Chris Hill remembers his 14-year-old son, Colin, as a boy who loved to run.
“I look back at him as a kid, he always loved running,” Hill recalled. “He always loved being fast. That was kind of his lane anyway. So once he started running, he just fell in love with it.”
Colin, a McCluer High School student, had recently begun competing in cross-country when he suffered sudden cardiac arrest on Oct. 28. An autopsy determined he had hypertrophic cardiomyopathy, or HCM, an inherited heart condition that causes the heart muscle to become abnormally thick.
Hill said his family had never heard of the condition before Colin’s death.
“I don’t feel like nobody should find out what their child died from in an autopsy,” Hill said. “My son could possibly still be here if I would have seen a flyer like the ones that I’ve been putting out.”
Determined to spare other families the same loss, Hill founded Colin’s Heart Foundation to raise awareness about HCM and encourage parents to learn more about the condition.
“I think people need to have awareness and know about it up front, and then they can choose what they want to do with that information,” Hill said. “But they can’t say they didn’t know.”
Doctors say awareness is especially important because HCM often goes undiagnosed until symptoms become severe or tragedy strikes.
“In basic terms, it just means that the walls of the heart are too thick,” said Dr. J. Gmerice Hammond, an assistant professor of medicine at Washington University. “The heart is essentially a muscle, and it’s got to squeeze the blood out properly.”
The thickened heart muscle can make it harder for the heart to pump blood and can trigger dangerous heart rhythm problems that increase the risk of sudden cardiac arrest.
Although HCM is considered the most common inherited heart condition, many people have never heard of it. Estimates suggest it affects between one in 200 and one in 500 people, according to Columbia University Irving Medical Center.
A child with a parent who carries an HCM-related genetic variant has a 50% chance of inheriting it.
Doctors said Colin’s case was unusual because genetic testing found neither of his parents carried a known HCM-related genetic variant.
Colin had passed a routine sports physical before joining the cross-country team, something Hill now believes illustrates the limits of standard screenings.
“Don’t just go in and do the little 14-point physical that the school requires,” Hill said. “All they do really is just slap a stethoscope on your chest and on your back and then ask you a couple of questions and let you go. You can’t find heart issues like that.”
A widely cited study published in the Journal of the American College of Cardiology found HCM was the leading cause of cardiovascular-related sudden death among young athletes, accounting for 36% of those deaths.
The research also found Black athletes represented a disproportionate share of sudden cardiac deaths, a disparity Hammond said reflects broader inequities in diagnosis and research.
“In our community, a lot of times we receive genetic testing that says the variants or the results are inconclusive,” Hammond said. “I want to point that out because, if that happens, make sure to have them keep looking because we are underrepresented.”
She said Black patients remain underrepresented in genetic research and databases, making it harder in some cases to identify disease-causing variants.
“We need more equitable access to screening in the Black community,” Hammond said. “That’s going to help us in terms of finding those of us who may have this and getting the treatment that we need.”
For Teresa Shores, 63, the consequences of those gaps became personal.
She was diagnosed with HCM six months ago after decades of symptoms that she said were repeatedly dismissed.
“When I complained in early adulthood about episodes where I would be short of breath, I was told at one point, ‘Oh, that sounds like stress or anxiety. Let’s put you on some medicine for that,’” Shores said. “Only now have I found out that my heart is not shaped properly, and that is what was really causing my symptoms. The doctors assured me I said the right things. The medical system just missed it.”
After her diagnosis, Shores learned that two of her brothers had also been diagnosed with HCM but never realized other family members could be at risk.
“In our community, families use general terms for heart problems,” Shores said. “For years, my brother told me he had an ‘enlarged heart.’ He passed away last year at 63. I lost an uncle at 31 to a sudden heart attack while driving his car. You don’t automatically associate those stories with hypertrophic cardiomyopathy.”
Doctors say many people with HCM experience no symptoms or only mild ones. When symptoms do occur, they can include shortness of breath, chest pain, heart palpitations, dizziness and fatigue.
“Please make sure that we don’t just attribute that to hypertension or asthma or, ‘Oh, maybe I’m out of shape,’” Hammond said. “If you have those, take them seriously.”
With early diagnosis and treatment, including medications, implanted devices or surgery in some cases, many people with HCM are able to manage the condition successfully. Doctors may also recommend tests such as electrocardiograms, echocardiograms and genetic testing when a patient’s symptoms or family history warrant additional evaluation.
Shores said her diagnosis motivated her to enroll in a clinical drug trial at Barnes-Jewish Hospital and Washington University.
“I decided to enter a trial drug study because I want people to get the help they need,” Shores said. “Black women, in particular, are underrepresented in a lot of drug trials, and I told the doctor I wanted to be one of them. This is going to get more of us in the community to participate in research. If this helps anybody, I would be so grateful — my brother is a tribute to that.”