Marfan Syndrome

What is Marfan Syndrome?

Marfan syndrome is a rare genetic disorder. Marfan syndrome is a malformation of Chromosome 15, specifically the part of it that is used by your body to manufacture connective tissue.

In the Marfan syndrome, the chemical makeup of the connective tissue isn't normal. The abnormal chemical makeup causes the connective tissue structures to be more weak and less stiff than normal.

Once a person has been diagnosed with Marfan syndrome regular visits with a cardiologist are needed.

How is Marfan Syndrome transmitted?

Marfan syndrome is inherited from your parents.

What is Connective Tissue?

Connective tissue provides substance and support to tendons, ligaments, blood vessel walls, cartilage, heart valves and many other structures.

Marfan Syndrome can also be caused by "spontaneous mutation". This means that you will have Marfan syndrome even though you did not inherit it from your parents. This occurs in about 30% of people who have Marfan Syndrome.

Symptoms of Marfan Syndrome

Some of the most common symptoms of Marfan syndrome are:

1. Long limbs, fingers, and toes, and arm span exceeding height, tall, thin stature (lanky or gangly stature) Narrow and/or a sharp-featured face. Prominent stretch marks. Caved-in or pushed-out breastbone (also called pectus excavatum and pectus carinatum). Very loose and injury-prone joints. Decreased elasticity of lung tissue, which causes a collapsed lung.
2. A weak and rupture-prone aorta and poor functioning heart valves.

How is Marfan syndrome Treated?

Different people have different types of problems from Marfan syndrome and different types of treatment are needed for different people. Depending on your problem, some of the common treatments are: medication to lower heart rate and/or blood pressure, antibiotics and surgery.

What Is the Outlook for a Person With Marfan Syndrome?

Marfan syndrome is a lifelong disorder. Early diagnosis and advances in medical technology have improved the quality of life for people with Marfan syndrome and lengthened their lifespan. With early diagnosis and appropriate management, the life expectancy for someone with Marfan syndrome is similar to that of the average person.