Marfan's Syndrome

Marfan’s syndrome is an inherited disorder that affects connective tissue. Marfan’s syndrome may disrupt the development and function of several areas of the body such as the heart, eyes, blood vessels, and skeletal system.

Marfan’s syndrome can cause particularly serious cardiac conditions when the tissue surrounding the heart and aorta is weak or not fully developed. This syndrome puts patients at a greater risk for developing an aortic aneurysm, aortic dissection, and valve malformations.

If you or your child has Marfan’s syndrome, it is normal to feel frightened about the disease and its treatment process. At Yale Cardiac Surgery, we take the time to answer all your questions and concerns in detail so that you can feel more comfortable in understanding the syndrome and treatment options.


Causes

Marfan’s syndrome is a genetic condition that is the result of an improperly developed gene that enables the body to produce the proteins that give connective tissue its strength. Most people inherit the abnormal gene from a parent who had the disorder.


Risk Facotrs

Marfan’s syndrome is a genetic disease. If your parent has Marfan’s syndrome, you are at increased risk of having the condition as well. If you have Marfan’s syndrome, your child is at risk for also having the condition. 


Symptoms

Symptoms of Marfan’s syndrome vary from patient to patient. The symptoms can range from mild to severe and tend to get worse with age. If you think you or your child has the syndrome, please contact your doctor or your child’s pediatrician. It is important to know that having any of the following symptoms does not mean that you or your child has Marfan’s syndrome.

Symptoms include:
  • Tall and slender build
  • Disproportionately long arms, legs, fingers, and toes
  • A protruding breast plate, either in or out
  • A high-arched palate and crowded teeth
  • Heart murmurs
  • Nearsightedness
  • Curved spine
  • Flat feet



Diagnostic Tests

The diagnosis of Marfan’s syndrome can be made by physical examination. Other tests are supplementary to the physical exam.

If our surgeons believe that you or your child may have Marfan’s syndrome, they may perform one or both of the following tests:

Genetic testing: This is a clear way for our surgeons to test for Marfan’s syndrome. It is also the best way for relatives to be tested for the syndrome to see what the chances are of passing Marfan’s syndrome to a child.

Imaging tests: Our cardiac surgeons may recommend imaging tests to get a clear look at the heart and check for Marfan’s syndrome or the possibility of another cardiac condition.


Treatment

If a patient with Marfan’s syndrome has an aorta that has enlarged quickly or reached a dangerous size, our cardiac surgeons may recommend that a portion of the aorta be replaced, as well as the aortic valve. At Yale Cardiac Surgery, our surgeons have extensive experience in surgical valve repair and replacement in both children and adults.

We understand that the thought of undergoing heart surgery can feel overwhelming. Our surgeons will review your surgical plan, in detail, so that you know what to expect before, during, and after your procedure. You can rest assured that you will be cared for by top surgeons internationally renowned for their innovative treatment strategies.