Following The Trail Of Broken Hearts

On the afternoon of Feb. 12, 2000, Kevin was locked in a tight race in the indoor mile. The bell hollowly signaled the final lap as Kevin kicked to the shoulder of Dan Glaz, a top Illinois distance runner from Amos Alonzo Stagg High in Palos Hills. During that lap Kevin's heart struggled to function. Still he kept coming, finishing second by a meter. After crossing the finish line Kevin walked three steps, dropped to his knees and flopped over on his back. It's entirely normal for a bone-weary runner to sink to the ground after a hard race, but never Kevin. Yet there he was, quaking and heaving as he died on the track.

Each of these victims had HCM etched into his genetic code. Despite their apparent good health, they were destroyed by one mutation in the three billion base pairs—the chemical compounds that form the rungs of the twisting DNA ladder—that make up the 25,000 or so genes crammed into the nucleus of a human cell. That's the equivalent of a single typo in 60 full sets of The Encyclopedia Britannica.

HOW CAN a disease about 20 times more prevalent in the U.S. than Lou Gehrig's disease kill in relative anonymity? Perhaps it is because HCM, unlike ALS, isn't always deadly, and when it is, it often strikes without notice. There is no progressively weakening immune system, no final battle embodied by a courageous ballplayer. "Right now we really don't know most of the time who is at risk of sudden death," says Dr. Paul D. Thompson, a cardiologist at Hartford Hospital. The first diagnosis is often made by a medical examiner, if it is made even then. With few live patients to examine, clinicians have had trouble getting a fix on the disease since British pathologist Donald Teare first compared HCM to a tumor of the heart in 1958. The disease would acquire more than 80 different names, from apical hypertrophy to subvalvular aortic stenosis, until becoming widely known as hypertrophic cardiomyopathy within the last decade.

While an enlarged heart might serve as a conspicuous sign of trouble, it is also characteristic of a highly conditioned athlete. It is no surprise to anyone who saw DeCarlo race sideline to sideline for a sack that he had, literally, a lot of heart. A normal, fully mature human heart weighs about 300 grams, or two thirds of a pound. DeCarlo's heart—perhaps enlarged from working out, and certainly enlarged with HCM—weighed 600 grams. (Ryan Shay, 28, who died 5 1/2 miles into the Olympic marathon trials in New York City last month, and Toronto Blue Jays pitcher Joe Kennedy, 28, who died at his in-laws' home three weeks later, also reportedly had enlarged hearts. Their autopsies are pending.)

If, during high school, DeCarlo had been given an electrocardiogram, or ECG, a $50 test that takes a few minutes and records the electrical signals in the heart, a cardiologist might have noticed a suspicious pattern indicative of an enlarged ventricle. The doctor might have followed up with an echocardiogram—or echo, for short—an ultrasound that gives a real-time picture of the heart and costs $1,000 to $2,000. To a cardiologist who had seen HCM before, an echo could determine whether the heart was merely enlarged by exercise (in which case both the muscle of the left ventricle and the chamber it surrounds would expand) or whether it was afflicted by HCM (in which case the muscle walls would grow but the chamber would not). The doctor might have recommended that DeCarlo trade his cleats for golf clubs, tools of a less vigorous sport that he loved. He could have lived a long, normal life with a surgically implantable cardioverter-defibrillator (ICD) standing sentinel inside his chest. The titanium-encased, computerized device is about the size of a matchbox and is programmed to give the bearer's heart a 750-volt shock when it detects an abnormal rhythm.

DeCarlo would have undergone at least an ECG had he grown up in Italy, where all competitive athletes, from grade-schoolers to pros, must, by law, have their hearts undergo government-subsidized screening. When an American child's heart fails, crestfallen parents often, and understandably, speak out in favor of a nationwide screening program that includes ECGs. If Italy can do it, why can't the U.S., the richest and most sporting of nations?

For one, the U.S. has 37% fewer doctors per capita than Italy, a nation that opened the doors wide to its medical schools after World War II. Some Italian doctors have spent almost their entire careers screening athletes. With an American citizenry that is far more geographically and genetically diverse, and that has more than twice as many high school athletes (7.3 million) as Italy has high-school-age people, marshaling enough experts to do quality, uniform screening is impractical, with the costs prohibitive. "The U.S. health care system does not have the mechanisms to pay for an ECG for every athlete," says Lisa Salberg, who has HCM and founded the Hypertrophic Cardiomyopathy Association. "Nor do we have enough trained professionals to evaluate the results. There would be a lot of athletes placed on alert for no reason, and a lot of missed diagnoses."

And yet, immediate steps can be taken given the hereditary nature of HCM. "Asking whether there is anyone in the family who has died before the age of 50 of cardiovascular causes is incredibly valuable," says Dr. David Glover, a Warrensburg, Mo., physician and expert in presports participation screening, "and that doesn't cost a nickel."

Although Glover has seen improvement in preparticipation screening questions, he has also documented a dangerous trend. In 1997 there were 11 states that allowed chiropractors or other nonphysicians to perform the exams that deem a high school athlete fit to play. By 2005 that total increased to 18 states that sanctioned, Glover says, "practitioners with little or no cardiovascular training" to conduct athletic screening. "You need somebody that listens to hearts every day," Glover says. "A trained examiner knows that if a heart murmur is very loud, or if it occurs during the relaxation phase of the heart, or if it gets louder when you stand up, it raises suspicion that a person could have HCM."

THERE IS a sleek, steel-and-glass building about a mile away from Boston's Fenway Park where the men's and women's rest rooms are labeled with diagrams of chromosomes. On its second floor is Harvard's Seidman Lab, run by the husband-and-wife team of Jonathan and Christine Seidman. "Looking at a patient's genes can tell us that somebody has HCM or is going to develop HCM as they get older," says Christine. The lab is putting mice genetically bred to have HCM through the first HCM drug trial, with the hope that, Christine says, "in a decade or two, the [manifestation of the] disease may be preventable."