Marfan Syndrome

What is Marfan Syndrome?

Marfan Syndrome is an inherited condition that results in problems with the connective tissues that bind the parts of the body together. Children usually inherit it from either parent, but up to 25% of cases arise from spontaneous genetic mutations not linked to a hereditary cause.

Marfan syndrome can become life-threatening depending on how much your connective tissue is affected. A lack of internal support leads to heart, lung, organ, and skeletal damage over the years.

What are the Symptoms of Marfan Syndrome?

Although patients are born with this condition, it’s usually detected in childhood or adolescence. People with the condition tend to develop distinct features.

Features include

  • Unexplained stretch marks
  • A skeletal system longer and taller than usual
  • A thin frame
  • Unusual spinal curvatures on either axis
  • Flat feet
  • Overcrowded teeth, narrow jaws, and a misshapen bite pattern
  • Joints that are uncomfortably flexible or prone to popping
  • A sunken or bowed chest

Marfan Syndrome Causes

Genetics is the most common cause of Marfan syndrome. The mutated gene affects a protein changing the characteristics and formation of the body’s connective tissues. It’s an abnormality in the protein called fibrillin-1 leading to overgrown bones, resulting in longer limbs and extreme height.

At least one parent is the carrier of this inherited trait known as an autosomal dominant transmission with a fifty percent chance of passing the defective gene to the offspring. The risks to the offspring rise to seventy-five percent chance of being born with the condition. Some instances, parents may be carriers with no signs of the disorder.

In rare cases, neither parent is a carrier, yet the defect occurs. The mutation occurred at the time of conception caused by defective egg or sperm cells. In this situation, the defect is limited to the single child and not passed on to siblings.

All families inheriting this trait share the same connective tissue characteristics, but the range of the condition varies – the attribute refers to a variable expression.

How is Marfan Syndrome Treated?

Aside from the effects on the skeletal system, Marfan syndrome reduces the structure of the heart valves and major blood vessels. This can lead to ruptures or collapses that threaten the life of the patient. Blindness can also occur from a lack of regeneration of key proteins.

Surgery is necessary to repair damage to the heart and circulatory system. Medication to manage high blood pressure and reduce the speed of the heart can prevent ruptures and collapses in patients with particularly weak hearts. Many people only need orthopedic support to prevent joint damage and counseling on exercising safely and prevent secondary organ damage.

Marfan Syndrome Prevention

There is no cure for Marfan syndrome. Medical treatments can prevent the complications linked to this genetic disease. If your family has a history and you are planning to conceive children, you need to talk with your doctor.

There are tests capable of disclosing the risk levels to the unborn offspring. Your doctor may recommend testing the newborn, since the symptoms may not show at birth, but could appear later in life with serious complications. The more you learn about this order, the better prepared you are to discuss preventive methods with your doctor.

Regular checkups for monitoring any changes to the condition are preventive actions. Always talk with your doctor before taking any medication that could aggravate any underlying conditions.

Last Reviewed:
October 07, 2016
Last Updated:
March 05, 2018