Guest Blogger – When a Seizure is not a Seizure – by Wendy Borsari

It’s strange to think that a chaotic arrhythmia in the heart might actually appear to be a seizure caused by something that has gone haywire in the brain, but with sudden cardiac arrest (SCA) this can sometimes happen.

This is the true story of what happened to my daughter.

On April 11, 2017, less than a week after her 14th birthday, my daughter suffered multiple cardiac arrests.  Two of these incidents were thought to be seizures by those who witnessed them.  And it wasn’t only her dance teacher who saw the first event who called it a seizure, but it was also the paramedic who arrived on the scene in time to see the second one.

After her muscles relaxed and she was still, the paramedic informed me that “it appeared as though” my daughter, “could have an undiagnosed seizure disorder.”  He relayed this information even after I had told him that she had Hypertrophic Cardiomyopathy and had had a previous sudden cardiac arrest that presented the same way.

As I listened to him, my mind was reeling.  My daughter had HCM, but could she also have epilepsy? What would this mean for the rest of her life?

Once hooked up to an EKG machine, it became apparent that the cause of my daughter’s events was cardiac; not neurological, but that didn’t make the situation any less horrifying for me or my husband.  While we’ve known for many years that our daughter was at risk of SCA, I had always imagined it would simply look like she fainted, without movement and breathing.

An ambulance rushed us to the local hospital where my daughter proceeded to have three more events, two of which caused her heart to stop completely!

The last time it happened, it took 2 full minutes of CPR to bring her back.

We were then told she needed to be med-flighted to Boston Children’s Hospital but they wouldn’t transport her until they took appropriate precautions in order to prevent another episode while in the air.

So, with a simple shot of local anesthetic to her neck, the on-call cardiac surgeon put a line into her jugular vein and down into her heart that would regulate her heart rhythm and keep her safe.

It was close to midnight by the time we arrived on the rooftop of Boston Children’s Hospital.  The pacer wire which had been placed in her heart worked, and she didn’t have any more events.  For the first time, I felt that she was safe and would be okay.

Two days later she had a dual chamber implantable defibrillator and pacemaker implanted.  We were all eager to go home and put the terrible events of the previous days behind us.

Though I’m still haunted by the events of that night, I’m so thankful that she was able to get the help she needed right away. But what happens to others whose cardiac events go unrecognized, or to the athlete who collapses on the field and looks like he or she is having a seizure?

I am sharing our story with the hope that it might bring awareness and possibly even save a life.

What Does Cardiac Arrest Look Like?

A person who is having a SCA will often become rigid with muscles seizing, as though suddenly made of stone. With SCA, breathing is non-existent.  You will sometimes hear a sound that is something like a cross between a loud snore and a gasp. This is called agonal breathing, which is actually not breathing at all. Agonal breathing is the brain’s attempt to override the body as it’s being starved for oxygen.  Agonal breathing is present roughly 40% of the time in a cardiac arrest, occurring during the short window of time that an AED shock would still be effective.

With a seizure, there will probably still be breathing, even though it may come in gasps.

It terrifies me to think that a bystander who witnesses a collapse might not reach for the nearest automatic external defibrillator (AED) if the event looked the same as my daughter’s.  Instead, they might call 911 and stand helplessly by, waiting for the paramedics and assuming that there was nothing to be done.

The events of that terrifying night in April will be with me for the rest of my life. I am forever changed by what I saw, and by the sounds I heard coming from my daughter.

However, if sharing my story with others might possibly save someone else’s son or daughter, it might help those awful sounds to fade from my dreams.

 

For more on how to distinguish a SCA from a seizure, see this link.  Please note that this page contains graphic videos which may be disturbing.

About Wendy

Wendy was diagnosed with Hypertrophic Cardiomyopathy at the age of 24. She comes from a family with a long history of HCM and sudden cardiac arrest. There have been 8 heart transplants within her immediate and extended family.

Wendy has 2 children, both of whom have been diagnosed with HCM. Wendy’s daughter was diagnosed at birth and her son at the age of 15.

Wendy now works with the Sarcomeric Human Cardiomyopathy Registry (SHaRe) and educates people about genetic cardiomyopathy through the website www.theshareregistry.org and through her “Affairs of the Heart” patient conferences held around the United States.

You can email Wendy at:  wborsari@shareregistry.org

CRISPR Eliminates HCM Gene !

Scientists, in a follow up to three earlier, less successful, Chinese experiments, have for the first time used a recently developed gene editing process known as “CRISPR” to remove a genetic defect from a human embryo.  The specific defect that the scientists targeted was a mutation in MYBPC3, a common genetic cause of hypertrophic cardiomyopathy (HCM).

What Happened in the Study?

The study authors consisted of a multi-national team of geneticists, cardiologists, fertility experts and embryologists.  Led by Dr. Shoukhrat Mitalipov of Oregon Health Sciences University, in collaboration with researchers at the Salk Institute in La Jolla, CA, China and South Korea, the researchers were able to largely remove the HCM gene MYBPC3 from very early stage human embryos.

Their research involved using eggs from 12 healthy female donors, and sperm from a male HCM patient with the MYBPC3 gene.  When gene-editing components were introduced to the egg along with the sperm, prior to fertilization of the egg, approximately 3/4 of the embryos repaired themselves using the DNA blueprint provided by the normal, non-mutated copy of the gene from the unaffected female.  This was somewhat surprising to researchers, who had theorized that cells would replicate using a blueprint from the repaired paternal gene – not the healthy gene of the mother.

Ultimately, genes were corrected in 42 of 58 embryos, constituting 72.4% of the total, a higher proportion than expected, and far more than any correction shown in previous experiments.

Implications for the Future

This technique is still far from general usage and will require further study and refinement.  And, currently it is not legal in the United States since the Food & Drug Administration currently prohibits medical gene editing which would impact future generations.

However, it would be possible for this technique to be used alongside current technology to assist families with genetic diseases like HCM.  If used in conjunction with pre-implantation genetic testing and in-vitro fertilization (PGD), the technique could repair the large proportion of embryos (roughly 50%) which must be discarded due to genetic defectiveness.

While there are critics who say that this technology will lead to “designer babies” and that it creates troubling ethical issues for society, most HCM patients believe that it provides a ray of hope, so that hopefully one day, in the not-too-distant-future, our children and grandchildren will be free of the affliction that has permeated our lives, as well as the lives of our siblings, our parents, our aunts and uncles, our cousins, our grandparents, and our great-grandparents.

Story Links:

As this story was reported by all major news sources, links to many of the articles can be found below.

Nature

The Atlantic

New York Times

Washington Post.

NPR

LA Times

Los Angeles Times – Q&A video clip with lead study author Shourkhrat Mitalipov

The Guardian

USA Today

MIT Technology Review

Gizmodo

Boston Herald

LA Times article regarding ethics -response to first article

NOTE THAT APPROXIMATELY A MONTH AFTER THE PUBLICATION OF THIS ARTICLE, THE RESULTS HAVE BEEN CALLED INTO QUESTION BY OTHER SCIENTISTS.

See this article in MIT Technology Review, this article in Science Magazinethis article in Nature, and this article in The Scientist, all of which cite this article in BioRxiv which poses alternative theories for the results claimed by the original paper.

A Conversation with Duke’s Dr. Andrew Wang – Creator of the HCM Care App

A few months ago, HCMBeat featured this post about HCM Care, a new educational website and downloadable app for HCM patients and their families, featuring essential information for patients trying to understand their HCM diagnosis, explained in written and video formats.  HCM Care also provides useful information about genetic testing and family screening for their family members.

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Dr. Andrew Wang of Duke University’s HCM Clinic in Durham, N.C., developed HCM Care along with 8 other HCM specialists from 6 hospitals, including Mayo Clinic, Cleveland Clinic and Tufts Medical Center.  Funding and support for the project were provided by MyoKardia, a San Francisco biotech company engaged in the development of a precision medicine approach to the treatment of genetic cardiomyopathies. Their HCM medication, MYK-461, is currently in clinical trials in the U.S.

Cynthia Burstein Waldman of HCM Beat had the opportunity via email to talk with Dr. Wang about his HCM practice and his involvement with the development of HCM Care.  What follows is their written correspondence, edited for clarity:

Continue reading “A Conversation with Duke’s Dr. Andrew Wang – Creator of the HCM Care App”

Unwitting Geneticist Discovers Her Own Cardiomyopathy Gene: Heidi Rehm’s Story

Dr. Heidi Rehm is a human geneticist and clinical laboratory director at Harvard Medical School who has spent much of her career studying the genetics of cardiomyopathy.

Imagine her surprise when she found out that she, her mother and her daughter all have a mutation in the MYH7 gene which has been associated with dilated cardiomyopathy!

The unexpected revelation came as an indirect result of a visit to her daughter’s orthodontist.  When one of her daughter’s teeth was delayed coming in, the orthodontist suggested that there might be a genetic cause for the late tooth.  This provided the idea behind her high school daughter’s summer biology research project: 2 weeks in her mom’s lab sequencing her exome, looking for a genetic cause for her delayed tooth.

Though the mouth genetics turned out to be normal and the tooth eventually arrived, an totally unexpected incidental finding turned up instead:  a variation in the MYH7 gene which has been associated with dilated cardiomyopathy.

Continue reading “Unwitting Geneticist Discovers Her Own Cardiomyopathy Gene: Heidi Rehm’s Story”

Should Alcohol Septal Ablation Be Considered for Younger Patients?

Since the early 1960s, surgical septal reduction, also known as septal myectomy, has been used as a therapy for the treatment of obstructive hypertrophic cardiomyopathy. Pioneered at the National Institute of Health by cardiac surgeon Dr. Glenn Morrow, himself a HCM patient, septal myectomy has become a mainstay of the HCM treatment arsenal.

An alternative to septal myectomy, alcohol septal ablation (ASA), was first performed by Ulrich Sigwart in the United Kingdom at the Royal Brompton Hospital in London in 1994.

For many years, the indications for ASA procedures has been limited to older patients with obstructive HCM who were not otherwise healthy enough to undergo open heart surgery.  However, some doctors are now advocating to expand the indications for ASA to include symptomatic younger patients.

(For more information about myectomy and ASA,  click here and scroll to bottom of page).

Continue reading “Should Alcohol Septal Ablation Be Considered for Younger Patients?”

Pre-Implantation Genetic Testing to Eradicate Genetic Disease- An Editorial

In this editorial by Lee Cooper published in today’s issue of Wired Magazine, a patient with Long QT Syndrome makes the case for the use of pre-implantation genetic diagnosis (PGD) used in tandem with in vitro fertilization (IVF) as a means to eliminate hereditary disease.

This technique has already been used in HCM; most successfully in cases caused by a single, identifiable genetic mutation. PGD combined with IVF is a potentially viable option for patients with HCM who are planning to grow their families.

Of course, there are many ethical issues raised with the use of this technology, and the use (or non-use) of these technologies is a very personal decision.  Perhaps such moral uncertainty is what caused Cooper’s doctors to be “reticent to discuss IVF head on” and “bashful about the idea of removing [t]his disease from [his] lineage.”

As Cooper says in the editorial “…we can, and we must be able to speak clearly about the best ways to prevent disease if we are serious about eliminating it.”  If every option were to be laid out on the table for consideration by the patient, then s/he would have the freedom to make a final decision in accordance with his/her own unique set of values.

What do you think?

RESET-HCM: Rethinking Exercise for HCM Patients – Interview with Dr. Sara Saberi and Dr. Sharlene Day

Editor’s note: This is our first interview feature on HCMBeat.  In the future, we hope to feature more interviews with other HCM researchers who have published articles of interest to the HCM community.  

By now, you have probably already heard the buzz about RESET- HCM – a study about the effects of exercise on HCM patients conducted by Dr. Sara Saberi and Dr. Sharlene Day at the Hypertrophic Cardiomyopathy Clinic of the University of Michigan’s Frankel Cardiovascular Center in collaboration with Dr. Matthew Wheeler and Dr. Euan Ashley of Stanford’s HCM Center. The findings were presented at the American College of Cardiology Conference on March 17, 2017 held in Washington D.C. and were the subject of this feature on HCMBeat. 

Recently, Cynthia Waldman of HCMBeat had the opportunity to sit down with Drs. Saberi and Day for a detailed conversation (over Skype) about the study.  What follows is a transcript of their conversation (which has been edited for readability).

Continue reading “RESET-HCM: Rethinking Exercise for HCM Patients – Interview with Dr. Sara Saberi and Dr. Sharlene Day”

End of the Road for Eleclazine and Liberty HCM Study

 Eleclazine:  The Liberty HCM Trial

It appears to be the end of the road for the Gilead drug eleclazine, a late sodium channel inhibitor previously known as GS-6615.  Eleclazine, with properties similar to the anti-angina drug ranolazine (which was approved by the FDA in 2006), was the subject of a recently terminated HCM clinical trial known as Liberty-HCM.  The HCM eleclazine study focused on whether the drug would improve symptoms and exercise capacity in patients with HCM by increasing their peak oxygen uptake, resulting in improved VO2 max readings on exercise testing.  The HCM study began enrolling patients in February 2015. Data collection had been scheduled to continue through June 2017. Continue reading “End of the Road for Eleclazine and Liberty HCM Study”

Depression: 10 Ways for Heart Patients to Cope Without Using Medication

This highly informative blog article from Carolyn Thomas of Heart Sisters , while targeted toward people with coronary artery disease, contains much useful information which can be applied to heart patients with other conditions as well.  This particular article offers many useful suggestions of ways to help combat depression which could just as easily be implemented by those with HCM.

An added bonus is that most of these suggestions do not involve ingesting anything at all!

One caveat she mentions, which bears repeating, is that you should ALWAYS discuss any type of dietary supplement with your cardiologist before you begin taking it.

Cincinnati Children’s Blog Answers Questions About Genetic Testing for Cardiomyopathies

This informative blog article about genetic testing features practical advice about genetic testing and is taken from answers provided in a live presentation by Drs. John Jefferies and Ivan Wilmot.

Issues addressed include: how the test is administered, insurance issues related to the test and the meaning of a positive genetic test.