Dear [Family Member],
 

I am sending this letter because I want you to have important information about my health, and maybe your health too. I have been diagnosed with hypertrophic cardiomyopathy (HCM). This letter is to help me explain what HCM is, why you should be screened, and what you can do to take care of your heart. It was created by the Hypertrophic Cardiomyopathy Association, which is a non-profit that provides information, support, and advocacy to those affected by HCM, their families, and the medical community.
 

What is HCM? A genetic heart disorder that makes the heart thick and may cause structural changes and electrical problems in the heart. HCM can lead to sudden cardiac arrest and heart failure if not managed properly. If one member of the family has HCM, it is likely that others do as well. This is a dominant genetic disorder - which means you only need one copy of the mutation to have HCM. HCM is very common. Over 1 in 250 people (a million people in the US and tens of millions worldwide) have it or carry a mutation that can cause it.

Why do you need to be screened? It is strongly recommended that all blood relatives in previous generations (parents), my generation (siblings), and the next generation (children) should be screened. Because I have HCM, you should be checked!

What does HCM screening include? Screening for HCM includes a check-up by a cardiologist who has specialized knowledge of HCM. They will perform tests to look at the electrical function and anatomy of your heart. The cardiologist will also review your family history and any symptoms, and may require more testing to verify or rule out a diagnosis of HCM. These tests may include:

• EKG/ECG - Records the electrical signals of the heart. 

  • In HCM, the EKG/ECG usually shows an abnormal electrical signal due to muscle thickening and disorganization of the muscle structure. 

  • In a few patients (5-10%), the EKG/ECG may show no or minor abnormalities. 

  • EKG/ECG abnormalities are not specific to HCM.

• Echocardiogram (Echo) - An ultrasound scan of the heart.

  • Safe, noninvasive. Muscle thickness can usually be measured. 

  • Can assess the contractions and filling of the heart. 

  • Echo/Doppler provides a thorough assessment of HCM. 

• Cardiac MRI (CMR) - Cardiovascular Magnetic Resonance Imaging.

  • Non-invasive uses magnets. 

  • Used to gain a better view of the heart than an echo. 

  • Must be done by a center with a protocol for HCM to ensure proper views. 

Why not just rely on whether you have symptoms? Many symptoms or signs of hypertrophic cardiomyopathy are similar to other conditions. The tests listed allow a specialist to distinguish between HCM and other problems. HCM is often misdiagnosed as asthma, an innocent heart murmur, mitral valve prolapse (MVP), or anxiety attacks. Many people have HCM but no noticeable symptoms.

Where should HCM screening be performed? A cardiologist’s office or medical center can conduct a screening for HCM. But because HCM is poorly understood, you may need to seek out a specialist in HCM for accurate screening. There is a list of HCMA recognized Centers of Excellence at https://4hcm.org/center-of-excellence/.

What are doctors looking for when they perform these tests? They are looking for a thick heart wall. Wall thickness usually increases during puberty, sometimes suddenly between 12 - 14 years of age. Experts believe these changes, while often scary to the family and some physicians, are the normal way the heart forms with HCM and are not a sign of imminent danger. Based on the evidence, it is believed that if the hypertrophy is not present by the time of full growth (about 22 years old), then it is less likely to appear later. It sometimes does, though. It is possible to develop HCM at any point in life, so the recommendation is to continue screening every 3-5 years throughout life. It is also possible to have HCM with no symptoms and be diagnosed later in life.

Is there a genetic test available to see if you are affected? In some families, genetic testing on the first person with a diagnosis can be performed to identify the mutation responsible for HCM. If a family member has had genetic testing, and a mutation was found, you might benefit from also having genetic testing performed.
___  YES - I have had genetic testing - Contact me if you would like to discuss the results
___  YES - I have had genetic testing, but they were unable to find the mutation responsible
___  NO - I have not had genetic testing

What do you do if you find out you have HCM? People with HCM can live long, productive lives. But medical management is essential! You should see an HCM specialist at least once if you have HCM. For more information on these specialists, please visit https://www.4hcm.org. If you have questions about HCM, email support@4hcm.org or call 973-983-7429. 

Sincerely, 

[Your big-hearted family member]