In a poster presented at this weekend’s American Heart Association’s Scientific Sessions in Chicago, Drs. Dan Jacoby and Nikolaos Papoutsidakis presented their poster demonstrating the relatively low risk of extreme activities in patients with HCM.
A recent paper published in the journal Circulation looked at the clinical course of approximately 4,600 HCM patients over the course of more than 24,000 clinical years, which the paper describes as the largest comprehensive cohort of HCM patients ever studied.
This study examined patients from eight high volume HCM centers which aggregated their institutional data into a database known as the Sarcomere Human Cardiomyopathy Registry (or the acronym the “SHaRe” for short). The results of the study showed that, in general, HCM patients are at substantially elevated risk for atrial fibrillation and heart failure, and have significantly higher mortality rates than that of the general U.S. population.
The SHaRe Registry centers that participated in the study are:
- Brigham and Women’s Hospital, Boston
- University of Michigan Medical Center
- Stanford University Medical Center
- Boston Children’s Hospital
- Yale-New Haven Hospital
- Careggi University Hospital, Florence, Italy
- Erasmus University Medical Center, Netherlands
- Laboratory of Genetics and Molecular Cardiology, Sao Paulo, Brazil
Working together, these centers, led by Dr. Carolyn Ho, M.D. of Boston’s Brigham and Women’s Hospital, made some significant findings.
Patients with HCM Genetic Mutations Fare Worse: HCM patients with a known genetic mutation were diagnosed with clinical disease at a younger age (37.5 years, compared to 51.1 years for patients without a mutation) and were more than twice as likely to experience HCM-related complications and early death than HCM patients who had a non-genetic form of HCM. Patients with more than one mutation and those who carried a MYH7 mutation were found to have a higher risk of HCM related complications than those with single mutations or those with a MYBPC3 mutation.
HCM Burden Increases Over Time: The burden of disease and complications increased progressively over time for HCM patients, with most HCM-related complications occurring later in life between the ages of 50-70 years. In particular, the researchers found that patients who were less than 40 years old at diagnosis had a 77% chance of having an adverse incident such as a cardiac arrest, heart failure, atrial fibrillation, stroke, or death by the time they reached age 60. The most common complications were heart failure and atrial fibrillation. In contrast, patients diagnosed with HCM after the age of 60 years of age had only a 32% cumulative incidence of such complications by age 70 years.
HCM Mortality is Significant: Mortality among HCM patients was found to be significantly higher than that of the general U.S. Population. In fact, among young HCM patients ages 20 – 29, mortality was found to be four times higher than that of their healthy counterparts.
The lead author of the paper, Dr. Ho, suggests two major takeaways from this research:
1. A young age of diagnosis and the presence (or absence) of sarcomere mutation(s) should be taken into consideration when forming treatment plans.
2. Given that the majority of HCM complications occur later in life, there is need for long-term care and follow-up of HCM patients, as well as for the development of new therapies that prevent long term complications such as heart failure and atrial fibrillation.
The August 16, 2018 online version of the New England Journal of Medicine contains an broad overview of the current state of clinical knowledge and treatment of HCM written by HCM expert Dr. Barry Maron. It is entitled “Clinical Course and Management of Hypertrophic Cardiomyopathy.”
Dr. Maron discusses the many advances that have been made in the diagnosis and treatment of hypertrophic cardiomyopathy since it was first described 55 years ago, noting that life expectancy and qualify of life have dramatically improved in this period of time. According to Dr. Maron, the contemporary management paradigm for HCM have reduced “the risk of adverse cardiovascular events and death to levels below the levels among patients with other cardiac or non-cardiac disorders.”
A recent study by doctors at the Cleveland Clinic suggests that the presence of late gadolinium enhancement (LGE) should be added to the various risk factors currently used to assess patients who are at low or intermediate risk of sudden death. The presence and balancing of these risk factors are used by patients and doctors to determine the need for implantable cardiac defibrillators (ICDs). LGE is an indication of cardiac scar tissue and can be seen on cardiac MRI scans. This study recommended that LGE comprising a total of 15% or more of left ventricular mass be used as an additional risk factor. The study found that this indicator worked equally well when applied to both obstructed and non-obstructive HCM patients.
Interestingly, an earlier but recent study published by Cleveland Clinic doctors found that the risk factors currently in use to determine the need for an ICD fall short as applied to patients with the obstructive form of HCM.
Risk factors in common use today have been propounded by the American College of CardiologyAmerican Heart Association (ACC/AHA) in the U.S., while a different set of guideline and a mathematical risk calculator was promulgated more recently in Europe by the European Society of Cardiology (ESC). You can find more about the ACC/AHA and ESC guidelines here.
A second and related finding of this study by the Cleveland Clinic, known for its large HCM program and high volume of myectomies, was that patients who undego myectomy appear to experience a protective effect from their surgeries. Even when found to have 25% or more LGE, patients in this study who previously underwent myectomy experienced a lower than expected rate of adverse events.
A recent study by doctors at the Cleveland Clinic found that current guidelines used to assess risk of sudden cardiac death (SCD) in HCM fall short when applied to the population of patients with the obstructive form of HCM (HOCM).
The study looked at both the European Society of Cardiology (ESC) and American College of Cardiology (ACC)/American Heart Association (AHA) guidelines, and found that both sets of guidelines came up short in predicting SCD. In particular, the study found that patients who had previously undergone myectomy had a reduced risk of SCD that is not accounted for in existing risk models.
Conversely, the study found that patients with atrial fibrillation had a higher risk of SCD, which is also not reflected in the existing risk models.
A companion editorial by Dr. Harzell Schaff of the Mayo Clinic explains the likely reasons for the myectomy findings, while a second accompanying editorial by Dr. John Jefferies of Cincinnatti Children’s Hospital (who has recently accepted an appointment at the U. of Tennessee Health Science Center in Memphis) maintains that the ESC and ACC/AHA guidelines should be changed to reflect the lower SCD risk following myectomy.
As of July, 2018 the HCMCare.com website and app have been updated to include even more information for HCM patients. Check it out.
NOTE: As of July, 2018 the website and app have been updated to include even more information for HCM patients. Check it out.
Have you heard that there is a new online educational resource about HCM? Check out HCM Care.com, an informational website about HCM developed by MyoKardia in partnership with Duke Clinical Research Institute.
This website features general information about HCM including diagnosis, testing, treatment, lifestyle, genetics and family screening. It is also available as a FREE downloadable app for both Apple and Android operating systems.
- Dr. James Daubert from Duke University Medical Center
- Dr. Milind Desai from Cleveland Clinic
- Dr. Carolyn Ho from Brigham and Women’s Hospital
- Dr. Martin Maron from Tufts Medical Center
- Dr. Andrew Wang from Duke University Medical Center
Be sure to check out HCMCare, as…
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According to this study published recently in the Journal of the American College of Cardiology, whole genome testing may sometimes be used to identify the gene(s) responsible for HCM when targeted genetic testing (the type used in the clinical setting) has been inconclusive.
In particular, the study found the responsible gene(s) in 9 of 26 families (20%) in whom targeted testing had previously been inconclusive.
When used as the initial form of genetic testing, whole genome sequencing identified the responsible HCM gene in 5 of 12 families, or 42%.
According to this article in Wired U.K., a whole genome sequencing test costs about $600 and takes just a few weeks to complete. On the other had, the cost of data storage necessary to store such a large amount of collective data is, according to this article, prohibitively high.
If not for everyone, perhaps whole genome sequencing could be used in families where traditional genetic testing has proven inconclusive. Time will tell.
According to several news reports, CNN chief and former NBCUniversal head Jeff Zucker is taking six weeks off to undergo elective surgery to treat his hypertrophic cardiomyopathy. Specific details about the surgery were not revealed. New York Magazine reported that in 2010 he visited Minneapolis Heart Institute where he was told he needed an implantable defibrillator.
The most common surgery for the treatment of HCM symptoms is a septal myectomy.
See these stories for more info:
HCMBeat wishes Mr. Zucker the best of luck during his surgery and recovery.
Here is a link to some resources we have collected for patients who are going through myectomy: Resources for Patients About Myectomy
This article in Cardiovascular Business discusses the financial benefit to a hospital that adds a center for the treatment of HCM. In particular, hospitals can expect to see higher volumes in the areas of echocardiograms, cardiac MRI, and electrophysiology.
This recent article published in Nature discusses several real-life scenarios in which patients were mistakenly diagnosed with serious genetic cardiac conditions, including HCM, as a result of erroneous direct-to-consumer genetic testing.
These misdiagnoses directly resulted from misinterpretation of raw data by third party interpretation services that were working with raw data provided to them by direct-to-consumer genetic testing companies.
After medical testing, none of the patients discussed in the highlighted cases were ultimately found to have disease or be in need of medical intervention, though all underwent unnecessary medical testing and/or invasive procedures. Some even made radical lifestyle changes as a result of the erroneous genetic information.
This article demonstrates the unreliability of direct-to-consumer genetic testing, which has the potential to cause great upheaval to both patients and the medical system.
As always, patients seeking genetic testing should do their homework. Genetic testing for heart conditions is best when done by the experts – cardiac genetic counselors!
Editor’s Note: Doug Rachac found out that he himself needed an ICD while employed by device manufacturer Medtronic. He now uses his personal experiences to help other device patients learn how to live happily with their implantable devices.
When cardiac patients receive a pacemaker or defibrillator, they often have questions about their new “friend.” They wonder if this new device has limitations, and what those limitations might be.
And they may find that the internet can be, at the same time, both helpful and misleading. Accurate information is out there, but separating truth from fiction is the hard part. To learn the truth, patients turn to their doctors, nurses and clinic device techs for answers, not realizing that sometimes these professionals also give advice based on outdated or incorrect information.
When a patient wants to know if it is safe to scuba dive with their heart condition, they should ask their physician. However, if they want to know how deep it is safe for them to dive with their specific implanted device, instead of asking their physician, they should instead direct their question to the engineers of the device manufacturer who designed and tested the device.
Patients should speak with their doctor to learn if their health condition limits them from certain physical activities (such as scuba diving), but questions about the limitations or capabilities of devices and leads should usually first be directed to the manufacturer of the device – the best source of up-to-date, accurate information. Whenever I am looking for up to date, accurate information about my device, I start with Medtronic, the manufacturer of my implanted device.
Patients can easily find the make and model of their device, as well as learn how to contact their device manufacturer, by calling the Patient Services number located on their Patient ID card.
In this blog article, I’d like to share with you some information regarding two of the most common misconceptions relating to implantable devices out there: 1) magnets are dangerous to implanted devices like pacemakers and defibrillators; and 2) it is unsafe to walk through airport/venue security.
All of the information I discuss below can be found, if you dig deep enough, on each specific manufacturer’s websites.
Magnets: Should We Be Afraid?
All companies advise patients to keep magnets at least 6-8 inches away from their devices for their safety. But the simple answer to the question is NO! You do not need to be afraid of magnets. However, you do need to be aware of how a magnet interacts with your device when you come into contact with one.
A magnet will NOT:
- Scramble the device programming
- Turn the device off
- Turn off pacing
- Damage the device in any way
These common misconceptions are based on devices that are over 10 years old, or are based on a misunderstanding of the truth. In most industry devices a magnet will interact with a pacemaker and defibrillator in the following ways:
Pacemaker or Cardiac Resynchronization Therapy Pacemaker (CRT-P):
A magnet placed on or near a pacemaker/CRT-P device will force the device to pace at a constant, preset rate. Different companies have different preset rates. Medtronic is set to pace 100% of the time at 85 beats per minute (BPM). When the magnet is moved away from the device, the device will immediately revert back to the programming that was input by the doctor or device tech at implant, or that was modified during a subsequent interrogation session.
Defibrillator or Cardiac Resynchronization Therapy Defibrillator (CRT-D):
In most industry devices, a magnet will “inhibit detection” which is a fancy way of saying the device won’t shock you if needed. Once the magnet is removed, the shock function reverts back to normal.
This function is a normal design feature of the devices designed for use by clinicians and doctors. In both types of devices, a magnet will in no way harm the device or alter the programming. The effect of the magnet is only temporary. Once the magnet is moved 6-8 inches away from the device, the device’s normal programming will resume. Some everyday items such as iPad covers, purses, and children’s toys may contain magnets which are strong enough to trigger the magnet response in our devices. However, simply moving those items 6-8 inches away from your device will resolve the issue. Remember, even if you do encounter a strong magnet or magnetic field, it will not harm your device in any way. Simply move away from the magnet/magnetic field and your device will return to its normal operations.
Let me reiterate: a magnet will in no way harm your device, shut it off, or alter the programming.
There was a time when walking through airport or venue security with an implanted device was considered dangerous. This was back when our devices included an electrical component called a Reed Switch. But, over a decade ago, devices evolved after safety issues forced industry to eliminate the Reed Switch in all implanted devices. At the same time, a new international standard emerged setting limits for how much magnetic energy an implanted device needed to be able to withstand. The level is high enough that most forms of magnetic energy encountered in our daily lives are insufficient to interact with our devices in any meaningful way. There are a few exceptions, such as the electromagnetic energy generated by a hydroelectric dam. But, airport archways and hand wands do not generate that level of energy. Companies like Medtronic simply suggest that a patient walk through the airport archway at a normal pace, and that wands are not waved repeatedly over the device multiple times. Aside from those precautions, patients do not need to avoid airport or venue security in any way. Millimeter wave scanners (the one that rotates around you) are also safe to use.
Let me say it again: Pacemaker/ICD/CRT patients do not need to fear airport/venue security checkpoints. Simply walk through the archway at a normal pace, and ask that wands not be waved back and forth over the device repeatedly.
Living with our devices can be stressful enough. It’s my belief that having accurate information is the first step in being able to live the life we want to live, not the life we think we are now forced to live.
My physician was clear when he said, “Your device is there to protect you and allow you to live your life. It is not there to restrict you in any way.”
It’s time to dispel the information of old, and to start living our lives without these old fears. Our devices have evolved over the years so we need not fear magnets or security lines any more. If you would like to learn more about me and living with an implantable device, I have uploaded several videos to my YouTube Channel. You can find specifically about devices, magnetic fields and airport security here.
About Doug Rachac:
Doug Rachac received his implanted Medtronic defibrillator in 2014 due to several episodes of syncope and documented non-sustained ventricular tachycardia. He spent 14 years working for Medtronic, where he worked in multiple areas, including Customer Service, Education, and Quality. He left Medtronic in 2015 to recover, volunteer and to be the world’s best stay-at-home dad. He now advocates for device patients and consults with the medical device industry on patient engagement and patient focused initiatives. You can find him on Twitter @HankEPants.