Children's Cardiology Insights

Marfan Syndrome: A Helpful Q&A for Families

Educational layout with multiple colored blocks summarizing Marfan syndrome characteristics
Genetic counselor reviewing information with a family during an appointment.
What is Marfan syndrome and how does it affect the body’s connective tissue?
Marfan syndrome is a genetic connective tissue disorder caused by a change in the FBN1 gene, which affects the body’s ability to make fibrillin‑1, a protein that helps connective tissue stay strong and flexible. Because connective tissue supports many parts of the body, Marfan syndrome can affect the heart, blood vessels, bones, eyes, lungs, and skin.
How does the condition affect the heart, specifically the aorta?

Marfan syndrome often involves the aorta, the large blood vessel that carries blood from the heart to the rest of the body. Weakened connective tissue in the aorta can lead to:

  • Aortic dilation (enlargement)
  • Aortic aneurysm (bulging of the aortic wall)
  • Aortic dissection (a tear in the aorta that requires emergency care)
The aortic root, the section closest to the heart, is the area most commonly affected. This is why regular heart monitoring is so important.
What is the most common way someone discovers they have Marfan syndrome?

Many people are diagnosed after a doctor notices features such as:

  • Tall stature with long arms, legs, or fingers
  • A curved spine
  • A chest that sinks in or sticks out
  • A heart murmur or aortic enlargement on an echocardiogram
  • Eye issues like lens dislocation or severe far-sightedness
Some people are diagnosed in childhood, while others may not receive a diagnosis until their teenage years or adulthood, often after symptoms progress or a family member is diagnosed.
Is Marfan syndrome always something a person is born with, or can it develop later in life?

Marfan syndrome is always present at birth, even if the signs take time to appear.

  • About 75% of people inherit it from a parent who is also affected.
  • About 25% have a new (de novo) mutation, meaning no one else in the family has it.
Symptoms can show up at any age, from infancy to adulthood, depending on which parts of the body are affected and how severely.
Why is it so important for someone with Marfan syndrome to see a cardiologist & a genetic counselor?
A cardiologist is essential because:
  • The most serious complications involve the aorta and heart valves and can warrant frequent monitoring.
  • Regular imaging (usually echocardiograms) helps track any changes early.
  • Medications or surgery can prevent life‑threatening complications.
A genetic counselor is essential because:
  • Marfan syndrome is autosomal dominant condition, meaning it can affect multiple members of a family.
  • Counselors help families navigate genetic testing, understand risks, and determine which relatives should be screened.
Together, these specialists create a long‑term plan that supports both medical care and family understanding.
What are the general guidelines for physical activity and exercise for individuals with this condition?
Most people with Marfan syndrome can, and should, be active, but with some modifications.
Safer activities include:
  • Walking
  • Light cycling
  • Swimming
  • Gentle, low‑impact exercise
Activities to avoid include IF a person has cardiac involvement:
  • Contact sports
  • Heavy weightlifting
  • High‑intensity or competitive sports
These activities can increase pressure on the aorta or risk of injury. A cardiologist can personalize activity recommendations based on a person’s aorta size, heart function, and overall health.
What are the standard “red flag” symptoms that indicate a Marfan patient may be experiencing a cardiac emergency?
Call 911 or seek emergency care immediately if someone with Marfan syndrome experiences:
  • Sudden, severe chest, back, or abdominal pain
  • A “tearing” or “ripping” sensation
  • Shortness of breath
  • Fainting or dizziness
  • Heart palpitations
  • Coughing up blood
These can be signs of an aortic dissection, which requires urgent medical treatment.
What is the most important piece of advice you give to families who have just received a Marfan diagnosis?

The most important message is: You are not alone, and with the right care, people with Marfan syndrome can live long, healthy, and fulfilling lives. I encourage families to:

  • Keep up with regular heart monitoring
  • Make sure all first‑degree relatives get screened
  • Build a multidisciplinary care team (cardiology, genetics, orthopedics, eye care)
  • Ask questions, stay informed, and take things one step at a time
A Marfan diagnosis can feel overwhelming at first, but modern treatment and monitoring have greatly improved outcomes and quality of life.
This blog was developed in partnership with Erin Demo, MS, CGC.
Related:

Aorta and Vascular Program Treats Kids with Rare Blood Vessel Diseases

Genetic Counselors Serve as Valuable Resource on a Heart Warrior’s Journey

Marfan Syndrome Program

 

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