Hypertrophic cardiomyopathy (HCM) is a heart condition involving thickening heart muscle. This thickening can affect your heart’s ability to sufficiently pump blood out to the rest of your body.
Experts estimate that 1 in 200 to 500 people have HCM, but experts believe that it often goes undiagnosed. Though many cases of HCM have no or few symptoms, it may cause serious complications, such as an atypical heart rhythm, heart failure, or even sudden death.
HCM is treatable and manageable. However, proper diagnosis is a necessary first step.
Should you be screened for hypertrophic cardiomyopathy?
HCM is frequently an inheritable condition. It can occur from mutations or changes in specific genes involved in your heart muscle’s structure. A parent with a genetic mutation for HCM has a 50% chance of passing it down to a child. However, the genetic mutation can occur even if neither parent has it.
If you have a parent, sibling, or child with HCM, experts recommend you have screening using genetic or clinical testing. According to the American Heart Association/American College of Cardiology guidelines, screening for first-degree relatives can begin at any age based on considering medical history and preferences.
Even without a known family history of HCM, let your doctor know whether you have a relative who had a sudden death before 40 years old or whether other heart conditions run in your family. Your doctor may still want to check your heart.
Additionally, notify your doctor about potential HCM symptoms, including:
- dizziness or lightheadedness
- chest pain
- shortness of breath
- irregular heartbeats
- fainting
- fatigue
What testing is used to diagnose hypertrophic cardiomyopathy?
Your doctor may gather information from several sources to diagnose hypertrophic cardiomyopathy. In addition to taking your medical and family history, your doctor may perform a physical exam to listen to your heart and lungs and check for irregularities, like a heart murmur.
Experts often consider an echocardiogram the initial test of choice to diagnose HCM. This noninvasive test uses ultrasound waves to assess your heart’s structure. It can identify whether the heart muscle appears thick and show whether there are atypical heart function changes.
Other testing may include:
- MRI: An MRI can provide detailed images of your heart using a magnetic field and radio waves.
- Electrocardiogram (EKG): This test shows your heart’s electrical activity and can detect irregularities in your heart rhythm. Sometimes, a doctor can use a portable EKG, called a Holter monitor, to measure your heart rhythms for 24 hours or more.
- Stress test: This test involves exercising on a treadmill or stationary bike while an EKG monitors your heart rhythm. A doctor may perform an echocardiogram immediately after exercising to see how your heart responds to exercise.
- Genetic testing: A healthcare professional can draw a blood sample and check for known gene mutations associated with HCM. Genetic testing may allow you to receive an HCM diagnosis before any symptoms are present, but doctors can’t use it to predict the disease’s course.
It’s important to know that repeat screening for HCM may be necessary, especially if you have a family history. Talk with your doctor about the recommended frequency.
Children and adolescents may need testing as often as every year or two, with screenings spread out after adulthood. New genetic variants associated with HCM may be identifiable in the future, so repeat genetic testing may also be necessary.