Marfan syndrome: Lifelong monitoring leads to a normal life

One in 5,000 Americans has Marfan syndrome, a genetic disorder causing the connective tissues that shape and support many parts of the body to be weaker than they should be. The syndrome is caused by a defect in a gene known as FBN1, which controls the structure of fibrillin-1, a protein that's an important part of the connective tissue in the body. As a result, the heart, blood vessels, lungs, bones, joints, eyes and skin can be affected.

A Marfan diagnosis can occur as early as birth or later into teen and even adult years. About 75% of children with Marfan syndrome have inherited the condition from a parent. In the other 25% of children, the gene mutates spontaneously for no apparent reason.

Many characteristics of Marfan can be visible as a child grows. Parents may notice their child is tall, thin with long arms, legs and double-jointed fingers. The torso, on the other hand, can be short, the spine curved or the chest sunk in. Overly crowded teeth, flat feet and unexplained stretch marks on the skin can also be signs of the syndrome.

But less visible and more dangerous can be Marfan's impact on the heart. A weakening of the aorta, the body's largest blood vessel, can put a child or adult at risk for further heart problems. Unfortunately, often the enlargement is not diagnosed until it is most acute. Other complications include aneurysms of the aortic root and leakage of the mitral valve. In some cases, these can be life-threatening. Medications or surgery may be required.

There is not a cure for Marfan syndrome, but early detection and treatment can delay or prevent complications. That's why parents who suspect their child has Marfan should have an evaluation completed by expert clinicians in the field as early as possible.

The new, state-of-the-art Chicago Marfan and Related Connective Tissue Disorder Program at the Chicagoland Children's Health Alliance brings together a team of experts to care for both children and adults with Marfan or Marfan-related syndromes. This program is in partnership with the Chicago Adult Congenital Heart Disease Alliance and joins physicians from multiple specialties, including cardiology, cardiovascular, orthopedic and general surgery, as well as ophthalmologists, behavioral pediatricians, educational specialists and mental health providers. They work collaboratively to comprehensively care for the entire family. Advanced treatments, procedures and research in the field are greatly improving long-term outcomes.

The good news is people with Marfan syndrome can lead normal lives. Lifelong monitoring ensures that the risks of the disease can be quickly recognized, diagnosed and treated effectively. For information, call (312) 674-2100.

• Children's health is a continuing series. Dr. Michael Earing is division director of pediatric cardiology, Chicagoland Children's Health Alliance. The alliance is a partnership between Advocate Children's Hospital, University of Chicago Medicine Comer Children's Hospital and Pediatrics at NorthShore University HealthSystem.