In April 2003, Patty and Timothy McGoey noticed their 4-year-old son would run out of breath quickly while he played in their Ronkonkoma home. When Ms. McGoey took him to Angela Romano, MD, a pediatric cardiologist at Cohen Children's Medical Center, the diagnosis blindsided her: Jonathan has Marfan syndrome.
"I seemed to temporarily lose my hearing when I heard the news, as if I were in a cartoon," Ms. McGoey said. "I was totally shocked and upset. I'd never heard of Marfan syndrome, and I couldn't imagine what was going to happen."
Marfan syndrome is a genetic condition that causes faulty connective tissue throughout the body. A common complication is enlargement of the aorta (the body's largest artery, which carries blood away from the heart). An enlarged aorta is at risk for tears in the inner lining. It can also rupture or dissect, which are life-threatening developments.
Severe heart problems related to Marfan syndrome do not usually occur until adulthood, according to Dr. Romano. But Jonathan's case is severe, so significant cardiac problems had already begun.
Days after diagnosis, Jonathan underwent surgery at Cohen Children's to replace his aorta and repair the mitral valve, another affected part of his heart. The 11-hour surgery bought him years of time.