Like many relatively recent college graduates, Jane Lee wasn't always on top of her doctor's appointments. She was young and had just run a half marathon, so she assumed she was in good health.
But as Lee trained for her first full marathon alongside her fraternal twin sister, she realized something was wrong. Her sister was able to run longer and faster than Lee despite their equally long training hours.
"In the last two years, my mileage was increasing a lot, and that was when I started noticing," Lee said. "She was running a lot faster and a lot farther. I thought, maybe it's because I have a heart condition."
When Lee was a baby, her mother noticed she sometimes turned blue, prompting doctors to diagnose her with a congenital heart defect called tetralogy of fallot. Lee was born with a hole in her heart, which caused the oxygen levels in her blood to drop.
Lee had a surgery to fix the hole and subsequently had a normal childhood in Los Angeles full of sports and the occasional check-up at the cardiologist's office. But when she moved to New York City after college, finding a general practitioner took a back seat to everything else in her life until she was about 25, when she noticed her athletic progress had slowed.
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"I kind of forgot about the fact that I ever had a heart condition," she said. "I was never really limited at sports."
So Lee eventually found a general practitioner, who referred her to Dr. Doff McElhinney, a cardiologist at NYU Langone Medical Center. McElhinney ordered a stress test, an echocardiogram and several other tests before Lee got a diagnosis: She needed a pulmonary valve replacement, which is open heart surgery.
And she needed it soon.
"I really wasn't expecting that because I had been so healthy," she said. "I wasn't that winded during the half [marathon]."
Congenital heart defects occur in about 1 percent of live births, McElhinney said, adding that their severity can vary greatly. A congenital heart defect, or congenital heart disease, just refers to a heart abnormality the patient was born with. Some congenital heart defects require surgery within a few days of birth, but others can go unnoticed until middle age.
McElhinney said patients in their 20s and 30s who, like Lee, had congenital heart problems and surgeries as children often failed to continue seeing cardiologists until they get to him. McElhinney specializes in cardiac catheterization, which involves inserting a flexible tube, or sheath, into a blood vessel in the arm or groin, and pushing the sheath toward the heart to perform diagnostic tests.
"People who had surgery in the 1980s and then went to college may have been told when they were young that they're not going to need anything done," he said. "They went off to college and somehow got out of the care of a cardiologist."
Although the surgeries to correct heart malformations were (and are still) very good, that doesn't mean they're permanent repairs, McElhinney said. Replacement valves, for instance, don't last forever.
Problems that can arise from an untreated heart defect include pulmonary hypertension, which can cut off blood to the lungs; cardiac arrhythmias, which are irregular heart beats; an infection of the heart lining; and congestive heart failure.
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