Symptoms may include:
- Thin, long fingers and toes
- Sunken or protruding chest
- Long, narrow face, Scoliosis
- Family history of the condition
- Enlarged aorta, mitral valve prolapsed
- Loose and flexible joints, often prone to dislocation
- Proportionately small lower jaw and narrow, highly arched palate
- Usually, tall lean stature with disproportionate long arms and legs
- Visual problems, such as nearsightedness (myopia) or dislocation of the ocular lens
Diagnosis of Marfan syndrome:
Gene testing is not readily available, but can be organised for some families who meet the diagnostic criteria. A specific collection of major characteristic features must be present to establish the syndrome. A confirmed diagnosis requires coordinated evaluation by a cardiologist, ophthalmologist, orthopaedic surgeon and geneticist, all experienced with the Marfan syndrome. The condition is diagnosed using a number of tests, including:
- Genetic data
- Eye examination
- Physical examination
- Skeletal tests such as x-rays
Treatments for Marfan syndrome:
Treatment usually includes medications to keep your blood pressure low to reduce the strain on weakened blood vessels. Depending on the severity of your symptoms and the part of your body that’s affected, surgery may be necessary.
Marfan’s syndrome can’t be cured. Treatments typically focus on lessening the impact of various symptoms.
Seek counsel from our Heart Doctors in Houston if you suspect you are suffering from Marfan syndrome for the best treatment options for you.
Visit us at: www.Advancedcardiodr.com |Call on: +1 281-866-7701.