The Workup for Hypertrophic Cardiomyopathy (HCM)
- A series of tests are needed to diagnose hypertrophic cardiomyopathy (HCM), a disease that causes the heart muscle to become abnormally thickened.
- This disease often runs in families, so if a close relative has been diagnosed, medical professionals encourage people to consider getting genetic testing.
- Once a diagnosis is established, the treatment plan will depend on several factors, such as the severity of the disease and the patient’s individual condition.
This disease is often passed down through family members (inherited), but it can also develop over time, so even those without a family history should report any new signs or symptoms. People who have a parent with the disease do have a higher chance of having a genetic mutation for HCM.Read More
- Chest pain, especially during exercise
- Fainting, especially during or immediately after exercise
- Heart murmur (an extra noise heard during a heartbeat)
- Sensation of rapid blood, fluttering or pounding heartbeats
- Shortness of breath on exertion
- Fatigue or tiredness
- Lightheadedness or dizziness
- Abnormal heartbeat/rhythm (arrhythmias)
How is Hypertrophic Cardiomyopathy (HCM) Diagnosed?
Some of the symptoms associated with HCM are rather nonspecific—like fatigue or shortness of breath—and could be attributed to a vast number of ailments. This means your doctor will need to conduct a series of tests to make the HCM diagnosis.
Your doctor may perform some or all of the following tests and procedures:
- Health history
- Complete physical exam
- Stress Test
- Genetic Testing
With these, your healthcare team should “be able to, through those modalities, put together a working diagnosis as to why the symptom is the result of the hypertrophic cardiomyopathy,” according to Dr. Weintraub.
Once a diagnosis is made, the treatment plan will depend on the severity of the disease and the patient’s individual case.
“Hypertrophic cardiomyopathy, when not diagnosed and not treated, carries a high incidence of sudden death,” Dr. Weintraub explains. “Therefore, one likes to make the diagnosis of cardiomyopathy secondary to hypertrophic factors, because there are things that could be done to prevent its progression and to, of course, prevent sudden death.”
HCM Diagnostic Tests & Procedures – Defined
As previously mentioned, your healthcare team will want to perform a series of tests and procedures to obtain an adequate diagnosis of hypertrophic cardiomyopathy. Since many of the signs and symptoms associated with the disease can be attributed to some other cardiac conditions, it is important to perform these diagnostic tests to ensure a proper diagnosis is confirmed before moving forward with a treatment plan.
Let’s dive in a bit deeper into the hypertrophic cardiomyopathy workup tests and procedures to get a better idea of what they are and mean to you as the patient.
Electrocardiogram – Typically referred to as an ECG or EKG, this test records the heart’s electrical activity. It monitors the rhythm of your heartbeat and helps identify any irregularities, like arrhythmias.
Echocardiogram – Typically referred to as an Echo, this procedure creates a motion picture of your heart by utilizing sound waves. This helps your healthcare team see the size and shape of your heart, check your heart’s chambers and valves, and if your heart is pumping properly.
Stress Test – This test requires you to perform physical activity, like walking or jogging on an inclined treadmill. This is done to see how your heart functions and pumps blood while under “stress.” If you are not able to do physical activity for any reason, medications can be given to make your heart work harder and beat faster, simulating physical activity or exertion.
Genetic Testing – Genetic testing is typically done by collecting a sample of your DNA via a cheek swab sample. DNA is your “genetic makeup” and sequencing it can show if there are any mutations (errors) in your genes that may cause HCM, amongst other conditions. This type of test is recommended as surveillance if any close relatives have the disease but you are asymptomatic (without symptoms). Doing so will help identify the condition and prepare accordingly before any signs or symptoms begin.
Coming Up with a Treatment Plan
When it comes to treatment, some patients will be able to manage their condition by making some simple, healthy lifestyle adjustments. Others may require medical interventions, like beta blockers (drugs used to manage abnormal heart rhythms) or pacemakers (devices that help the heart to pump blood properly).
Dr. Aeshita Dwivedi, a cardiologist at Lenox Hill Hospital, tells SurvivorNet that regardless of the treatment plan, there are some healthy steps that all patients with HCM should implement into their daily living.
“Living with hypertrophic cardiomyopathy can be challenging for a lot of people, but it is important that you follow up with your healthcare team regularly, so you get the right treatment … and in addition to that, it is also important that you remain active, which means moderate activity,” she explains.
“A lot of patients with hypertrophic cardiomyopathy are restricted from doing strenuous activity because it can actually make their condition even worse. However, it is important to still stay active and [patients] can consider a supervised exercise program to remain active as well.” She also recommends adopting other healthy lifestyle habits, such as eating a balanced diet, reducing alcohol intake, and stress management.
“Excessive alcohol intake or excessive stress on the body in terms of physical or emotional stress can also worsen the condition,” Dr. Dwivedi says. “So, it is important to maintain an overall healthy lifestyle, including a healthy diet and remaining moderately active.”
Moving Forward – Questions to Ask Your Doctor
- What tests are needed for a HCM diagnosis?
- Someone in my family has HCM. Should I get tested?
- Is there anything I can do to manage my disease?
- What symptoms should I be on the lookout for?
- How often will I need to be monitored during and after treatment?