Top Questions About Genetic Testing for Cardiomyopathy

Genetic testing can be a powerful tool in the management of cardiomyopathy. Familial cardiomyopathy is a disease of the heart muscle that is passed down through a family’s genes. It is a very serious disease that can lead to heart failure and is a frequent cause of sudden cardiac arrest in children.

These five types of cardiomyopathy can be related to a person’s genetic makeup:

Familial cardiomyopathy is caused by a change, or mutation, in a gene. The good news about this is that genetic testing often can identify the gene mutation. Then, other family members can be tested for that specific mutation. We can then determine if those individuals could be at risk for also developing cardiomyopathy.

The benefits of knowing this genetic information are many. You may learn answers to questions such as, Could my child one day develop this disease? What symptoms should I be on the lookout for? Should I or my family members be seen regularly by a cardiologist? Is it OK for my child to play sports?

At our Cardiomyopathy Program, we see both adults and children with cardiomyopathy. Genetic testing is one component of the comprehensive care we provide these families. When someone is considering genetic testing for cardiomyopathy, these are the questions I hear most often:

What is involved in genetic testing?
Testing is done with a simple blood draw. (For someone with an extreme phobia of needles, a saliva test could be an option.)

For the first family member getting testing done, the results will be ready in about three to four months. Once ready, one of our genetic counselors will call you to explain the results. You can also make an appointment to come in and discuss your results.

Is the cost covered by insurance?
In many cases, health insurance plans will cover all or part of the costs of genetic testing when a doctor recommends it. However, health insurance providers have different policies about which tests are covered. Our genetic counselors help navigate the insurance system so you know prior to testing what to expect.

If you’re uninsured, our counselors can work with you to find a program that could help cover the cost, or to work out a payment plan.

Will a positive result affect my or my child’s ability to get health insurance?
A federal law named the Genetic Information Nondiscrimination Act (GINA) was passed in 2008 making it illegal for a health insurance company to change your premiums or deny you coverage based on genetic test results. This means that even if you need to change health insurance companies, the new company cannot discriminate against you or your family based on a genetic test result.

What do the results mean?
We first start with genetic testing in a family with an individual who has been diagnosed with a form of familial cardiomyopathy. Let’s say I see an adult patient named Sarah who has hypertrophic cardiomyopathy. We do genetic testing on her and find out she has a gene mutation that caused her heart disease. We then test her son, Michael, to see if he has the same gene mutation.

If Michael’s test results are negative, this means he did not inherit the gene mutation that caused the cardiomyopathy in his mother. In this case, routine cardiac screening would not be recommended for Michael. Essentially, he is “in the clear” for this form of cardiomyopathy and would not have to return to a cardiologist for this particular condition. Families who receive a negative result often say it gives them a great sense of relief and peace of mind.

If Michael’s test results are positive, this means he did inherit the gene mutation that caused the cardiomyopathy in his mother. In this case, Michael:

  • Might already have the disease but has no symptoms yet,
  • Might already have the disease with the symptoms wrongly attributed to another medical condition, or
  • Might not yet have the disease but is at risk to develop it later in life.

With these results in hand, Sarah and Michael can now better prepare themselves for the road ahead of them. They will know that Michael should be followed by a cardiologist for the rest of his life. They’ll learn what symptoms to watch for. They’ll find out if Michael needs to make certain lifestyle changes, such as limiting sports. Because the end result of this disease is sometimes a sudden and unexpected death, having the genetic test results can be very empowering.

If Michael had children, I would recommend that they go through genetic testing as well.

While this may be a simplified example, I hope it helps families get a better sense of how powerful genetic testing for cardiomyopathy can be. If you are considering genetic testing for your family, please keep in mind that it does have limitations. We don’t yet know all of the gene mutations that cause cardiomyopathy. Sometimes the test comes back with what is called an uninformative or inconclusive result. Whatever your results, we will take the time to fully explain them so you are better educated about your and your family’s heart health.

If you have questions, or would like to request an appointment, please contact our Heart Institute.

Editor’s note: We hosted a live event in Sept. 2015, in which John Lynn Jefferies, MD, and Ivan Wilmot, MD, answered questions from families about genetic testing for cardiomyopathy. You can watch the broadcast here.

Dr. John Lynn Jefferies

About the Author: Dr. John Lynn Jefferies

John Lynn Jefferies, MD, is director of the Cardiomyopathy and Advanced Heart Failure Clinic at Cincinnati Children’s Heart Institute. He has authored more than 120 peer reviewed publications and edits two textbooks on the topic of cardiomyopathy and heart failure.

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Comments

  1. a August 28, 22:16
    I had congenital sub aortic stenosis. Surgery @ 12, and now at 56 after contracting endocarditis, another surgery to correct IHSS as well as valve replacement and by-passes. I had taken my boys to Childrens back in 90's and they checked out ok. Now that they are grown should I have them checked again? And what about the grandbabies?
    • Dr. John Lynn Jefferies
      Dr. John Lynn Jefferies Author August 31, 11:45
      Hi A, Yes, typically in this situation I would recommend that they be checked again, and I might recommend that you consider having genetic testing for IHSS.
  2. sue moritt August 29, 16:15
    I have had a transplant. I hear the chances of inheriting the gene is 50/50 but my grandmother had 4 out of 4 children with it and I have 3 out of 3. I am jewish and it seems that those of my relatives who have married non jews have had a lesser chance of having children with it including my cousin who has also had a transplant.
    • Dr. John Lynn Jefferies
      Dr. John Lynn Jefferies Author August 31, 11:47
      Hi Sue, Thanks for reaching out. There are genetic diseases that run more in certain ethnic populations such as Jewish descendancy but this is likely more related to the family specifically than the heritage. Your family might want consider genetic testing.
  3. Susie November 23, 15:18
    Hi, my 4 year old nephew had restrictive cardiomyopathy and he passed away 3 years ago. Should I have my children tested?
    • Rachel Camper
      Rachel Camper December 11, 12:04
      Hi Susie, I reached out to our cardiomyopathy team. They said that it is typical for someone with restrictive cardiomyopathy to have a genetic basis. Both genetic and cardiovascular testing can be performed to help determine the likelihood of it occurring in other family members. We would be happy to see your child in our clinic to determine if such testing is recommended, or help refer you to a local center where you can receive such an evaluation. Here is a web page with more information and how to contact us: http://www.cincinnatichildrens.org/service/c/cardiomyopathy/genetic-testing/
  4. Victoria September 21, 00:17
    Dr. Jefferies, My father had DCM,I contracted it,my sister died of it,my son contracted it,my two nephews now have it also. Should I do genetic testing along with my son or just my son and his three children who are 16,13 and 10 years old. Both grandsons are very active in soccer and I worry about them.All of us were diagnosed with DCM at 38 years old(my son) being the youngest to 55. My sister had extensive testing and she is clear,yet her second son was just diagnosed with DCM. Would she be a "carrier?" Two sons almost at heart transplant stage. Can she have genetic testing as a carrier and also her third son and his daughter? She has endured so much already with the failing health of two of her sons. Thank you
    • Dr. John Lynn Jefferies
      Dr. John Lynn Jefferies Author September 21, 12:29
      Hi Victoria, Yes, with the information that I have, it does sound like genetic testing could be beneficial here. We would be happy to speak with you or see you in our clinic. Our phone number (844-227-7307) and more information can be found in this section of our website: https://www.cincinnatichildrens.org/service/c/cardiomyopathy/contact
  5. janet November 08, 13:56
    My 54 year old brother has been diagnosed with hypertrophic cardiomyopathy. I am 58 and recently had an echogram which was normal. Should my children (ages 20 and 28) be tested? Also wondering about grandchildren.
    • Dr. John Lynn Jefferies
      Dr. John Lynn Jefferies Author November 17, 13:38
      Hi Janet, Genetic screening could be considered in your brother. If a pathogenic mutation was found, you could be tested. If you carry the mutation, testing of your children would be suggested for the same mutation. We would be happy to discuss this further in our clinic for additional discussion and management. You can call 844-227-7307 or fill out the online for for more information: https://www.cincinnatichildrens.org/service/c/cardiomyopathy/contact
  6. M March 22, 19:12
    I have mitral valve prolapse and left ventricle non-compaction cardiomyopathy and had a sudden cardiac arrest at age 63. I'm now fitted with an ICD and had genetic testing but came back as an 'outlier' (no known genetic link). Two of my aunts had SCA's, one at age 42, one at 60 and a cousin at age 40. My daughter had mitral valve repair at age 34 and just got her ICD due to v-tach. Should I have genetic testing again in the future to see if there are any other genes that have been identified? Is there on-going decoding happening? All my children (4) are of child bearing ages and we are having them all followed by a pediatric cardiologist at UCLA.
    • Dr. John Lynn Jefferies
      Dr. John Lynn Jefferies Author March 23, 13:10
      Hi M, I think it would be reasonable to consider genetic testing again in a few years as newer genes will likely be reported in that time.
  7. Mary March 27, 01:59
    Hello Dr Jeffries, I found out it had cardiomyopathy with left venticular hypertrophy, EF of 25 to 30% in 2008. The dr did all sorts of testing with negative cath and called it idiopathic cardiomyopathy from a virus likely. 6 months of max carvedilol 25mg bid and lisinopril 10mg did not help ejection fraction so had CRT-D implanted with 45 to 50% EF. So my question is Can my four adult children inherit this from me? My Dr says no. My daughter has PVCs. Just curious as i have 9 grandchildren too. What is criteria for having a gene for this? Only member who died suddenly was a grandmother maternal at 47 six months after a csection in 1929. It was said to be an embolism. Thank you.
    • Dr. John Lynn Jefferies
      Dr. John Lynn Jefferies Author April 04, 12:29
      Hi Mary, It is possible that your cardiomyopathy is genetically triggered. Have you talked with your provider about genetic testing? We would be happy to see you in our clinic if you are local or are willing to make the trip. You can contact us at this number: 513-803-1746 or fill out a request form here: https://www.cincinnatichildrens.org/service/c/cardiomyopathy/contact