Doctors Misdiagnosed Her Genetic Heart Condition As Anxiety for Years

For years, the symptoms looked easy to explain away. A racing heartbeat? Stress. Shortness of breath? Maybe she was tired, out of shape, or just pushing too hard. Trouble climbing stairs? Welcome to adulthood, where apparently everything hurts and nobody has enough sleep. But what seemed like anxiety turned out to be something far more serious: a genetic heart condition called hypertrophic cardiomyopathy, or HCM.

That kind of delayed diagnosis is more common than it should be, especially for women. Heart symptoms that do not arrive wearing a giant flashing neon sign that says “CARDIAC EVENT” are often brushed off as anxiety, panic, hormones, aging, or overwork. The result is a long and frustrating stretch in which patients know something is wrong, but keep hearing that nothing is. It is exhausting. It is dangerous. And in some cases, it can be life-changing.

This article explores what happened in one widely reported case, why HCM is so often overlooked, how symptoms can overlap with anxiety, and what patients and families should know about diagnosis, treatment, and genetic screening. Because sometimes the problem is not that a patient is “too anxious.” Sometimes the body is waving a red flag and the medical system is squinting at it.

The Story That Should Make More Doctors Pause

In the reported case that inspired this article, Jessica Cothran had heart palpitations and shortness of breath for years. Doctors reportedly dismissed the symptoms as anxiety before a cardiologist finally investigated further and diagnosed her with hypertrophic cardiomyopathy. She was 38 when an echocardiogram helped reveal the problem, and genetic testing later showed that both of her daughters carried genes associated with the condition.

That detail matters because HCM is not just a “weird heart thing” that pops up out of nowhere. It is often inherited. In plain English, this means a family history of unexplained heart problems, sudden death, fainting, or “mysterious” cardiac events should never be treated like trivia at a holiday dinner. It belongs in a medical chart.

Cothran’s story also shows how easily symptoms can be normalized. Many people with HCM are active, functional, and busy enough to keep going. They work, parent, exercise, commute, and do all the boring grown-up things that make it easy to assume they are basically fine. Meanwhile, the heart is quietly working harder than it should.

What Is Hypertrophic Cardiomyopathy, Exactly?

Hypertrophic cardiomyopathy is a disease in which the heart muscle becomes abnormally thick. Most often, the thickening affects the wall between the two lower chambers of the heart. That can make it harder for blood to move efficiently out of the heart and can also disrupt the heart’s electrical system. In other words, HCM can cause both a plumbing problem and a wiring problem, which is an extremely rude combination.

HCM is one of the most common inherited heart diseases. Some estimates put it at about 1 in 500 people in the United States, and many cases are believed to go undiagnosed. Some experts and advocacy groups suggest the true burden may be even higher, especially when silent or mildly symptomatic cases are counted. Either way, this is not a zebra diagnosis. It is more like a horse that keeps getting mistaken for a panic attack.

There are two main forms: obstructive and nonobstructive HCM. In obstructive HCM, the thickened heart muscle blocks or reduces blood flow leaving the heart. In nonobstructive HCM, the muscle is still thickened, but the main issue is stiffness and impaired filling rather than a physical blockage. Both forms can cause symptoms, both can complicate daily life, and both deserve careful follow-up.

Why Doctors Sometimes Call It Anxiety First

To be fair, anxiety and heart disease can overlap. Anxiety can cause palpitations, chest discomfort, sweating, shakiness, and shortness of breath. Heart conditions can cause palpitations, chest discomfort, sweating, shakiness, and shortness of breath. The Venn diagram is not helpful.

But overlap is not an excuse for shortcuts. When a patient repeatedly reports exertional symptoms, fainting, lightheadedness, chest pain, or a family history of sudden cardiac death, a real cardiac evaluation should happen. A history of anxiety should not automatically close the case file with the energy of “welp, mystery solved.”

Women are especially vulnerable to this kind of dismissal. Advocacy groups and academic medical centers have repeatedly warned that women’s heart symptoms are more likely to be mislabeled as stress, menopause, reflux, aging, or anxiety. Younger women may also misread their own symptoms as stress, and some clinicians may be less likely to view their complaints as heart-related. That creates a double delay: first the patient second-guesses herself, then the healthcare system does it too.

There is also a pattern problem. HCM symptoms do not always look dramatic at first. They may show up during exercise, while climbing stairs, after a heavy meal, or during periods of stress. Some people have symptoms only occasionally. Some have none for years. Others are told they have asthma, panic attacks, a benign murmur, or “just dehydration.” All of this can push diagnosis further down the road.

Common Symptoms That Deserve a Closer Look

Not everyone with HCM feels sick, and that is one reason the condition can stay hidden. But common symptoms can include:

Heart palpitations

A racing, pounding, fluttering, or flip-flopping heartbeat is one of the most commonly reported symptoms. Some people describe it as their heart doing parkour in their chest.

Shortness of breath

This may happen during exercise at first, then during lighter activity over time. If walking upstairs starts to feel like a dramatic mountain expedition, it is worth mentioning.

Chest pain or pressure

Especially during physical exertion, this can be a warning sign that the heart muscle is not getting what it needs.

Dizziness, lightheadedness, or fainting

These symptoms matter a lot. Passing out during exercise or emotional stress should never be treated casually.

Fatigue

Yes, everyone is tired. That does not mean all fatigue is normal. Persistent, unexplained exhaustion paired with cardiac symptoms deserves real attention.

In some cases, a heart murmur may also be present. That is important because a murmur can be the breadcrumb that leads to the actual diagnosisif someone follows it.

The Genetic Piece: Why Family History Matters So Much

HCM is often inherited in an autosomal dominant pattern. That means if one parent carries a disease-causing gene associated with familial HCM, each child has a 50% chance of inheriting it. Cleveland Clinic and Stanford both emphasize the importance of genetic counseling and family screening, and MedlinePlus notes that multiple genes can be involved.

This is why a diagnosis does not stop with one person. It can ripple across generations. A confirmed diagnosis may lead to genetic counseling, blood or saliva testing, echocardiograms, ECGs, and routine surveillance for relatives. That is not overreacting. That is how families avoid learning about inherited risk only after a tragedy.

And family history is not only about whether someone had “heart disease.” Patients should mention unexplained fainting, sudden deaths at a young age, relatives with pacemakers or defibrillators, unexplained strokes, and stories that sound suspiciously vague, such as “he just collapsed” or “she died in her sleep.” Inherited cardiovascular disease has a way of hiding behind fuzzy family legends.

How HCM Is Diagnosed

The good news is that HCM is diagnosable. The frustrating news is that it sometimes takes longer than it should.

Diagnosis usually begins with a careful medical and family history, plus a physical exam. From there, doctors may use:

Echocardiogram

This is often the key test. It uses ultrasound to show the heart’s structure and movement and can reveal thickened heart muscle.

Electrocardiogram (ECG or EKG)

This records the heart’s electrical activity and may detect rhythm problems or signs of thickening.

Holter or event monitor

Wearable monitors can capture abnormal rhythms that come and go.

Cardiac MRI

This can provide a more detailed picture of heart muscle thickness, scarring, and other features that shape treatment decisions.

Stress testing

Exercise testing may help reveal symptoms, obstruction, rhythm changes, and exercise capacity.

Genetic testing

This may confirm inherited risk and help identify family members who need screening.

Importantly, experienced centers often distinguish HCM from other conditions that can look similar, such as athlete’s heart, high blood pressure–related changes, or infiltrative diseases. That level of nuance matters. Not every thick heart muscle is HCM, and not every normal-looking early test rules it out forever.

Treatment Can Be Highly Effective

An HCM diagnosis is serious, but it is not a hopeless one. Many people with HCM live normal or near-normal lifespans with the right care. Treatment depends on symptoms, risk level, and whether the disease is obstructive.

Common treatment options include beta blockers and calcium channel blockers to reduce symptoms and help the heart work more efficiently. Some patients may need medications for rhythm control or blood thinners if atrial fibrillation develops.

For adults with symptomatic obstructive HCM, mavacamten is now an FDA-approved option that can improve exercise capacity and symptoms. That is a major step forward because it gives some patients another route besides just “try not to overdo it and see how things go,” which is not exactly a thrilling long-term strategy.

Some people may need procedures such as alcohol septal ablation or septal myectomy to reduce the thickness of the obstructing muscle. Others, especially those at higher risk of dangerous arrhythmias, may need an implantable cardioverter-defibrillator, or ICD, to help prevent sudden cardiac death.

The biggest point is this: the sooner the diagnosis happens, the sooner appropriate treatment, lifestyle guidance, and family screening can begin.

What Patients Can Learn From Stories Like This

There is an uncomfortable lesson in stories like Jessica Cothran’s: being repeatedly told “it’s anxiety” can delay diagnosis, but it can also train patients to stop trusting themselves. That may be the most harmful part. Once someone has been dismissed enough times, they may stop mentioning symptoms, delay follow-up, or assume they are overreacting.

They are not overreacting if symptoms keep happening. They are not overreacting if climbing stairs suddenly feels weird. They are not overreacting if palpitations make exercise feel frightening. And they are definitely not overreacting if there is a family history of unexplained heart issues.

Patients do not need to march into appointments delivering a TED Talk with five laminated charts and a laser pointer. But they should be specific. Say when symptoms happen. Say what makes them worse. Mention whether they happen during exercise, emotional stress, or standing up. Mention fainting. Mention relatives. Mention that the symptoms are changing. The more concrete the story, the harder it is to dismiss with a generic “probably stress.”

Experiences Behind the Diagnosis: What This Often Feels Like

Across patient stories about hypertrophic cardiomyopathy and other serious cardiac conditions, the emotional experience is strikingly similar. First comes confusion. A person notices something odd: being winded too easily, a sudden thump in the chest, a dizzy spell, a weird flutter during exercise, a sense that recovery from exertion feels too slow. The symptom is real, but it is intermittent enough to make self-doubt easy. Maybe it is caffeine. Maybe it is stress. Maybe it is just one of those bizarre body glitches nobody talks about.

Then comes repetition. The symptom returns. Maybe not every day, but often enough to become a pattern. This is where many people finally go to a doctor, hoping for clarity and getting vagueness instead. Several patient accounts describe being told the problem was anxiety, panic, reflux, menopause, or simply “nothing concerning.” That kind of answer can be oddly powerful. Even when the body keeps objecting, the patient starts negotiating with herself: maybe I really am just too stressed; maybe I need better sleep; maybe I am making this dramatic.

Over time, the practical impact grows. Stairs become harder. Workouts shrink. Long walks feel different. People quietly adapt without realizing how much they are compensating. Some stop exercising because symptoms scare them. Some avoid mentioning episodes to friends because explaining them gets tiring. Some become hyperaware of every heartbeat, which only makes the “it’s anxiety” label stick more tightly, because now the stress is real too. Being misdiagnosed does not prevent anxiety; it often creates it.

When the correct diagnosis finally arrives, patients often describe two opposite feelings at once: relief and anger. Relief, because there is finally a name for what was happening. Anger, because the signs were there. In some stories, prior tests had already shown clues that were not fully pursued. In others, family history had been present all along but never connected to current symptoms. The diagnosis explains the past, but it also reframes it. What looked like oversensitivity turns out to have been persistence. What looked like nervousness turns out to have been the body asking for help in increasingly loud ways.

There is also the family impact. A genetic diagnosis is rarely an individual event. Children, siblings, and parents may suddenly need screening, counseling, or testing. That can be frightening, but it can also be empowering. A missed diagnosis steals time; a confirmed diagnosis can give a family a roadmap. Instead of vague worry, there are concrete next steps. And for many patients, that shift matters almost as much as symptom relief. They are no longer trapped in a loop of being told they are imagining things. They finally have evidence, a plan, and a reason to take their own experience seriously.

Conclusion

The phrase “it’s probably anxiety” is not always wrong. But it should never be the end of the conversation when symptoms are persistent, physical, exertional, or backed by family history. Hypertrophic cardiomyopathy is a real, often inherited heart disease that can masquerade as everyday stress until someone looks closely enough to see the pattern.

That is the real takeaway from stories like this one. Misdiagnosis is not just a paperwork problem. It changes how patients see themselves, how long they wait for care, and whether family members learn about inherited risk in time. The better response is not to pit mental health against heart health. It is to remember that both can be true, and neither should be used to erase the other.

When symptoms keep showing up, the patient is not being dramatic. The body is trying to file a complaint. Someone should read it.

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