My message to the public is if you notice common findings of Marfan in yourself or your child, these need to be evaluated right away--especially with an eye or cardiology exam.
--Ronald Lacro, MD, director, Cardiovascular Genetics Program, Boston Children's Hospital
If you’ve learned that your child has been diagnosed with Marfan syndrome, you may be feeling overwhelmed. At Boston Children's Hospital , we know that living with a genetic disorder like Marfan syndrome can be difficult for children—and their parents.
An important first step in understanding what lies ahead is familiarizing yourself with the basics about Marfan syndrome.
A genetic disorder, usually hereditary
Marfan syndrome is a genetic disorder that causes connective tissues—which provide substance, shape and support to many parts of the body—to be weaker than they should be. Marfan often weakens the aorta (the blood vessel that carries blood away from the heart to the body), creating the risk of an aortic tear, leak or aneurysm.
- Marfan syndrome is a serious condition that can affect many parts of the body—including the heart and blood vessels, lungs, bones, joints, eyes and skin.
- The condition is congenital (present at birth), but may not be diagnosed right away; traits may be quite mild early in life and become more noticeable as your child grows.
- Marfan affects one out of 5,000 Americans, including infants, children and adults; it affects males and females of all races and ethnicities equally.
- About 75 percent of Marfan syndrome patients have inherited the condition from a parent.
- Children who have Marfan usually have a tall, thin stature with long arms, long double-jointed fingers, a short torso and very long legs.
They often have an abnormally shaped chest, which increases the risk of developing lung complications.
- The condition doesn’t affect your child’s intelligence.
- There’s no cure for Marfan, but treatments can help delay or prevent complications.
- Treatments can include medication, surgery/and or other therapies. With early diagnosis, proper treatment and careful management, children can live normal, healthy lives into adulthood.
How Boston Children's Hospital approaches Marfan syndrome
Boston Children’s Cardiovascular Genetics Program cares for patients and families affected by Marfan syndrome and other genetic disorders—and conducts research to develop better treatments for these conditions. Created in 1991 by Ronald Lacro, MD, a pediatric cardiologist and clinical geneticist, the program was one of the first of its kind. Today, its core staff includes pediatric and adult cardiologists, clinical geneticists, a genetic counselor, a nurse practitioner and a nurse.
As patients reach adolescence, their care is gradually transitioned when it is physically, emotionally and socially appropriate to Michael Singh, MD,an adult cardiologist within the Cardiovascular Genetics Program, with clinics available at both Boston Children's Hospital and Brigham and Women's Hospital Cardiovascular Center.
Because Marfan is a multi-system disorder, our program works closely with other subspecialists—including general surgeons, ophthalmologists, orthopedic surgeons, behavioral pediatricians, educational specialists, mental health providers and others.
Here at Boston Children’s, we provide Marfan syndrome patients—both children and adults—and their families with the latest diagnostics and innovative therapies in cardiology, genetics and related subspecialties. Our multidisciplinary experts work closely as a team to develop a customized treatment plan that meets all of your child's physical, emotional and social needs—and one that involves you and your family every step of the way.
Boston Children's scientific research program
Our scientific research program is one of the largest and most active of any pediatric hospital in the world. Our cardiovascular and cardiac surgery researchers are gaining and sharing crucial insights into the causes and development of heart disease. We’re paving the way for the most promising new treatments and interventions, with discoveries that could one day lead to cures. Learn more about our ongoing cardiology research efforts.
You don't have to be a child to be a Boston Children's Marfan patient
Boston Children’s can offer help to adults with Marfan syndrome, too. In fact, many adults who were patients as children continue to be monitored by the Boston Children’s clinicians who’ve followed them since childhood. If you’re an adult with Marfan syndrome—even if you weren’t treated at Boston Children’s as a child—and you’d like to know more, contact our Cardiovascular Genetics Program at 617-355-8794.
Marfan syndrome: Reviewed by Ronald Lacro, MD
© Boston Children’s Hospital, 2011