- Hypertrophic cardiomyopathy (HCM) can be a serious heart condition.
- HCM is the most common form of genetic heart disease.
- An estimated 1 out of every 500 people have HCM, but many are undiagnosed.
Jessica Cothran had always lived an active, healthy lifestyle, but for years was troubled by heart palpitations and experiencing shortness of breath when she would exercise. Initially, she passed this off as over-exertion, but then it got worse.
Jessica recalls one scary episode when she experienced a palpitation while driving, her two daughters were little and she thought to herself, “I need to look into this.”
When she would talk with doctors, however, her experiences were dismissed as symptoms of anxiety and she was told she had nothing to worry about.
“I started being concerned with this in my 20s, and then as I got into my 30s, I noticed I was having a hard time going up stairs and I needed to take breaks. My family was more concerned with that than I was,” she told Healthline. “Then, I had another episode, a spell of heart palpitations when I was exercising that felt different than what I was used to. It was more alarming. I had to stop, it made me too afraid to exercise.”
She then went to a cardiologist in 2018 who gave her the answers she was looking for.
Her doctor detected a heart murmur that previous providers had pinpointed but never investigated thoroughly. She was only 38, and after having an echocardiogram, she was diagnosed with a condition she never even heard of before: hypertrophic cardiomyopathy, or HCM.
After moving to the greater Nashville area, Cothran and her family found a specialist to get a second opinion. Not only did this further confirm her HCM diagnosis, the specialist conducted genetic testing on her daughters.
They both were found to have the genes associated with the heart condition. It was a necessary step that put the Cothrans at ease in many ways. It put a name to what was happening with Jessica’s health and gave her daughters the information they need to get routine screenings and check-ups to keep an eye on their heart health moving forward.
To share their family’s story and offer others with needed information about this chronic condition, Jessica and her daughter, Sarah, a singer-songwriter and TikTok influencer with more than 3 million followers, have joined Could it Be HCM?, an awareness campaign from Bristol-Myers Squibb.
It’s a fairly common condition, but one that often goes under the radar. An estimated 1 out of every 500 people has HCM, but many are undiagnosed,
HCM is often the result of the presence of abnormal genes in the heart muscle, resulting in a thickening of the left ventricle, or the heart chamber’s walls. This can lower how much blood comes in and ultimately sent out to the rest of the body with each heartbeat, according to the association.
Given that it’s a genetic condition, unlike other forms of heart disease, HCM isn’t tied to one’s lifestyle or overall health.
Dr. Theodore Abraham, FACC, FASE, a cardiologist and co-director of the UCSF HCM Center of Excellence and the director of the UCSF Adult Cardiac Echocardiography Laboratory, told Healthline that somewhat non-intuitively, the heart function is actually “overly robust and hyper dynamic” with HCM. It doesn’t matter if someone eats only salads and exercises daily or “smokes, or drinks alcohol, or eats a lot of hamburgers.”
“The heart is very robustly functioning [with HCM] at what is often considered ‘normal,’ so it gets mistaken for other conditions,” Abraham, who is unaffiliated with the awareness campaign, explained. “The risk for a misdiagnosis or for under-diagnoses is very common.”
For people who possess the genes that cause this abnormality, HCM can affect young and old and people of any gender or ethnic background.
Abraham said that a diagnosis for HCM is achieved by way of cardiac imaging, like it was for Jessica. This could be an ultrasound or echocardiogram, which is the most common diagnostic tool.
He said a lot of people with this disease show no symptoms, so many people who have it aren’t going in for routine screenings, especially if they are unaware of any family history.
For her part, Jessica shared that her father passed away when she was just 16 years old “from something heart related.”
After talking it over with her grandmother, Jessica theorizes that this condition most likely was passed down through her father’s side of the family.
Abraham stressed that by way of a regular physical and standard heart disease screenings (think EKGs, listening for heart murmurs) won’t detect the often asymptomatic HCM. That is why more advanced cardiac imaging is needed.
When it comes to treatments, Abraham said it depends on what type of HCM you have.
Obstructive HCM: this is when the thickened are of the heart muscle blocks and reduces blood flow from left ventricle to the aorta.
Nonobstructive HCM: this is where thickening still occurs but blood flow isn’t blocked, according to the American Heart Association.
The most common form is obstructive HCM.
With obstructive HCM, Abraham said most means of treatment are medical therapies, but if a patient can’t tolerate them, then non-medical therapies are an option.
One of these involves an alcohol ablation administered through a catheter, and another would be a myectomy, which is done through open-heart surgery.
He said when it comes to therapies, there have been recent breakthroughs that have seen a new class of drugs “that were able to completely dissipate the ‘obstructive gradient’ as they call it.”
One drug is mavacamten, approved last year. The other is aficamten, which is in a main trial that will be announced early next year, he said.
“There are multiple other therapies, too,” he added. “They are trying these same drugs for nonobstructive just to see if they are helpful…there are lots of other exciting therapies now, too. You have gene therapy, where if you have one type of genetic mutation, you could actually inject a gene into their veins that goes into the heart and starts producing the protein that’s deficient — that’s actually a trial that is just starting.”
Additionally, Abraham said there’s another class of drugs being tested that would modulate the heart’s function that could work as a treatment for HCM.
“Lastly, early data shows these so-called SGLT2 inhibitors — the drugs that are being used for diabetes and heart disease, heart failure — might also be useful,” Abraham said. “So, there’s lots of exciting new therapies that are being attempted and are actually recently approved to be used by the FDA [Food and Drug Administration].”
Jessica said the decision to get her kids tested was scary at first. No parent wants to hear the news that their child might have the genes that could develop a potential heart condition down the line.
Once they had a clear picture, however, she said there is comfort in having the vigilance of going in for cardiology appointments each year and to monitor if any symptoms like hers ever appear.
For Sarah, it was “stressful and caused some anxiety” when she learned she had the genes needed for HCM.
“It was confusing and a lot at the time,” she told Healthline of the process of learning her mom had HCM and then going in for genetic testing herself. “I talked to my doctor and I continue to get checkups and that is comforting — it makes us all feel a lot better.”
Abraham stressed that routine screenings for the population as a whole aren’t the norm when it comes to this, but he said it is important to note that HCM “is thought to be the most common cause of sudden cardiac death in young athletes in high school and college.”
“Awareness is important,” he said. “A low threshold of screenings are very important to kind of catch people who are at risk. The risk of sudden cardiac arrest is high regardless of what type of HCM you have — whether you have the high pressure or obstructive kind, or the normal pressure and nonobstructive kind.”
He said anyone who has a family history should get screened and bring this up with a cardiologist, and also it’s important there is a low threshold for screening requirements for those people who “don’t have a clear explanation” for why they are experiencing heart disease symptoms but their other readings and testing comes out otherwise normal.
Going in for that imaging can literally save your life.
How is Jessica’s health today? She said she feels great.
“I’m in really good shape, I’m not saying I’m totally symptom free, I do have days where it’s very obvious that something is going on there, but I know and I feel confident with my treatment, and I just feel like I”m doing really good where I’m at now,” she said.
For Sarah, she may have the gene, but she hasn’t been diagnosed with HCM.
“I just continue to see my doctor and do annual check-ups and try to live a healthy lifestyle. I feel we are both doing really really well,” Sarah said.
Sarah added that if you have any symptoms or are experiencing doubt of any kind about your health, go see your health care provider.
When it comes to sharing their story so publicly, both Cothrans said it’s important to spread the word to others who might be confused about what is happening with their health, or who might not have HCM on their radars at all, but probably should — especially if that family history exists.
“I don’t think a lot of people have heard of it. You get that diagnosis and try to kind of educate yourself about it, it can be really scary,” Jessica said. “Maybe it makes it less scary for somebody to say ‘look at them, they are going through it and they are doing good.’ “