When a young athlete suddenly falls dead in the middle of a sporting event, there’s a stunned search for answers: How could such a thing be possible?
A lot of the time, cardiologist Dr. Linda Gillam said the culprit is hypertrophic cardiomyopathy, which stealthily thickens hearts in a way that makes it struggle to pump blood. It also sets individuals up for a stroke or heart attack.
It’s one of the “silent diseases” of the heart, those that often strike without warning. And it’s one of the conditions New Jersey’s top cardiac care centers are pouring resources into better diagnosing and treating — before it’s too late for the next seemingly healthy person.
Gillam, medical director of the cardiovascular service line for Atlantic Health System, said it’s created a program it’s proud of — and one of the few in the region dedicated to hypertrophic cardiomyopathy. It attracts patients from around the globe, who often don’t have many options available to them.
“We have one of the largest programs (for hypertrophic cardiomyopathy) on the East Coast,” she said. “There’s not that many in the middle of the country, and, other than that, there’s the West Coast — but not that many programs there at the scope and scale of our program here.”
Although hypertrophic cardiomyopathy registers as the most common genetic cardiovascular disease, it doesn’t produce symptoms in a majority of those who have it. Other heart conditions can also mimic the appearance of this disease, which affects the heart’s main pumping chamber.
For many, an early diagnosis comes with a recommended avoidance of certain physical activities, so as to avoid an exercise-related sudden cardiac arrest.
“But, it’s important to recognize when a condition is bad enough that people should not be pursuing sports or other exercise activities, while being knowledgeable enough to say when someone’s OK to compete and exercise safely,” Gillam said. “The heart also adapts to physical training and in ways that can be confused with bad forms of disease.”
Those suspected of having the condition undergo thorough evaluations at Morristown Medical Center‘s Chanin T. Mast Center for Hypertrophic Cardiomyopathy. It goes without saying that a lifelong ban on competitive sports is a major lifestyle modification for some patients, so professionals want to know without any doubts that’s sound advice.
“There was one case in which an Olympic athlete was told she could no longer compete, but that turned out to be an incorrect diagnosis,” Gillam said. “And, in fact, she was given the green light based on that to be able to get back to competition.
“The conversations around termination of (participation in sports) is also really important for kids, especially for those for whom that might mean not being able to be recruited by colleges as athletes and given free-ride scholarships. So, it’s important for them, and us.”
Of importance also is finding approaches to treating this condition. New Jersey’s heart health experts are exploring that, too.
Historically, Gillam said the only choices have been surgery or reducing heart muscle through local injections of alcohol. There’s now medication that’s being tested out to help control the condition, she added.
In fact, Atlantic Health System’s Morristown Medical Center last year became the state’s first hospital to use one of those medications: Camzyos, the first FDA-approved cardiac myosin inhibitor targeting the source of obstructive hypertrophic cardiomyopathy.
“Having a very active research program here means we can also give patients access to medications that are not currently approved by the FDA under a research protocol,” Gillam said.
Dr. Suneet Mittal, chair of the cardiovascular service line for Valley Health, said silent diseases of the heart have a chance to be caught at earlier stages through artificial intelligence-aided detection. Already, AI is being implemented in the routine use of stethoscopes and electrocardiograms to clue professionals into patterns that might indicate the existence of these underlying issues.
“Having these tools, some of which have been used for over a century, incorporated with AI algorithms … means we’re not only able to look for what we’d be normally looking for, but also alerted to whether findings are reflective of underlying disease states, such as hypertrophic cardiomyopathy,” he said.
Besides that, medical teams are also finding that these tools have the potential to flag atrial fibrillation, a sometimes asymptomatic irregularity in one’s heart rhythm that can lead to strokes, blood clots and other complications.
There’s a long list of heart conditions accompanied by nonexistent or nonspecific symptoms — with cardiac amyloidosis, a buildup of abnormal proteins in the heart, being another example — that Mittal said can lead to a delayed diagnosis.
“So, having clinicians alerted to patterns of information that show how someone could be suffering an underlying disease with the use of AI allows us to risk stratify and treat someone before potentially bad outcomes happen,” he said.
With the trials already being conducted, and investments he’s seen made this year, Mittal expects the deployment of this technology in clinical practice is much more imminent than even a decade out.
Of course, he adds, there are training (and significant cost) implications for health care systems, as well as challenges associated with there not being a dominant vendor offering these technologies.
“But, I think you want to be a center that’s going to be at the leading edge of this type of innovation, as opposed to remaining on the sidelines,” he said.
As health systems press forward with investigating the potential of machine learning systems to assess the heart at a deeper level than ever before, New Jersey’s organizations are leading the charge.
For its part, Gillam said Atlantic Health System is taking every opportunity to work with companies on evaluating solutions.
“I consider myself lucky, as we’re in a place where there isn’t a year that goes by without a major advance in the field,” Gillam said. “And, in many instances, we’re playing a pivotal role in that advance.”
Race factors
Even if a condition such as hypertrophic cardiomyopathy too often goes overlooked, there’s a fact that health care experts hope doesn’t get passed over. …
Talking about sudden cardiac deaths in young athletes means talking about Black athletes. They’re linked to these rare events at the (disproportionately) highest rate, according to the American Heart Association.
Atlantic Health System’s Dr. Linda Gillam said her organization has focused a lot on the many dimensions of health equity, including how the risk factors and the presentation of heart conditions can differ by population.
“We’re right-sizing the evaluation and management of patients based on what we know to be those differences,” she said. “And part of that is just getting the word out to people that need to be aware that heart disease remains (the country’s) No. 1 killer.”
For a health system, one of the controllable aspects of caring for underserved and underrepresented patients lies in its team’s own diversity. Gillam said all evidence points to people being most likely to act on care plans from health care providers who they can relate to.
“As a white woman, I can give the same exact information to one of my patients who is Black as a colleague, who is a Black woman, and that patient is statistically much more likely to follow those suggestions if that information comes from my Black colleague,” Gillam said. “We’ve got to be tuned into that.”
Across the board, Gillam said there also needs to be an improvement of care for women about to become pregnant or those who already are pregnant. Despite efforts at organizations such as hers, which has a heart health program designed for women at Morristown Medical Center and Overlook Medical Center, New Jersey continues to have some of the worst maternal and fetal health outcomes in the country.
“That’s a statistic many people don’t appreciate,” she said. “Most of those outcomes are related to something such as high blood pressure, and that can be changed. … We want to do what we can to ensure everyone winds up with the best care available to have healthy lives.”
