Unfair Advantage


Hidden Heart Problems Can Trigger Sudden Deaths of Young Athletes

The death of a child is one of life’s most wrenching experiences. However, when the child seems perfectly healthy and the death is unexpected, the sudden impact carries an altogether different devastation. Too many such deaths happen to young athletes who suffer from hidden heart problems that are discovered too late.

Although still relatively rare, sudden cardiac deaths, sometimes called SADS for sudden arrhythmia death syndrome, are actually more common among young people than you may realize. Unrecognized heart abnormalities kill 3,000 to 6,000 young athletes in the United States each year, according to cardiac experts at the Mayo Clinic.

One victim was Andrew Helgeson, 18, an apparently healthy all-star lacrosse player from Silver Spring, Md., who died of sudden cardiac arrhythmia in 2005, a week shy of his graduation. But his family and community did more than grieve: They pushed for “Andrew’s Law,” which helped to put automated external defibrillators (AEDs) in all Maryland public high schools and at school-sponsored sporting events.

Such awareness is growing. Last May, the Johns Hopkins School of Medicine screened for the first time about 1,000 young Maryland athletes attending a track and field event for high school students. And this May 23, even more athletes will be screened at Baltimore’s Morgan State University.

Meanwhile, across the pond in London, the British nonprofit CRY (Cardiac Risk in the Young) will hold its fifth annual Family Medical Conference in June for those touched by sudden cardiac death — including family members who could be at risk themselves because of the genetic component behind many of these deaths.

A variety of conditions in fact can contribute to SADS, many of which are inherited. The most common of these is called hypertrophic cardiomyopathy, or an enlarged heart. The second most frequent cause of SADS is an irregular heartbeat triggered by arrhythmogenic right ventricular cardiomyopathy (ARVC).

ARVC is passed down through families and is perhaps the most difficult of these heart conditions to diagnose — tough to detect even after death. Autopsy invisibility can leave grieving, stunned relatives in the dark and at serious risk of their own heart attacks. The condition affects approximately one in 5,000 individuals worldwide, and is particularly common among Mediterranean populations. In Italy, for instance, it’s the leading cause of sudden cardiac death among patients under age 35.

But a researcher at Harvard Medical School in Boston has devised a test that could detect and prevent some of these tragic losses. Dr. Jeffrey E. Saffitz, working with an international group of scientists and physicians from Greece, Britain, Italy and the United States, has developed a highly sensitive and accurate test for ARVC. Their work, which was reported in the March 12 issue of the New England Journal of Medicine, is not yet on the market, but the results are promising.

Saffitz’s test can confirm the presence of ARVC with a biopsy or find it after someone has died by detecting protein abnormalities created by gene mutations — and it produces few false positives. Thus using this test on heart tissue can rule out or rule in ARVC with an unusually high degree of certainly.

And this matters a lot. It could allow a person with the disease or the family of a victim to act swiftly to prevent future death. An affected person may have to give up sports and live carefully if they test positive for the disease, but relatives of an identified ARVC victim won’t have to spend the rest of their lives wondering if they could drop dead during a game of tennis. Either they’ve got the “bad gene” or they don’t — and now they can find out.\

“In most cases of ARVC, there’s no inkling there’s a problem,” Saffitz said, noting that in most identified cases today, ARVC is discovered during an autopsy. And if it’s not detected when someone dies from SADS, relatives who carry the gene mutation are at “very high risk for a lethal episode.”

One typical scenario, Saffitz explained, is that “a healthy kid faints for no reason. It happens again and the parents take the kid to a pediatrician who may administer an EKG and usually doesn’t find anything abnormal. If there are continuing problems, say more fainting or detection of an irregular heartbeat, they may try a cardiologist.” Heart monitoring may or may not turn up rhythm abnormalities, but even further tests, including an MRI, won’t necessarily pick up ARVC.

Why not? ARVC is a subtle beast. It affects the right ventricle, the chamber of the heart that pumps out deoxygenated blood. It chews up heart muscle and replaces healthy muscle with abnormal fibers and fat — but these changes are not visible until the end of the process. Long before that, ARVC’s defective proteins trigger irregular heartbeats that can kill in an instant.

The new test to detect ARVC’s protein problem does involve a biopsy — a serious though not especially risky procedure, Saffitz said. “It’s not painful, but we do sedate patients. It’s an outpatient procedure. A catheter is threaded into the heart through the neck on the right side. The complication rate is low. Heart biopsies are performed in all major medical centers [for a variety of reasons],” he explained. “But until we developed this test they wouldn’t tell you anything about ARVC.”

Because the biopsy procedure is already in use and there are existing manufacturer test kits, Saffitz said he expects the cost of the new test to be fairly low. He also believes that the test, if his results are backed up by further research, can be commercially available one to two years from now.

Once detected, there are drug and surgical treatments available for ARVC, including implanting a defibrillator in the chest to prevent death from a heart rhythm irregularity. But a competitive young athlete will still be slammed with a harsh reality. “If the answer is yes you’ve got it, and you play basketball, we have to say, ‘Sorry, but you’re not going to be doing that anymore,’” Saffitz said.

But the alternative of course is far worse. Still, Saffitz hopes it doesn’t get to either a life-changing or life-ending scenario. So for now too, his job — and passion — is prevention, and not just treatment. But how can such a silent killer be prevented? “Well, the problem is at the molecular level. If we look at the molecular pathway and understand it through long-term research, we might uncover a drug target.” In fact, he said, “We’re pretty sure we can do that.

“I’m a researcher,” he concluded. “I want to find out how to prevent it rather than put a box in your chest.”

About the Author

Carolyn Cosmos is a contributing writer for The Washington Diplomat.