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Living and thriving with Marfan syndrome

Jonathan McGoey has endured many severe heart problems related to Marfan syndrome, including aortic enlargement and reconstruction. After his latest heart surgery, he’s enjoying life with his family and looks forward to adulthood.

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.

Repairing his enlarged aorta

Jonathan continued to visit Dr. Romano throughout his childhood so she could monitor the status of his heart via cardiac-imaging results.

"I kept a close eye on the size and growth of Mr. McGoey's aorta, as well as the function of his aortic and mitral valves," Dr. Romano said. She added that early in Jonathan's treatment, he began taking a medication that is believed to slow the progression of the aortic enlargement. He continues to take the medicine today.

By the time Jonathan turned 18, Dr. Romano knew his growth would require him to have surgery to adjust his aortic reconstruction, including replacing additional enlarged parts of the artery and his aortic valve. She believed it would be safest for an aortic surgery specialist to perform the operation, so she introduced the McGoey family to Derek Brinster, MD, director of aortic surgery at Northwell Health and of the health system's Center for Aortic Disease.

"Dr. Romano accompanied us to our first appointment with Dr. Brinster," Ms. McGoey said. "It was comforting to have her personally hand my son off to him - and we liked him right away. Jonathan just had one question: 'Are you sure you know what you're doing?' That was a funny moment for everyone."

quotation mark Jonathan has been through a lot, but he looks and feels good. He has a great outlook on life.
Patty McGoey

Senior prom and graduation

Dr. Brinster operated on Jonathan at Lenox Hill Hospital in July 2016. Jonathan's heart and aorta required extensive reconstruction because of his condition and previous surgery. Dr. Brinster repaired a hole in his heart and two of his valves and replaced his aorta from his heart to his head vessels. A heart-lung machine kept Jonathan's blood circulating and supplied his body with oxygen during the four-hour procedure.

"Jonathan has had a very nice cardiac result," Dr. Romano said. "Hopefully, it will serve him well for many years."

Jonathan is now continuing follow-up care with Dr. Romano. At her suggestion, he will transition to the care of an adult cardiologist who specializes in vascular disorders. That physician will focus on protecting Jonathan's aorta as much as possible with routine follow-up, monitoring and medication. After aortic surgery, medical management allows a reasonably normal life expectancy for most people with Marfan syndrome.

That is exactly what the McGoeys want: time to enjoy their life together as a family. Recent gratifying occasions include when the teen attended high school graduation and went to the senior prom.

"Jonathan has been through a lot, but he looks and feels good," Ms. McGoey said. "He has a great outlook on life."

Marfan syndrome symptoms

Marfan syndrome is a genetic variation that makes the body create irregular connective tissue. This can cause problems throughout the body, including the bones, the heart, the lungs and eyes, and the fluid-filled membrane that surrounds and protects the brain and spinal cord (the dura).

Those who have the syndrome are born with it, but Marfan might not show right away. Symptoms include:

  • Long and uneven arms, legs and fingers
  • Tall and thin build
  • Chest sinking in or protruding out
  • Flat feet
  • Flexible joints
  • Unusually curved spine
Find integrated care for aortic conditions at Northwell's Center for Aortic Disease:
Benefit from early diagnosis, clinical consultation and timely therapy with the Marfan Syndrome Program: