It’s learning my childhood asthma may have been HCM.
It’s living with limitations.
It’s advocating for what matters to me.
The path to a hypertrophic
cardiomyopathy (HCM) diagnosis
can be challenging
Allison,
Diagnosed with HCM in 2020
Actual consented person with HCM.
Diagnosis Delays
HCM can go unrecognized for a long time
Some people may get an HCM diagnosis quickly. But for many it can be a long and frustrating process, taking months or even years from the time symptoms first start. If you’ve been diagnosed, you’ve taken a critical step toward managing your future.
How diagnosis delays can happen
Misdiagnosis is common
Because symptoms are often similar to other conditions, it’s not uncommon for HCM to be mistaken for something else.
People with HCM may be incorrectly diagnosed and treated for more common conditions like asthma, anxiety, mitral valve prolapse, or coronary artery disease (CAD).
People in certain communities are underdiagnosed
People of certain ethnicities or races may be diagnosed with HCM less often than others, and women are often diagnosed later in life than men.
These differences in diagnosis show the importance of increased awareness.
In one study,
60%
of people were misdiagnosed before finding out they had obstructive HCM
Getting diagnosed with HCM sooner is critical
A timely diagnosis puts you on a path toward finding a treatment that can help relieve your symptoms and potentially minimize complications of HCM.
Talk to your provider about getting evaluated for HCM if you have:
- A family history of HCM
- Symptoms of HCM
- An unusual finding on a regular heart test
Some patients may also be diagnosed after experiencing a serious event that sends them to the hospital.
What type of providers diagnose HCM?
- Cardiologists typically diagnose and treat HCM. Some specialize in recognizing and managing HCM and related conditions. They may be able to help you recognize and investigate your symptoms
- HCM specialists are cardiologists who specialize in HCM and are often found in larger medical centers
- HCM specialists can either treat your HCM with their team or alongside your cardiologist
Talk to your cardiologist about being referred to a specialist if you’ve been diagnosed with HCM.
It is important to share how you are feeling with your provider and advocate for more testing if you are unsatisfied with the information you have been provided.
HCM Diagnosis Journeys
Hear from people discussing how they were diagnosed, including delays and misdiagnoses that led to years of going untreated for HCM.
Recognizing & diagnosing HCM
There are several tests to help recognize and diagnose HCM
You may have had one or more tests in your HCM diagnosis journey
Imaging is the gold standard
Echocardiogram (ECHO) is the main test to diagnose HCM. An ECHO uses sound waves to create pictures of your heart, including the heart walls and valves, and how blood flows.
Your cardiologist may also conduct a stress echocardiogram, which shows how your heart is working while you're exercising.
Cardiac magnetic resonance imaging (CMR) is a more detailed image of your heart. This shows the thickness of your heart wall and other key measurements.
Other tests may be performed
Electrocardiograms, also called ECGs or EKGs, record the electrical activity in your heart. This is often one of the first tests that will be run if you have symptoms of a heart condition.
Some cardiologists may use a test called cardiopulmonary exercise testing (CPET) to see how well your heart and lungs are working.
For a more extensive list and description of diagnostic tools used, please visit the HCMA website to learn more
Indicators for Evaluation
For some people, HCM is genetic
Gene mutations in the heart muscle cause HCM in some people. That means it can be passed down from parents to children. Not every person living with HCM will show it on a genetic test. This may be because not all genes responsible for HCM have been identified. Alternatively, not everyone with a gene mutation will develop HCM.
Current HCM guidelines recommend:
Genetic testing and family screening
Following your diagnosis, first-degree relatives (parents, siblings, and children) should be offered clinical screening for HCM and genetic testing, if a genetic cause has been identified for your HCM.
Genetic counseling
Talking to a genetic counselor is recommended before genetic testing. This can help you understand the benefits and any downsides of getting tested. Post-test counseling is also recommended so you understand the findings.
Prenatal planning
Prenatal planning is recommended if you're planning to have a child and a genetic cause is identified within a family. This can involve meeting with a genetic counselor in cooperation with your reproductive healthcare professional.
Family Testing
Learn about the genetic connection in some people with HCM, including the importance of genetic testing for family members who may be affected.
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