Pediatric Orthopedic surgeons who treat Marfan Syndrome

Marfan Syndrome

 

Marfan Syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor organs and other structures in a body. This condition most commonly affects the heart, eyes, blood vessels, and skeleton.

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Marfan Syndrome

Marfan’s Syndrome is a disorder that affects connective tissue. All of the body’s cells, organs, and tissue are joined by connective tissue and they are crucial for bodily development, growth, and stability. Since connective tissue occurs throughout the body, this condition can have an impact on a variety of body parts. Most frequently, the heart, blood vessels, bones, joints, and eyes are affected by this condition.

Patients present with long narrow limbs, skeletal abnormalities, cardiovascular abnormalities, and eye abnormalities. Marfan’s syndrome may affect the aorta.  This is the major blood channel that transports blood from the heart to the rest of the body.  When impacted and this can may be life-threatening. luckily, Intelligence is not affected by this condition.

Marfan syndrome affects around 1 in 5,000 individuals, including men, women, and children of all racial, ethnic, and cultural backgrounds. About 3 out of every 4 persons who have this condition inherit it, meaning they were born with the genetic mutation from a parent who also has it. However, some Marfan syndrome patients are the first in their families to have the condition, and doctors refer to this as a spontaneous mutation. A person with this condition has a 50 percent risk of passing the genetic mutation on to each child they have.

Why does Marfan Syndrome Occur?

The gene that codes for fibrillin and elastic fibers, two important parts of connective tissue, has a deficiency in people with Marfan syndrome. Fibrillin-1, or FBN1, refers to the name of this gene. Because the condition is primarily inherited, Marfan Syndrome typically runs in families. Doctors refer to the condition as “autosomal dominant” because a person can inherit the condition from only one parent who has Marfan syndrome.  The condition affects both men and women equally.

Due to the fact that not every person with Marfan syndrome experiences the same symptoms and that some people may have more severe symptoms, the hereditary illness refers to a term called a “variable expression.” For instance, if a baby is born with Marfan syndrome, they may or may not develop a lens dislocation.

How Is Marfan Syndrome Diagnosed?

Our practice gets the team involved in making the diagnosis and creating the treatment plan for Marfan syndrome patients because it can impact tissue throughout the body. Sometimes the pediatric orthopedic surgeon is the one who makes the diagnosis when a child is referred for a musculoskeletal complaint like knee pain. The doctors will obtain the patient’s medical history; a physical exam will take place to check for common Marfan syndrome symptoms; the doctors will ask lots of questions about current symptoms, and the doctors will seek information about any family members who may have experienced Marfan syndrome-related health issues. We may refer to other specialists for testing the heart or eyes.

Patients with Marfan’s syndrome may present with the following physical exam findings:

  • Dolichostenomelia (arm span greater than height (>1.05 ratio)
  • Arachnodactyly(long, thin toes and fingers)
  • Thumb sign- Tip of thumb extends beyond small finger when thumb clasped in palm under four fingers
  • Wrist sign- distal phalanges of thumb and small fingers overlap when wrapped around the opposite wrist
  • Ligamentous hyperlaxity
  • Scoliosis
  • Pes planus

 Orthopedic Findings:

  • Orthopedic conditions
  • Arachnodactyly (long, slender digits)
  • Scoliosis (50%)
  • Protrusio acetabuli (15-25%)
  • Ligamentous laxity
  • Recurrent dislocations (patella, shoulder, fingers)
  • Pes planovalgus
  • Dural ectasia (>60%)
  • Meningocele
  • Pectus excavatum or carinatum

 A symptom of Marfan Syndrome is dural ectasia.  Dural ectasia represents a bulging of the spinal column’s lining and can be seen by a CT or MRI scan. Although it frequently does not manifest any symptoms, some people may have back discomfort with it. Although it can also happen with other connective tissue illnesses, dural ectasia aids in the diagnosis of Marfan syndrome. Blood tests can aid in the identification of this condition by identifying the FBN1 gene. Because FBN1 blood test findings are not always clear-cut, a genetic expert should collaborate with the team. Blood tests can also identify other genetic abnormalities that cause physical symptoms comparable to Marfan syndrome, such as Loeys-Dietz syndrome.

Marfan Syndrome Treatment

Patients should see specialists like us at Medical City Children’s Orthopedics and Spine Specialists in order to receive the finest care for their children. Due to the various bodily systems that Marfan syndrome affects, our team can consist of the following specialists:

  • Geneticists
  • Orthopedic Surgeons
  • Cardiologists
  • Dental specialists
  • Eye specialists

A therapy strategy made for each patient will be initiated. Patients will require frequent follow-up visits with their doctor as well as routine cardiovascular, eye, and orthopedic checks throughout the development years. What is impacted will determine how your child is treated. For instance: Your child could require glasses, contacts, or even surgery to correct eye issues. Medication or surgery could become necessary for heart problems:

Medications

Currently, there are no drugs available to treat Marfan syndrome at the cellular or gene level. However, your doctor could advise your child to take a beta-blocker, which can lower blood pressure and sometimes slow or stop the expansion of the aorta. When a patient is still an adolescent or young adult, beta-blocker medication is often started.

How Long Will I Live if I Have Marfan Syndrome?

The late 1970s saw a boost in the life expectancy of those with Marfan syndrome. This was due to medical advancements, particularly cardiac surgery. The average lifespan in the past was 32 years. Today, some Marfan syndrome sufferers can survive until the age of 72. The condition can worsen and present several concerns; therefore, it is preferable to get a diagnosis when your child is young.

What is the Prognosis for Those with Marfan Syndrome?

The outlook for those who have Marfan syndrome has improved thanks to improved knowledge of the condition, earlier discovery, consistent follow-up treatment, and safer surgical methods.  Thanks to early diagnosis, adequate therapy, and long-term follow-up care provided by a skilled team of healthcare professionals, the majority of those with the disease today lead active, healthy lives and have life expectancies that are comparable to those of the general population.

What can I do if I Have Marfan Syndrome to Maintain the Best level of health?

Because Marfan syndrome can impact many body parts, it’s crucial to schedule regular meetings with medical professionals who can assist you with issues in the regions where your child’s body is impacted.

Routine Follow-up Appointments

Regular follow-up visits should include bone, eye, and heart checks, particularly during the growing years. The doctor will advise you about how frequently you will need to make an appointment.

Use caution with Exercise

Depending on the severity of the sickness and its symptoms, different activities are recommended. The majority of Marfan syndrome sufferers can engage in some sort of physical exercise or leisure activity. They should avoid high-intensity team sports, contact sports, and isometric workouts if they have an enlarged aorta. Inquire with our doctors about the best activities for your child. 

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