Is Whole Genome Sequencing a Better Method for HCM Genetic Testing?

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.

Is Direct-to-Consumer Genetic Testing Helpful or Harmful to HCM Families?

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!

Guest Blogger Doug Rachac – Magnets and Airports: Should ICD Patients Be Afraid?

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.

Airport/Venue Security:

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.

Guest Blogger – Ron Petrovich of Mayo Clinic’s Public Affairs Department Shares His Tips for Myectomy Recovery

A high-voltage song from the band AC DC rocks my headset, jolts my brain, legs, arms, and attitude. Deep below the bone-crunching guitar of “It’s A Long Way to the Top (If You Wanna Rock ‘N’ Roll)”, an accompanying hard-driving riff powers something bigger; it goes thump, thump, thump, thump, thump. I’m winded, gasp for air, and my face turns red. When I press my fingers against my sweaty neck, I count 125 thumps a minute and relish every breath.

I’m running sprints and have only been able to listen to my heart beat like this since open-heart surgery at Mayo Clinic. I was diagnosed with hypertrophic cardiomyopathy (my story) a few years ago, a condition that inhibits blood flow because the heart muscle is too thick. I tried medicine, but decided that a procedure to remove a part of that muscle, a septal myectomy, was my best option. Immediately after surgery, a new sound with a steady rhythm and powerful cadence played through my body; this music to my ears was my new and improved heartbeat, which continues today, nearly three years later.

Over this time, I have seen a lot of similar questions about HCM surgery on social media sites. After my positive experience, I wanted to share some HCM CARE tips to help patients and families prepare for surgery:

Help – Prior to surgery; get help at home and at work. Line up a caregiver, friend, or family member for two weeks after surgery. My wife was amazing and without her, I believe I would have suffered setbacks. If you work and have a leave of absence policy, make arrangements as early as possible and try to detach from work during your recovery. In my case, that helped me recover physically and mentally.

Clean – Follow wound prep instructions precisely before and after surgery. Prepare as many laundered clean towels and wash cloths as you can before leaving for the hospital, if possible, at least 20. These need to be clean every day when you get home, so load up. In my case it was also recommended to use liquid, not bar soap.

Meals – Try to buy or prepare two weeks of frozen dinners and lunches. You might not feel like bending over after you return home. This also offers the opportunity eat healthy.

Chair – If you have a seat to recline in, great. I didn’t, and that would be one of my top recommendations. If you can afford to buy a chair or rent one of those seats that props you up, please consider that. The first few weeks after surgery, I felt like a turtle trying to roll upright after tipping over.

Area restaurants and hotels – I live in Rochester, Minnesota and work at Mayo Clinic in Communications, so this experience was easier for me, but a lot of people ask for a list of hotels and restaurants.

Rehab – Studies show that people who participate in rehab have an improved long-term outcome. When I came home, my wife would take me to the mall and I would shuffle from store to store until I built up enough stamina to work out. This report from our Mayo Clinic News Network on my cardiac rehab from about two years ago shows the benefits. Also, if it is offered to you, I recommend massages by an occupational therapist who can work the muscles that have been traumatized. I began this in the hospital and believe it helped me.

Exhale and inhale – My biggest surprise was low lung capacity. Even though my daughters tried to make me laugh in the hospital, I could barely make a squeaking sound. I used a spirometer (not quite like the one in the picture but a smaller version) to learn how to exhale and inhale after being placed on the heart-lung machine during surgery. The goal or incentive of the spirometer is to open the air sacs in your lungs, making it easier to breathe deeply and keep your lungs clear. It is believed that proper usage may speed up your recovery time while reducing your risk of developing pneumonia or other breathing problems.

Additionally, no matter how many pictures and videos as you see before your surgery, it’s still surprising to see wires and tubes coming out of your chest.

Everyone’s experience is unique, so always please keep that in mind. I would go through it again in a heartbeat (pun intended) and as I have said often, the team at Mayo exceeded all of my expectations.

The intense pain following surgery subsided after the first few days and today, I feel decades younger. I have high exercise tolerance and on most days, my overall energy level is very good. However, I occasionally experience bouts of low energy, and when that happens, I try to lay low and sleep. Atypically, my appetite is less than it was prior to surgery and my food tastes have changed. That’s good in that I lost a healthy amount of weight, but bad because I don’t enjoy my wife’s fantastic cooking like I used to. While my heart is doing well, I have experienced frequent back pain over the past few years. I have gone through physical therapy and am told my core is strong, but I continue to address this challenge.

Social media was an invaluable resource to learn about HCM and preparing to make a decision about surgery.   In addition to Mayo’s online information about HCM surgery I also  found support on the Hypertrophic Cardiomyopathy Forum on Mayo Clinic Connect as well as on Facebook in the Mayo Clinic HCM Patients Group and on the blog by fellow patient Cynthia Burstein Waldman, HCMBeat.

I felt prepared because I read posts and blogs from other patients, conducted a lot of research, and felt informed going into this. I do wish that I would have connected with more patients to learn about the post-operative challenges after going home. My surgery was a great success and I hope this post can help make your experience even better.

For those of you who have had surgery, what tips would you add ?

About Ron Petrovich:

Ron Petrovich has had a long career in journalism and public relations and has worked at Mayo Clinic since 2010.  He currently serves as Communications Director, News and News Delivery in Mayo Clinic’s Department of Public Affairs.

Ron was diagnosed with HCM while an employee at Mayo Clinic (see his story here) and now generously shares the benefit of his experience in order to help others on the same journey.  You can find him on Twitter @RonaldPetrovich.

 

Editor’s Note:  If you are thinking of visiting Mayo Clinic for HCM treatment, you may also find this post from the SADS Channel blog informative.

Riding Rollercoasters with HCM: A Conversation with Yale’s Dr. Daniel Jacoby and Dr. Nikolaos Papoutsidakis

Editor’s Note:  A few weeks ago I had the chance to sit down over Skype to talk with Yale University Medical Center’s Dr. Daniel Jacoby and Dr. Nikolaos Papoutsidakis about HCM patients who engage in thrill-seeking activities. 

Drs. Jacoby and Papoutsidakis are currently circulating a questionnaire via the internet in connection with a study they are engaged in related to the safety of these activities. They are hoping to obtain at least 500 more responses to their questionnaire from HCM patients around the world in the next two months. Keep reading to learn more about the study, and if you want to participate, a link to the survey is provided at the end of this article.

Are you a HCM patient who has ever wondered whether it was safe to ride on a roller coaster?  Well, it turns out that this question is one that HCM doctors encounter quite frequently from their patients. This question and the lack of empirical evidence about its safety inspired doctors at Yale School of Medicine and Yale New Haven Health Heart and Vascular Center to design a study to answer the question whether thrill-seeking activities are safe for HCM patients.

The literature about HCM is full of warnings against activities thought to be unsafe for patients with the standard response being “No!”  With the knowledge that patients ARE actually out there engaging in such activities, Drs. Jacoby and Papoutsidakis decided to go out to the internet and crowdsource more information.

Having already surveyed patients at Yale, the doctors sought to generate more data – their goal is at least 500 additional patients in the next two months – by crowdsourcing enough data to enable them to put together a statistically significant sample which could be written up in a medical journal. This information would serve as a resource to doctors caring for HCM patients who could bring data to the conversation with patients when asked about rollercoasters or other thrill seeking activities.

The activities chosen for the study’s questionnaire were specifically chosen from previously published literature describing high risk activities believed to be unsafe by most practitioners.

These activities are:

  • Rollercoaster riding
  • Jet Skiing
  • Rafting
  • Bungee Jumping
  • Rappelling
  • Paragliding
  • Kayaking/Canoeing
  • Motor Racing
  • Snowboarding
  • BASE jumping
  • Skydiving

The questionnaire also seeks to learn what lifestyle information has been provided to patients by their cardiologists.  As an adjunct to the study about thrill-seeking, the researchers also plan to examine whether there is a difference between patient lifestyle and/or overall health when treated by a community-based general cardiologist versus a HCM expert.

Drs. Jacoby and Papoutsidakis emphasized that the shared decision making process is an important facet of the patient/physician relationship for HCM patients. Risks should be explained, and decisions made with each patient’s set of values and priorities in mind. The doctors hope that the results from this study will help facilitate the shared decision-making process as it applies to activities that involve any amount of patient risk-taking.

Dr. Jacoby knows the importance of shared decision making between physician and patient from personal experience.  He and other members of his family have a genetic condition known as hypercholesterolemia, a condition that can cause early heart attacks. This gives him unique insight into what it means to be a cardiac patient and provided his young self with an unpleasant awareness of the fact that people may die early from heart issues.  This, for him, was an eye-opening experience and gives him a unique ability to understand and empathize with HCM patients who face similar issues every day and informs his professional goal of helping his patients live their best and most fulfilling lives.

Both doctors shared that although some might think that riding on rollercoasters or participation in extreme sports may seem to be a frivolous or unnecessary subject for scientific study, this is actually an issue that may genuinely impact the quality of life of certain patients.  Drs. Jacoby and Papoutsidakis want to help patients feel more reassured about engaging in these activities so that they can continue to enjoy activities that give them pleasure.  After all, acceptable quality of life and activities which provide fulfillment are subjective.

About the researchers:

Dr. Nikolaos Papoutsidakis is a research scientist at Yale. He received M.D. and Ph.D. degrees and his cardiology training in Greece at the University of Athens. Around two years ago, he joined Dr. Jacoby’s team as an Associate Research Scientist to work on cardiomyopathy research projects with an emphasis on HCM. Yale patients may recognize him because he often shadows Dr. Jacoby in clinic to keep track of patient data for the Yale Inherited Cardiomyopathies database. He was responsible for the design of the current survey, tracking of responses and correlating data.

Dr. Daniel Jacoby is the founder of the Yale Inherited Cardiomyopathy Program and runs the HCM Clinic at Yale where he treats approximately 500 HCM patients.  Dr. Jacoby’s undergraduate and medical degrees are both from Yale.  When a fellow at Columbia Presbyterian hospital in New York City, he took care of a young Venezuelan patient who suffered from HCM and this piqued his interest in HCM. After completing his training in NYC, he returned to New Haven to join the faculty at Yale Medical School in 2009.  At Yale, he had the opportunity to collaborate with longtime HCM expert Professor William McKenna, then of University College London, through a collaborative program between Yale and the University of London.

NOW THAT YOU HAVE READ ALL ABOUT THE SURVEY, FILL OUT A QUESTIONNAIRE YOURSELF! THE LINK IS JUST BELOW.  IT SHOULD ONLY TAKE YOU A FEW MINUTES.

Welcome to the Hypertrophic Cardiomyopathy and Thrill-seeking Activities Survey page!

Electric & Hybrid Cars: A Safe Choice for ICD & Pacemaker Patients

Car Shopping

Recently, I began shopping for a new car.  The process is overwhelming! There are so many factors to consider when looking for a new vehicle: gas mileage, sedans vs. hatchbacks, SUVs…the list goes on and on.  Electrics and hybrids are all the rage here in Southern California, but I wasn’t sure if they would be safe for me to drive because I have an implantable defibrillator which also functions as a pacemaker.

German Study: Safety of Popular European Electric Cars

Lucky for me, I didn’t have to wait too long for an answer to my question.  According to a recent German study published in the Annals of Internal Medicinepeople with implanted cardiac devices can safely drive the most common electric cars on the market today.  This study measured the magnetic field strength in four electric cars with the largest market share in Europe: the BMW i3, Nissan Leaf, Tesla Model 85S, and the Volkswagen e-up!  Though the study found that recent models of all of these cars were safe, the authors of this study did caution that future models could potentially cause interference with implantable cardiac devices, depending on  their design.

For more on the recent German study, see these articles at Reuters, Medical Xpress.com and TechTimes.

2017 AHA Preliminary Data – Tesla

The findings from the German study added to preliminary data presented at a 2017 meeting of the American Heart Association.

Tesla Charging

Participants’ devices were monitored for electromagnetic interference while they sat in or stood near a Tesla S P90D.  Testing was done with the study participants situated in a variety of positions—sitting in the driver’s seat, passenger seat, backseat and standing next to the charging port.

The study found that sitting in, or standing close to the charging port of a Tesla while the car was charging at a 220 volt charging station did not trigger an ICD shock or cause interference with the assorted implantable defibrillators. 

2013 Mayo Clinic Study – Toyota Prius

Lastly, Mayo Clinic cardiologists presented similar findings at the American College of Cardiology meeting in 2013.

56050078 - gray toyota prius hybrid - sideviewThat early study found no issues when patients implanted with ICDs and/or pacemakers drove a 2012 Toyota Prius hybrid at 30 mph, 60 mph and at variable speeds of acceleration and deceleration, as well as sitting in the driver’s seat, the front passenger seat, the left and right rear seats and in front of and behind the car from the outside.  Although the researchers found that the implantable devices were exposed to electromagnetic fields inside the car, the amount of interference wasn’t significant enough to cause problems with the devices.

For more on the 2013 Mayo study, see this article in Popular Science.

 

Now that I know that driving these cars is safe for me, I will be out on a test drive trying to narrow down my options!

Restyle HCM Study: Ranolazine Doesn’t Improve HOCM Heart Failure Symptoms

Dr. Iacopo Olivotto and a team of Italian researchers conducted a recent multi-center trial of the late sodium channel blocker ranolazine.  The results of the trial showed that the drug failed to improve functional capacity, diastolic function, quality of life or brain natriuretic peptide (BNP) levels in 80 non-obstructive HCM patients.

Nevertheless, the researchers found that ranolazine is a very safe drug which may still be useful in the treatment of HCM by reducing arrhythmias and improving angina.

A companion editorial by Dr. Perry Elliot from the U.K. shed light on the difficulties inherent in designing clinical trials for HCM.  Dr. Elliot noted that Restyle HCM was the third unsuccessful attempt at finding a new drug for HCM in the past year since a study on  eleclazine, a drug with similar properties, and another for the drug perhexilene were both halted last year due to lack of efficacy.

Regardless, Dr. Elliot stated that increasing worldwide collaboration between HCM centers and expanding knowledge of certain sub-types of HCM treatable with specifically targeted therapies substantially improve the outlook for upcoming HCM drug trials.

Doctor with HCM Calls for Patient Access to Medical Device Data

In an editorial entitled “It’s My Heart, Why Not My Data” by Dr. Ira Nash in the January 2, 2018 edition of Circulation, Nash calls for device manufactures to allow patients to access the data generated by their implantable devices.

Nash, a cardiologist who himself has hypertrophic cardiomyopathy, calls the paternalistic practice of limiting data access to physicians anachronistic in a world which has become more and more focused on empowering patients to make collaborative decisions with their physician.

Dr. Nash explains in a postscript to the article that after being denied patient access to the data generated by his implantable loop recorder, he was ultimately granted access to his data as a physician. Most of us don’t have that ability.  It would certainly be nice if patients were given the option to access their data simply because it is most important and relevant to them.  It is the patient’s life, after all, which is at stake.

Sudden Cardiac Death in Young Athletes

Editor’s Note:  This post originally appeared on the blog of Dr. Howard J. Luks. Dr. Luks  wrote this blog entry in collaboration with HCM expert Dr. Srihari S. Naidu of New York’s Westchester Medical Center. You can find the original post here.  You can find both Dr. Luks and Dr. Naidu on Twitter @hjluks and @SrihariNaiduMD.

Sudden cardiac death in young athletes continues with alarming frequency.  The most common cause of sudden death in the young athlete is hypertrophic cardiomyopathy or HCM.  Simply put, HCM means the heart muscle is bigger.  Many of us believe that bigger muscle means stronger muscle.  That is not always the case with the heart.  The heart is a mechanical pump with a complex arrangement of chambers which store the blood. How that pump works is controlled by a very complex electrical system.  Hypertrophic cardiomyopathy can interfere with one or both of these critical functions of the heart and lead to sudden cardiac death.

Continue reading “Sudden Cardiac Death in Young Athletes”

HIGHLIGHTS FROM THE INTERNATIONAL HCM SUMMIT, PART IV

Editor’s Note:  This is the 4th of 4 blog entries which summarizes the presentations given at the recent International HCM Summit VI in Boston.  The presenter and their hospital affiliation are noted below, along with the topic of their presentation.  When possible, you may access the presenters’ slides via hyperlink by clicking on the name. (Note that not all presenters made their slides available).

To see Part I of this series of highlights from the HCM Summit VI, click here, to see Part II of this series click here, and to see part III of this series. click here.

Continue reading “HIGHLIGHTS FROM THE INTERNATIONAL HCM SUMMIT, PART IV”