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. Body cells, organs, and tissues 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 people who have this condition inherit it. This means that 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. 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.
Because not every person with Marfan syndrome experiences the same symptoms, and some people may have more severe symptoms, the hereditary illness is referred to a term called “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. In recent years, surgical techniques have advanced to help avoid replacing the aortic valve with a mechanical one—thus sparing children from a lifetime of blood-thinning medications like warfarin, which carry additional risks in Marfan syndrome. Instead, surgeons aim to preserve the patient’s valve or use a biological replacement, reducing the need for long-term anticoagulants and minimizing bleeding complications during or after surgery. Additionally, newer methods such as open anastomosis for the ascending aorta now involve shorter periods where blood circulation is temporarily stopped (using hypothermic circulatory arrest), which helps protect cells and improve recovery. Even so, as children grow and Marfan syndrome progresses, more surgical interventions may sometimes be needed.
- 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.
Because Marfan syndrome can affect the aorta and other connective tissues, ongoing monitoring is crucial. Patients should have an annual diagnostic test—either a computed tomography (CT) scan with contrast or a magnetic resonance imaging (MRI) with contrast—to keep a close watch on the aorta’s size and integrity. This proactive approach helps us catch changes early and tailor treatment as your child grows.
By working together and using regular advanced imaging, we can help manage Marfan syndrome’s risks and support your child’s health at every step.
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- The Tip of the thumb extends beyond the small finger when the thumb is clasped in the palm under the four fingers
- Wrist sign- distal phalanges of thumb and small fingers overlap when wrapped around the opposite wrist
- Ligamentous hyperlaxity
- Scoliosis
- Pes planus
Marfan Syndrome 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 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 patient. Patients will require frequent follow-up visits with their doctor as well as routine cardiovascular, eye, and orthopedic checks throughout the developmental 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 for Marfan Syndrome
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.
In addition to beta-blockers, other medications such as ACE inhibitors may also be recommended to help manage blood pressure. Keeping systolic blood pressure within a safe range—generally between 105 and 110 mm Hg during normal activities—helps reduce the force on the aorta and lowers the risk of aortic tears or ruptures. Medical treatment is ongoing and may involve using two or even three medications to effectively control high systolic blood pressure.
The primary goals of these medications are to protect the heart and blood vessels. In addition, they are to minimize the risk of complications like aortic tears, and support overall cardiovascular health. By closely monitoring blood pressure and adjusting treatment as needed, doctors can help reduce the risk of serious medical events. For instance, strokes or heart attacks in children and adolescents with Marfan syndrome.
How Often Should Individuals with Marfan Syndrome Have Echocardiograms?
Regular monitoring of the heart and aorta is crucial for individuals with Marfan syndrome. Typically, doctors recommend an echocardiogram (an ultrasound of the heart) each year to check for changes in the size of the aorta and assess overall heart health. If your child’s aorta begins to enlarge—especially if it exceeds 3.5 centimeters in diameter—these echocardiograms may be performed every six months to closely track any progression and promptly address potential complications. This ongoing vigilance helps guide timely treatment decisions and ensures the safest possible outcomes for your child.
Risks and Benefits of Mechanical vs. Biological Aortic Valves
For children with Marfan syndrome who require aortic surgery, the choice between mechanical and biological aortic valves carries important risks and benefits to consider.
- Mechanical Valves:
Historically, surgeons often replaced the aortic valve with a mechanical version, which can last for many decades. However, patients with a mechanical valve need to take anticoagulant medications (like warfarin) daily to prevent blood clots from forming on the valve. These medications help prevent stroke and other complications, but they do thin the blood, making it harder for the body to stop bleeding—an especially important concern if another surgery is needed in the future, or if the aorta tears. Injuries and certain activities can become riskier due to the increased bleeding tendency, and patients require ongoing blood tests to monitor medication levels. - Biological (Tissue) Valves and Valve-Sparing Procedures:
Newer surgical techniques focus on preserving the patient’s valve or using a valve made from animal tissue. The major advantage here is that lifelong anticoagulation is usually not required. This reduces the risks associated with bleeding and makes follow-up care easier, especially for young patients with active lifestyles. Biological valves can last a decade or more, but they may eventually need to be replaced as they wear out.
Ultimately, your child’s care team—including cardiac surgeons and cardiologists—will help you weigh these options. Modern approaches aim to avoid routine use of mechanical valves in children with Marfan syndrome whenever possible because of the challenges of lifelong anticoagulation, balancing those risks with the long-term durability of each valve type.
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 the doctors. These medical professionals can assist parents with issues in the regions where your child’s body is impacted.
Routine Follow-Up Appointments for Marfan Syndrome in Children
Schedule Regular Medical Visits: Children with Marfan syndrome need routine checks for bones, eyes, and heart, especially during growth spurts.
Monitor Heart Health Frequently: Doctors will recommend how often your child needs appointments based on age, symptoms, and medical history.
Use Medication to Manage Blood Pressure: Children often need two or three medications daily to control high systolic blood pressure.
Prevent Serious Complications with Proper Care: Controlling blood pressure reduces the risk of aortic rupture, stroke, or heart attack.
Work Closely with Your Care Team: Your child’s medical team will suggest the best treatment and regularly check their heart function.
Follow Up for Better Long-Term Health: Regular appointments and strict treatment adherence improve quality of life for children with Marfan syndrome.
Healthy Lifestyle and Diet Tips for Marfan Syndrome
Support Wellness with Healthy Habits: Good habits like healthy eating and staying active can help your child avoid surgery and manage symptoms.
Make Smart Food Choices: Choose meals with fruits, vegetables, whole grains, and lean protein to protect heart and bone health.
Avoid Salt and Processed Foods: Processed, salty foods raise blood pressure and may increase the risk of heart complications.
Keep a Healthy Weight: Maintaining a healthy weight supports the heart and reduces pressure on joints and bones.
Stay Active with Doctor’s Approval: Moderate, safe exercise helps control blood pressure and boosts your child’s physical and emotional wellness.
Best Exercises for Children with Marfan Syndrome
Adjust Activities Based on Risk: Activity recommendations depend on the severity of your child’s Marfan syndrome and symptoms.
Most Children Can Stay Active: Many children can participate in low-impact, doctor-approved physical and recreational activities.
Avoid High-Risk Sports: Children with enlarged aortas should not play contact sports, high-intensity games, or do isometric exercises.
Get a Personalized Activity Plan: Ask your care team for a list of the safest and most beneficial activities for your child.
Stick to Low-Impact Workouts: Walking, swimming, or cycling are safe ways to stay active and improve cardiovascular health.
Support Blood Pressure Control: Exercise helps manage blood pressure, reducing strain on the heart and blood vessels.
Improve Healing and Strength: Gentle workouts promote faster healing, stronger muscles, and a healthier lifestyle.
Consult Doctors Before Starting Exercise: Always ask your child’s doctor before beginning any new physical activity plan.
Why Family Members Need Evaluation for Marfan Syndrome
Genetic Risk Means Family Screening Is Essential: Marfan syndrome runs in families, even when symptoms are not obvious.
Undiagnosed Relatives May Be at Risk: A family member could carry the gene and face serious heart or vascular problems.
Early Detection Saves Lives: Doctors can spot heart issues early through imaging and prevent complications.
Proactive Screening Improves Outcomes: Early diagnosis allows for treatment planning and lifestyle changes to reduce health risks.
Protect Both Children and Adults: Evaluating all family members helps ensure everyone receives appropriate care and support.
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 five locations — Arlington, Dallas, Flower Mound, Frisco, and McKinney, TX. If you notice any symptoms that disturb 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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