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Hypertrophic cardiomyopathy (HCM) is the most common inherited heart condition in the world, affecting approximately 1 in 500 people. It causes parts of the heart to thicken, which can make it more difficult for the heart to effectively pump out blood to the rest of the body. A large percentage of patients with the genetic predisposition don’t know they have it, as symptom severity varies widely. Fortunately, people with this heart disorder can go on to live normal, fulfilling lives with the help of cardiologists who specialize in managing and treating it.
Types of hypertrophic cardiomyopathy.
Hypertrophic means “excessive thickening,” and cardiomyopathy translates to “heart muscle problem.” In simple terms, HCM is the clinical way of labeling a “thick heart muscle problem.” Unlike other heart problems related to lifestyle choices, like uncontrolled high blood pressure, HCM is unexplained and purely a result of genetic factors.
There are two common types of HCM:
- Obstructive hypertrophic cardiomyopathy - People with this condition have an impairment or blockage where the heart empties blood with each pump. We estimate that about two-thirds of people with HCM have an obstruction.
- Non-obstructive hypertrophic cardiomyopathy - In contrast, non-obstructive HCM refers to an abnormal thickness that involves no impairment to blood emptying. However, patients may have other physiologic consequences.
The distinction between these two types is important because the treatment options vary for each.
Risk factors and the role of genetics.
Because HCM is an inherited heart condition passed down through family genetics, there is no way to prevent it. However, it’s possible to have a genetic predisposition for the disorder without ever experiencing symptoms.
If you have the condition or family members with the condition, genetic counselors can be an incredible resource. At MedStar Health, our board-certified genetic counselors are highly trained and knowledgeable in genetic testing and can help you understand the pros and cons of testing as well as test results. In addition, they’re experts in reproductive counsel and can help you learn vital information about the condition’s impact on first degree relatives. This is helpful even if HCM doesn’t manifest itself, as the gene alterations can still be passed on to the next generation.
While it isn’t preventable, certain lifestyle habits can worsen the condition. For example, people with a genetic predisposition to HCM who also have high blood pressure, diabetes mellitus, or obstructive sleep apnea are more likely to develop more prominent forms of heart thickening than family members who don’t have these other health conditions. As a result, we always advocate healthy behaviors, like eating a well-balanced diet and exercising regularly to help with overall symptoms and quality of life.
Signs and symptoms of hypertrophic cardiomyopathy.
Some patients with this condition don’t know about their genetic predisposition because it doesn’t affect their lives. For others, symptoms can range from mild to severe and include:
- Shortness of breath
- Palpitations (racing heart)
- Leg swelling
- Dizziness or fainting for unexplained reasons
- Chest discomfort
For some, these symptoms worsen while exercising on an incline, even in athletes who stay active. In addition, doctors refer to HCM symptoms as “nonspecific,” which means that patients may have more general feelings of illness, weakness, or discomfort unrelated to specific injury.
Symptoms differ person-to-person, and the condition will also manifest differently among family members with the genetic predisposition. People who do experience symptoms can also have symptoms that worsen or improve at different times of the year or from one year to the next. For that reason, we do repetitive testing over time and adjust treatment based on changes to a patient’s symptoms.
Diagnosis and treatment.
Sometimes this heart disorder is discovered incidentally on tests used for unrelated health reasons. For others, cardiologists use diagnostic tests to confirm or rule out HCM when symptoms are present. The most common diagnostic tests include the following:
- Echocardiogram: This test uses soundwaves via ultrasound to take pictures of the heart so your doctor can analyze its structure and function. An “echo” scan allows your doctor to see areas of the heart that may be unusually thick and how effectively the heart is pumping blood.
- Electrocardiogram (EKG): An EKG monitors and tracks the heart’s electrical signals to evaluate its rhythm and speed, which can indicate irregular thickening.
Sometimes doctors will use information from both of these tests and others to diagnose hypertrophic cardiomyopathy. Your cardiologist will also use this information to determine if you have obstructive or non-obstructive HCM, which affects your treatment options. It’s also important to note that imaging findings may not match symptoms. In other words, someone with HCM can have a high degree of obstruction with virtually no symptoms.
The goal of treatment is to relieve symptoms and prevent worsening of the condition that could become life-threatening. If patients have the obstructive form of HCM, our first line of treatment is often medication called a beta blocker. If this doesn’t clear the obstruction, several other medications can help the heart to relax and more effectively circulate blood to the body, including a recently FDA-approved drug (cardiac myosin inhibitor). For others, surgical procedures may be the best options for thinning out the heart and improving how it empties blood more efficiently.
Watch our Facebook Live discussion on hypertrophic cardiomyopathy with Dr. Patrick Bering and Dr. Sandeep Jani below:
HCM should be managed by an experienced cardiologist with specialized expertise.
Although HCM is very common, treatment is complex and can be time-sensitive. It requires a team of experts who have the experience and training necessary to thoroughly evaluate it and determine the best treatment approach. For example, some people with HCM can be very sensitive to dehydration, while others may have repercussions from too much fluid. An experienced cardiologist will understand how each individual patient with HCM should balance their fluid intake based on their unique case.
At MedStar Health, we offer the full range of diagnostic imaging and testing that allows us to gather all of the necessary information about your heart. Our extensive experience in treating HCM helps us navigate the right treatment path for each patient so they can live a long, healthy life.
