Through Thick & Thin: What You Should Know About Inherited Cardiomyopathy

By Tamekia Reece

Around 1990, Stan Gurka, A Weakened Heart of Noblesville, Indiana, was hospitalized with pneumonia. “It was quite severe; I could barely walk across the room,” he says. He even had to undergo surgery to get one of his lung lobes removed. He recalls that the outlook was shaky, and there were a lot of family prayers.

Eventually, Gurka recovered. But during a follow-up visit, his doctor made an important referral. “I saw the [recommended] cardiologist, and he jokingly said he could just about hear the heart murmur when I walked in the door,” Gurka says.

He wasn’t surprised. Back in the 1960s, an ER doctor had mentioned the heart murmur, a whooshing or blowing noise during a heartbeat. However, at the time, he had just broken a toe (thus, the ER visit) and was busy preparing to get married. The murmur wasn’t causing any problems, so he didn’t worry.

At the 1990 cardiology visit, Gurka expected to hear, once again, that the heart murmur wasn’t an issue and he was good to go. However, his cardiac testing revealed a problem: Gurka had hypertrophic cardiomyopathy, a condition in which the heart muscles become thickened.

After the diagnosis, Gurka was shocked and feared his life would be drastically different — or worse, cut short. “I was scared because I was just in my early 40s with four dependents,” he says.

But things turned out better than he expected. Now age 75, Gurka, a member of Mended Hearts Chapter 350 in Noblesville, Indiana, is still here and living a fulfilling life even with cardiomyopathy.

“Cardiomyopathy is a condition in which the heart muscle weakens and has difficulty pumping blood to the body,” says Aseem Desai, MD, FHRS, a cardiac electrophysiologist and co-director at Mission Heritage Heart Rhythm Specialists in Mission Viejo, California. It’s estimated that as many as 1 in 500 adults have this condition; however, cardiomyopathy often goes undiagnosed, so the numbers may be higher. Cardiomyopathy affects all races, genders and ages.

With cardiomyopathy, a person’s heart has to work harder to pump blood throughout the body. Over time, the heart gets weaker, and the condition can lead to irregular heartbeats, heart valve problems, heart failure or sudden cardiac death.

Cardiomyopathy can be “acquired,” meaning it develops because of a disease or condition, or it can be “inherited,” which means it was passed along from a parent. Two common inherited cardiomyopathies are hypertrophic dilated cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). HCM is when the heart muscle thickens and has difficulty pumping blood to the body.

DCM is a condition in which the heart muscle stretches and becomes thinner and larger, making it difficult for the heart to pump blood to the rest of the body. HCM is usually caused by gene mutations and is the most common form of genetic heart disease. Dr. Desai notes that several genetic mutations have been identified for hypertrophic cardiomyopathy. If someone has a parent with HCM, there’s a 50% chance this person will have the same genetic mutation that caused the disease. Gurka’s doctors suspect his HCM is inherited.

For dilated cardiomyopathy, the genetic component is a bit murkier. “There are many different causes of dilated cardiomyopathy; some have genetic testing available and some don’t,” says Dr. Desai. According to the American Heart Association, up to one-third of people with DCM inherited it from their parents.

In the Thick of It

HCM has two different types: obstructive and non-obstructive. “Non-obstructive is the one we tend to see in people above 60 years old, and it just means someone has a thickening of the entire heart muscle,” says Dr. Desai.

“Obstructive is where there’s a part of the heart muscle that’s thicker than other parts, and it’s thick to the point that it really affects the blood flowing from the left ventricle up to the aorta,” he says. Obstructive is more dangerous and tends to be seen mostly in younger people.

It’s thought that about two-thirds of people diagnosed with HCM have the obstructive type, while the other one- third have non-obstructive HCM.

Hypertrophic cardiomyopathy is especially dangerous for children and young adults because it puts them at high risk for sudden cardiac death. “Hypertrophic cardiomyopathy is one of the leading causes of death in young, otherwise healthy people,” says Marc Goldschmidt, MD, FAAC, director of the Cardio- myopathy Program and director of the LVAD Program at Stony Brook Heart Institute in Stony Brook, New York. “It’s often the cause of death when you hear about an 18-year-old teenager playing high school football or basketball and suddenly collapsing during a game,” he says.

At Full Stretch

For dilated cardiomyopathy, in addition to it possibly being inherited, DCM can also be due to coronary heart disease, heart attack, high blood pressure, diabetes, viral infections that cause heart inflammation, complications of late-stage pregnancy, misuse of alcohol or illegal drugs, certain cancer drugs and exposure to toxins such as cobalt, lead and mercury. That said, the cause is often unknown.

DCM occurs mostly in adults younger than age 50 and is more common in males and Black people. It can lead to heart failure, heart valve problems, blood clots in the heart and sudden cardiac arrest.

Signs of a Deteriorating Heart

When learning about a disease, we often want to know what the symptoms are. This can be tricky with DCM or HCM because there may be no symptoms. When symptoms are present, people may experience fatigue, shortness of breath (especially during physical activity), chest pain or discomfort, heart palpitations or irregular heartbeats, and swelling in the legs, ankles, feet or abdomen. Additionally, HCM can also cause dizziness, lightheadedness or fainting.

Also, sometimes people overlook the symptoms or mistake them for some- thing else. Initially, after his diagnosis, Gurka thought he hadn’t experienced any symptoms. However, looking back, he realizes he did.

“When I tried to play basketball, I ran out of breath, but I had been a smoker for years, so I just attributed it to smoking,” he says, noting he quit smoking decades ago. He also recalls having trouble breathing during non-strenuous everyday activities. “Sometimes, when I’d walk across the parking lot on a hot day, I’d have to sit down because it got very tiring.”

Dr. Desai says it’s important not to dismiss certain symptoms. “Anytime you have symptoms related to chest pain or shortness of breath, you should get it checked out,” he says.

Each Intervention Is Key

DCM is a common cause of heart failure and can become life-threatening. “Unfortunately, sometimes people suffer cardiac arrest as their first sign of dilated cardiomyopathy,” says Dr. Goldschmidt. The same is true for HCM, especially in younger people.

It’s important to identify cardiomyopathies as early as possible. If a first-degree relative — parent, sibling or child — has or had HCM, family members should get genetic testing to determine if they have a gene that causes HCM.

While there’s no known prevention for HCM, finding the genetic mutation allows doctors to address it early, possibly preventing complications. Gurka’s family members got genetic testing and, luckily, none have the mutation.

Even without a family history of HCM, if you have any symptoms of cardiomyopathy, schedule a visit with your primary care physician or a cardiologist. He or she may recommend cardiac screening tests.

There’s no cure for hypertrophic and dilated cardiomyopathies, but treatment options can help manage the conditions. For DCM, this means improving blood flow, reducing symptoms and preventing further heart damage. Treatment may include a combination of medications, such as beta-blockers, heart rhythm drugs, diuretics and blood thinners. Some people have surgery to implant a pacemaker or an implantable cardioverter-defibrillator (ICD), which monitors the heart’s rhythm and sends an electrical shock to the heart if it detects an irregular heartbeat. Others may have surgery to get a left ventricular assist device (LVAD), a mechanical device that helps the heart pump more effectively. An LVAD can be used long- term or until the person receives a heart transplant.

With HCM, the goal is to decrease symptoms and prevent sudden cardiac arrest. The severity of the symptoms determines treatment. “If someone has non-obstructive hypertrophic cardiomyopathy and is asymptomatic, they don’t require any treatment,” says Dr. Gold-schmidt. This is because the traditional medications used to treat it only relieve the symptoms; they don’t address what’s causing the heart muscle to thicken, he explains.

People with symptomatic HCM do require treatment, typically with many of the same medications used to treat DCM. And for some people with hypertrophic obstructive

cardiomyopathy, Mavacamten — a drug approved by the FDA in April 2022 — is now an option. “This is the first medication to target the underlying pathophysiology (what’s causing the thick heart muscle) of hypertrophic cardiomyopathy,” says Dr. Goldschmidt.

If medications don’t work or side effects are too severe, non-surgical and surgical procedures can help reduce HCM symptoms. These include alcohol septal ablation, where pure alcohol is injected through a tube and put into
the artery near the area where the heart muscle is thickened. The alcohol kills the tissue, causing it to shrink to normal size.

This procedure is considered minimally invasive, meaning that there are smaller incisions to reduce the wound healing time, associated pain and risk of infection compared to more involved surgeries.

Dr. Goldschmidt notes that another possible treatment is called a septal myectomy — an open-heart surgery to remove part of the thickened heart muscle to relieve the obstruction. Additionally, ICDs or pacemakers are also available for people with HCM. However, if heart damage from HCM or DCM is too severe, a heart transplant may be required.

A Mighty Heart

After his diagnosis, Gurka tried medications for a while and later had an alcohol septal ablation. In 2017, he got
a pacemaker. After recovery, Gurka felt immediate results. “I was able to do more, I got less tired and my heart rate has been consistent, which is nice,” he says. A recent doctor’s visit revealed all is good, and his pacemaker is expected to last many more years.

This is the benefit of early intervention. For people with hypertrophic or dilated cardiomyopathy, Dr. Goldschmidt says that early diagnosis and treatment — whether through medications, devices or procedures — can improve the quality of life and often lengthen it.

Gurka, for one, is enjoying those benefits. He’s come a long way from fearing his cardiomyopathy diagnosis meant living an unfulfilling life or dying. “I’ve learned it doesn’t have to affect your life unreasonably,” he says. “I don’t play racquetball or go jogging anymore, but my wife and I go for walks, we do gardening and, goodness, I do 90% of what I used to do.”