What is the Heart Condition, Hypertrophic Cardiomyopathy (HCM)? What are the Symptoms?

"With each beat, your heart pumps out blood, but in order to do that, it also has to receive the blood," Dr. Aeshita Dwivedi, a cardiologist at Lenox Hill Hospital tells SurvivorNet. "When the walls of the heart get very thick and abnormal, your heart becomes stiff as well as less compliant and it is not able to accept the blood normally as it should."

There are two types of HCMobstructive (where there is an obstruction to the blood flow) and non-obstructive, Dr. Dwivedi explains. What type a person has and how the disease presents will determine which available treatment option is most appropriate.

Diagnosing Hypertrophic Cardiomyopathy

The disease is normally passed down through family members. If you have a parent with hypertrophic cardiomyopathy, you have a 50% chance of having a genetic mutation for the disease as well. Those with close relatives who were diagnosed should speak with their healthcare team about the need for screening and surveillance.

"In some cases, a gene can be identified," Dr. Dwivedi says. "But in others, we are still learning more about the disease and we have not yet identified all the genes that may lead to it. If you are lucky that your family possesses a gene that has been identified, it can be used to screen your first-degree family members, like a brother or sister."

According to the most current clinical guidelines from the American College of Cardiology (ACC) and the American Heart Association (AHA), in first-degree relatives of select patients with genetic or inherited cardiomyopathies, genetic screening and counseling are recommended strategies to detect cardiac disease.

Dr. Philip Weintraub, a Cardiology Specialist based in New York, explained that diagnosis will depend on the results of several tests. "To diagnose the disease, one must take a thorough medical history, perform a complete physical exam, obtain objective studies, including an electrocardiogram and an echocardiogram, and therefore be able to, through those modalities, put together a working diagnosis," he explains.

Hypertrophic Cardiomyopathy Identifying Signs & Symptoms

Aside from understanding the nuances of inherited risk, there are some common signs and symptoms that may indicate a person has HCM. These include the following:

• Chest pain, especially during exercise
• Fainting, especially during or immediately after exercise
• Heart murmur (an extra noise heard during a heartbeat)
• The sensation of rapid blood, fluttering or pounding heartbeats
• Shortness of breath, especially during exercise
• Fatigue

Of course, symptoms such as shortness of breath can be attributed to many other issues. So, it is important to speak with your healthcare team and get a proper diagnosis if you are experiencing any of the symptoms listed above, particularly if hypertrophic cardiomyopathy runs in your family.

At What Age Does Hypertrophic Cardiomyopathy Develop?

Hypertrophic cardiomyopathy can develop at any age. Since most people present without symptoms, they may live a normal life for many years without knowing they have the condition.

The majority of HCM diagnoses occur in middle-aged adults, while a large percentage of patients remain undiagnosed. A confirmed diagnosis is typically made when associated symptoms start to become bothersome or during routine surveillance if family history is known.

Even though the condition itself can develop at a very young age or in adolescence, signs of the disease may remain absent earlier in life because, at this stage, the heart is still developing and strengthening. Thus, as a patient grows and matures, symptoms may not manifest until early adulthood or even many years thereafter.

Nevertheless, HCM has been deemed one of the most common causes of cardiac death in those < 30 years of age.

Treating HCM

How HCM is treated depends significantly on the individual patient as well as the severity of the disease. Treating and managing the disease include either one of the following options:

• Lifestyle modifications
• Beta-blockers (drugs used to manage abnormal heart rhythms)
• Pacemakers (devices that help the heart to pump blood)

"In some cases, a patient can use lifestyle modification if they are asymptomatic (without symptoms) or less than symptomatic. In the more severe cases, a patient may need to bring in an arsenal of medications," Dr. Weintraub explains. "In the past, we have utilized beta blockers, [which are] drugs that block adrenaline from the body with the thought process being that if you could decrease the contractility of the left ventricle, you will decrease the amount of obstruction that occurs when the blood is being pumped out of the heart."

Dr. Weintraub also notes that pacemakers have been successful for certain patients. Moreover, some healthcare teams may decide to take a combination approach, using multiple techniques together to decrease symptoms and increase longevity.

Healthy Living with HCM

It is important for people who have been diagnosed with HCM to communicate with their doctors regularly, Dr. Dwivedi says. Maintaining a healthy lifestyle is also crucial in all cases. "It is also important that you remain active, which means moderate activity," she says. "A lot of patients with hypertrophic cardiomyopathy are restricted from doing strenuous activity because it can actually make their condition worse, but it is of utmost importance to still stay active."

Dr. Dwivedi recommends healthy habits, such as:

• Moderate (or supervised) exercise
• Avoiding excessive alcohol intake
• Avoiding excessive stress on the body
• Maintaining a balanced diet

Moving Forward – Questions to Ask Your Doctor

• What kind of symptoms should I be on the lookout for?
• Is treatment for my HCM needed?
• What kind of lifestyle modifications do I need?
• How often will I need to be monitored?
• What type of physical activity or exercise is right for me?

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