Marfan Syndrome
Marfan Syndrome refers to 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 refers to 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 with this condition have 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 the aorta may cause a life-threatening situation. Doctors have found that intelligence remains normal for those 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, it 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 the gene. 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. Furthermore, the symptoms for each child with this condition appear differently from others with the condition.
QUESTIONS AND ANSWERS
What constitutes Marfan syndrome, and what identifies it in children?
Marfan syndrome refers to a genetic disorder that affects the body’s connective tissues, including those in the heart, blood vessels, bones, joints, and eyes. Doctors find the following characterized and range of features, including:
- Tall and Slender Build: Children with Marfan syndrome may become taller than their peers and have long arms and legs.
- Joint Hypermobility: Increased joint flexibility or hypermobility appears common, leading to conditions like joint dislocations or scoliosis.
- Cardiovascular Issues: Marfan syndrome can lead to heart and blood vessel problems, such as aortic aneurysms and mitral valve prolapse.
- Ocular Issues: Eye problems, including myopia (nearsightedness) and dislocated lenses, are common.
How is Marfan syndrome diagnosed in children, and what is the role of genetic testing?
- Diagnosis: Diagnosis of Marfan syndrome involves a thorough evaluation by a healthcare provider, typically a pediatric geneticist or cardiologist, who considers the child’s clinical features, family history, and physical examination. Imaging studies, such as echocardiograms and genetic testing, may also confirm the diagnosis.
- Genetic Testing: Genetic testing can identify mutations in the FBN1 gene, which causes Marfan syndrome. Genetic Testing often confirms Marfan syndrome when the clinical diagnosis does not confirm the condition. However, a negative genetic test does not rule out Marfan syndrome, as other genes may cause the problem.
What is the management and treatment for children with Marfan syndrome?
- Management: Management of Marfan syndrome in children often involves a multidisciplinary approach and may include:
- Regular Medical Monitoring: Children with Marfan syndrome require regular check-ups with a healthcare provider to monitor their heart, eyes, and musculoskeletal health.
- Medications: Doctors may prescribe medications, such as beta-blockers or angiotensin receptor blockers to manage cardiovascular issues and reduce the risk of aortic complications.
- Surgery (if necessary): If the aorta becomes enlarged or there is a risk of dissection, doctors may recommend surgery to repair or replace the affected portions.
- Orthopedic Management: Orthopedic concerns like scoliosis or joint problems may require management, which could include bracing or surgical correction.
- Eye Care: Regular eye exams and corrective lenses are essential to manage visual issues.
The doctors and surgeons will tailor Management and treatment plans to each child’s specific needs and the severity of their condition. Early diagnosis and ongoing care are essential to address potential complications and improve the child’s quality of life.
If your baby is born with Marfan Syndrome, call us and our team will help your baby
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 doctors use CT or MRI scans to identify dural ectasia. 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
Doctors will develop a therapy strategy for each individual patient. 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.
Why Schedule an Appointment with Medical City Children’s Orthopedics and Spine Specialists
The Medical City Children’s Orthopedics and Spine Specialists has been providing Treatment and Care for children with inherited medical conditions like Marfan Syndrome for many years. We focus on improving the long-term health of children. If your child is in pain as a result of an inherited medical condition, call one of our compassionate experts at 214-556-0590 to schedule an appointment with us. Finally, we offer personalized treatment and urgent pediatric care services at all of our four locations — Arlington, Dallas, Flower Mound, Frisco, and McKinney, TX. If you notice any symptoms that disturb you in your child, don’t hesitate to contact us to avoid complications.
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Footnote:
National Organization of Rare Disorders: Marfan Syndrome
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