How HCM is diagnosed

When you have unexplained or worsening symptoms, talking to your doctor is the most important and, sometimes, the hardest thing to do. Here is some information about how HCM is diagnosed and what to do if you are diagnosed with HCM.

Tired? - Short of breath? - Rapid Heartbeat? - Chest pain? - Dizzy

Seeking help

Talking to your doctor about unexplained symptoms can be tough, but it's the most important first step in seeking help.

During your appointment, clearly describe your symptoms and how they affect your daily life. Keeping a symptom diary can help you remember important details. Also, make sure to share any relevant family history, especially if it involves genetic conditions like HCM.

Steffi shares her story about finding the cause of her symptoms and being diagnosed with HCM.

I was just sitting on the sofa at home one day, and I said to my mum, I couldn't breathe. I felt breathless just sitting down.

Steffi

Steffi was compensated for her time in the creation of this video.

Descriptive transcript available here

How is HCM diagnosed?

HCM is usually diagnosed through a combination of your medical history, a physical examination, and specific tests.Cardiomyopathy UK. Hypertrophic Cardiomyopathy - How is HCM diagnosed. Available at https://www.cardiomyopathy.org/about-cardiomyopathy/types-cardiomyopathy/hypertrophic-cardiomyopathy . Last accessed May 2024.

Your doctor may ask you to describe the symptoms you are experiencing and ask about your family history. It’s important to mention any family members with heart issues or who have experienced similar symptoms.NHS, (2023). Cardiomyopathy. Available at: https://www.nhs.uk/conditions/cardiomyopathy/... . Last accessed May 2024.

If your doctor suspects an underlying health condition, they may refer you to a specialist healthcare team. The team might perform these tests:NHS, (2023). Cardiomyopathy. Available at: https://www.nhs.uk/conditions/cardiomyopathy/... . Last accessed May 2024.

Electrocardiogram (ECG): This records the electrical activity of your heart, helping doctors see if there are any abnormalities in the heart’s rate or rhythm.
Echocardiogram (echo): This heart ultrasound is the primary test for diagnosing HCM. It uses sound waves to take pictures of your heart, helping doctors to check if it is working properly.
Magnetic resonance imaging (MRI): If an echo doesn’t provide enough information, an MRI can offer a detailed image of the inside of your body. An MRI scan produces a detailed picture of the inside of your body using strong magnets and radio waves, helping doctors see things like muscles and organs.
Genetic testing: When imaging tests show less thickening of the heart muscle walls, genetic testing may be done to check if HCM has been passed down to you by a family member.
Exercise test: In this test, the heart activity and symptoms are monitored while undergoing a controlled exercise regimen.

HCM can be genetic

HCM is often passed on through families, so it’s described as an inherited condition. If one of your parents has HCM, there’s a 50% chance you might have it too.British Heart Foundation, (2021). Hypertrophic Cardiomyopathy. Available at: https://www.bhf.org.uk/informationsupport/conditions/cardiomyopathy/hypertrophic-cardiomyopathy . Last accessed May 2024.

Understanding that HCM can be genetic is important because:

Knowing your family history of HCM can assist with the diagnosis process. It’s important to know whether you have any relatives who passed away suddenly or unexpectedly before the age of 50, and if there is a history of HCM in your family. Make sure to share this information with your doctor.
If you are diagnosed with HCM, it’s important to share this information with your family. They might also have the condition and early awareness can be important for their health. Your healthcare team may suggest screening first-degree relatives (parents, siblings, and children).Cardiomyopathy UK. Hypertrophic Cardiomyopathy - How is HCM diagnosed. Available at https://www.cardiomyopathy.org/about-cardiomyopathy/types-cardiomyopathy/hypertrophic-cardiomyopathy . Last accessed May 2024. Even if they are not experiencing symptoms, they may be living with the faulty gene that causes HCM unknowingly. If so, further checks and testing would be arranged to help them manage their condition from an early stage.

How is HCM managed?

If you’re diagnosed with HCM, it’s important to discuss treatment options with your medical team.

While HCM cannot usually be cured or prevented, there are treatment and surgical options that may help to control your symptoms. Your specialist healthcare team will work with you to decide on the best option for you.NHS, (2023). Cardiomyopathy. Available at: https://www.nhs.uk/conditions/cardiomyopathy/... . Last accessed May 2024. Heart.org, (2022). Prevention and Treatment of Cardiomyopathy. Available at: https://www.heart.org/en/health-topics/cardiomyopathy/prevention-and-treatment-of-cardiomyopathy . Last accessed May 2024.

Advocating for yourself

If you’ve spoken with your doctor or specialist healthcare team about your symptoms, but you still feel “something isn’t right”, think about talking to them again.

It’s important to be clear about the symptoms you’re experiencing and how they are impacting your life.

Downloads

Download our handy infographic for everything you need to know about HCM

CV-GB-2400089
Date of Preparation: May 2024