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Following the Trail of Broken Hearts
DAVID EPSTEIN
December 10, 2007
A congenital cardiovascular abnormality has become a leading killer of young athletes in the U.S. So why isn't more being done to save those who have it?
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December 10, 2007

Following The Trail Of Broken Hearts

A congenital cardiovascular abnormality has become a leading killer of young athletes in the U.S. So why isn't more being done to save those who have it?

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Perhaps those future patients will have had HCM diagnosed with absolute certainty through their genes at the nearby Harvard-Partners Center for Genetics and Genomics, where each week researchers identify a new HCM mutation, of which more than 800 are currently known. For $3,000 the center can pop the blood of a living person (or a deceased one, if a medical examiner is astute enough to freeze a sample) in what looks like an oversized gray microwave and find out if that individual got HCM from any of the currently known mutations.

And once a mutation is identified in one member of a family, other members can be tested for the same mutation—at $250 apiece. That's what Jimmy Kogut's three younger siblings are doing. A 21-year-old junior at Pittsburgh, Jimmy spent his leisure time playing basketball and lifting weights until last December, when tests revealed that he had HCM; eight months later genetic screening found that he has one of the most common HCM mutations, on a gene that helps to regulate heart contraction. Jimmy's mother, Eileen, had long known that something dangerous ran in her family. Her brother Joe, then 15, died at the dinner table in 1978 while horsing around with Mark, his older brother. Mark died 20 years later, at age 37, while running on a treadmill.

Because of her family history, Eileen had Jimmy's heart checked regularly from the time he was three, and everything seemed fine. At seven Jimmy complained of shortness of breath and was told that he had asthma. Fatigue and shortness of breath, even fainting, are common symptoms of HCM, and a misdiagnosis of asthma is also common. This can be especially hazardous because asthma inhalers can cause irregular heartbeats in people with HCM.

Jimmy now knows that he never had asthma. He has HCM, and he got his gene mutation from his mother, along with his hazel eyes and freckles. An HCM mutation follows a hereditary pattern known as autosomal dominant: In other words, it has a 50-50 chance of passing from parent to offspring. Those who inherit the gene will each have a 50-50 chance of passing it on to their children, and so on down the family tree. Those who do have it may, like Jimmy, undergo surgery, have a defibrillator implanted and give up intense exercise for good. "I can still do some light weightlifting," he says, "but nothing over my head or that stresses my left side too much so that it might damage the ICD." As more families submit to genetic testing and the list of mutations grows, the Harvard-Partners Center is keeping an eye toward categorizing which are deadly (and demand an ICD and cessation of vigorous sport) and which are relatively harmless (and might permit life as usual).

BUT WILL people feel safe to seek that knowledge? In September 2005, six months after Chicago Bulls center Eddy Curry felt his heart skipping beats, the team added a genetic testing clause to the one-year, $5 million contract offer it had on the table. If the tests showed that Curry had HCM, the team would not let him play, but it still promised to pay him $400,000 a year for the next 50 years. Fearing that the public disclosure of the results might jeopardize his career, Curry refused, and the Bulls traded him to the New York Knicks. "As far as DNA testing, we're just at the beginning of that universe," Alan Milstein, Curry's attorney, told the Associated Press. "Pretty soon, though, we'll know whether someone is predisposed to cancer, alcoholism, obesity, baldness and who knows what else.... Hand that information to an employer and imagine the implications."

The Genetic Information Nondiscrimination Act (GINA) would prevent employers from requesting employees' genetic information, and employers and insurance companies from discriminating against a person based on the content of their genetic code. In effect, it would give people like Curry the freedom to submit to a potentially lifesaving test without fear of reprisal. Last April the House of Representatives voted 420--3 to pass the bill, and President George W. Bush has already said that he will sign it should it clear the Senate. But Senator Tom Coburn (R., Okla.), a physician who voted for a similar version of the bill that passed the Senate 98--0 in 2005 (but never made it to a vote in the House), has placed a "hold" on the latest GINA, forestalling a vote. Coburn initially argued for specific language ensuring the rights of the fetus. The language of the bill was altered to that end, but his hold persists.

Coburn says that he supports a genetic nondiscrimination law, but that the current version of GINA does not provide enough protection for employers. "What if an employee files a form to take family leave from work and they write on the form that they have to take care of their mother who has breast cancer?" he says. Because breast cancer can be hereditary, "the employer may have gathered genetic information accidentally, and they are vulnerable in a lawsuit. We need protection for [employers and insurance companies] who don't mean to discriminate, but have accidentally collected information."

As far as Christine Seidman is concerned, the passage of GINA, which was first introduced in 2002, is overdue. "Americans have to support this," she says. "I have Alzheimer's and breast cancer in my family. You may have schizophrenia. We all have something. I believe that families have a right to know everything they can."

But should all patients know everything about their genome? Even experts aren't certain. "I see some kids, and they don't have a family history of death and they don't have symptoms or a very thick heart, and I don't think a lot of them are at great risk," says Thompson, a former marathoner who competed in the 1972 Olympic trials. "I usually say to them, 'I don't think you're at great risk, but I have to sleep at night, and I can't take a chance with you, so I'm prohibiting you.' For some acne-stained 17-year-old who's accepted at that high school because he's a good linebacker, to tell him that's gone is a load."

THE MOST contentious case of HCM in sports is the one that Nick Knapp is sure he never had. When Knapp rises from behind his desk in Peoria, Ill., where he works as a financial consultant, it's not hard to imagine him having once been one of the top high school basketball players in the state. Even now, eight years removed from his playing days, he is, at 6'5", an erector set of a man, his sharp jaw line leading to a tautly muscled neck that tapers to his bulging shoulders.

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