My Hypertrophic Cardiomyopathy Part One: Diagnosis & Medication

From mid-September 2022 through the end of the year, my wife and I have had several challenges involving more than one family member, and we knew we would enter the new year with some uncertainty.

As I wrote in my "2022 Reflections" blog post, I was very active last year, but I ended the year having reservations on what the new year would bring.

Last year, I backpacked a section of the Contiental Divide Trail for 22 days starting on April 7, 2022; pushed my dad in a wheelchair at many art and park venues in Greater Cleveland; participated in the Buckeye Trail Association's 2022 Biggest Day Bike/Hike; rode my bike at the Canalway Partners 2022 Cuyahoga River Rally; took many walks in local parks both with and without my wife, Julie; and did much more, some of which you can read about in my past blog posts.

The two blog posts that best give an overview of my 2022 activities are the following:

• Blog Date: January 22, 2023 - Belated New Year Thank Yous & 2022 Reflections

• Blog Date: March 8, 2023 - sosAssociates.com Blogiversary: Eleven

With all of these activities in 2022, and throughout my life, you would not know that I had a progressive, genetic heart disease that would lead me to have to stop almost all my activities as I started 2023.

While there was no clue that I was destined to have a debilitating heart condition, I was mentally prepared for a similar eventuality. Over the last ten years, as I have been section-backpacking the Appalachian Trail, I met several men who used to be long-distance backpackers, who had to stop backpacking due to health issues or injuries. Therefore, I knew that someday I would probably have some sort of health issue or accident, but I had always imagined (hoped) that I would be not affected for another six to ten years. 2023 is too soon to stop being active!

I began this year with the death of my dad on January 6, 2023, and my diagnosis of hypertrophic cardiomyopathy on January 13, 2023, the symptoms of which were quickly worsening!

Being diagnosed with hypertrophic cardiomyopathy reminds me again (since I already knew) why I made time in recent years to hike sections of America's long trails (Appalachian Trail, Pacific Crest Trail, and Continental Divide Trail) and stay active attending events in the Cleveland/Akron area while I still had my health. I plan to return to my normal, active life after I find a successful treatment.

As you will read in this blog post about my condition, you will learn that despite having hypertrophic cardiomyopathy, modern medicine does offer hope for getting rid of the debilitating symptoms.

 

 

December 7, 2022 - "Lungs Hurt"

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Provider Impressions [for Stuart O. Smith, Jr.]
. . . #Dyspnea on exertion
Patient presents with 1 month of slowly worsening dyspnea on exertion, states that he now has [shortness of breath] while walking up a flight of stairs or on a slow walk with his wife. Earlier this summer he was able to hike miles on the [Continental Divide] Trail. . . .
EKG in office appears unchanged from last EKG . . .
. . .
Patient was scheduled for a STAT echo tomorrow AM.
Labs were ordered.
Patient was instructed to go to ER ASAP if chest pain returns or symptoms worsen.
. . .
History of Present Illness
. . . dyspnea on exertion x 1 month. Feels it is slowly worsening. . . . Reports occasional intermittent midsternal chest "tightness" that is worse with activity and resolves with rest. . . . Has been under significant stress at home.
. . . Dec 7 2022 report

As mentioned in the quote at the top of this blog post "...my wife and I have had several challenges involving more than one family member .. " In the last few months of 2022, I was taking care of everyone else and did not have time to worry about myself, but then I felt something strange. I described the feeling by saying that my "lungs hurt." I was fortunate that I went in to get a medical evaluation, since my nurse practitioner ordered a "STAT" echocardiogram for the next day, and warned me to go to the emergency room if got worse. That day, I had had x-rays taken of my lungs, an EKG (echocardiogram, which records the electrical signals in the heart), and blood tests -- everything looked good!

I know that the stereotype of the American male is that they tend to delay medical treatment even when it is really needed -- this is not good! I normally try not to delay seeking healthcare, but with all the stress I was under in the fall, I assumed that my chest pain was stress related. If you look at the symptoms I was having, they were the same symptoms as those of extreme stress. I could have easily not sought medical assistance.

Thanks to Nurse Practitioner Sari Stone, I had the appropriate tests done that led to the correct diagnosis.

 

 

December 8, 2022 - Echocardiogram Results: Very High LVOT Gradient

ECHOCARDIOGRAM [for Stuart O. Smith, Jr.]
Collected on December 8, 2022
. . .
CONCLUSIONS:
. . .
4. Systolic anterior motion of the mitral valve with evidence of significant dynamic outflow tract obstruction. With Valsalva, the LVOT gradient is at least 56mmHg, and may be as high as 119 mmHg.
5. Compared with the prior study dated 1/19/2018, LVOT gradients have increased.

Note that near the end of the above How to... Measure LVOT (left ventricular outflow tract) Obstruction YouTube video it states that an LVOT gradient above 30 mmHg is significant, and above 50 mmHg is severe. My results were severe -- ranging from 56 to as high as 119!!

At the end of my echocardiogram, the technician made a point of having a cardiologist look at my results before I left, to confirm I was safe. (When the technician delayed my leaving, I thought to myself "déjà vu all over again," since a few years ago I had a similar experience where a 2021 CAT scan led to a technician having a doctor immediately review results.)

After receiving the echocardiogram results, I was scheduled on January 3, 2023, to have an MRI (Magnetic resonance imaging -- large magnet, radio signals, and a computer create images of heart) to confirm my diagnosis.

 

 

January 13, 2023 - Official Diagnosis Confirmed: Hypertrophic Cardiomyopathy

American College of Cardiology CardioSmart
Hypertrophic Cardiomyopathy (HCM)
Your heart is a muscle. Inside of it, there are four spaces, or chambers. If you have hypertrophic (hi-per-tro-fik) cardiomyopathy or HCM, your heart muscle gets thicker, making these chambers smaller. This may make it harder for your heart to pump blood out to your body.

If untreated or poorly managed, hypertrophic cardiomyopathy can cause other serious conditions such as heart failure, dangerous heart rhythms, and even sudden death. So finding it early is key.

HCM is usually passed down in families (inherited). If you or a family member has been diagnosed with HCM, be sure to talk with your clinician about genetic testing and screening.

Also, it’s important to remember that you’re not alone. HCM is the most common genetic heart disease in the U.S. It affects at least 1 in 500 adults. But even more people may have it and not know they do.

Wikipedia The Free Encyclopedia
Hypertrophic cardiomyopathy

. . . People may be asymptomatic, or may have fatigue, leg swelling, and shortness of breath. . . .

HCM is most commonly inherited[6] in an autosomal dominant pattern.[10] It is often due to mutations in certain genes involved with making heart muscle proteins. . . .

Treatment may depend on symptoms and other risk factors. Medications may include the use of beta blockers, verapamil or disopyramide.[8] An implantable cardiac defibrillator may be recommended in those with certain types of irregular heartbeat.[7] Surgery, in the form of a septal myectomy or heart transplant, may be done in those who do not improve with other measures.[7] With treatment, the risk of death from the disease is less than one percent per year.[9]

HCM affects up to one in 200 people.[8] Rates in men and women are about equal.[11] People of all ages may be affected.[11] The first modern description of the disease was by Donald Teare in 1958.[12][13]

On Friday, January 13, 2023, things started happening at a fast pace, as I had my second meeting with my cardiologist, Eiran Gorodeski MD, MPH (@EiranGorodeski). At this appointment, I was officially told that I have hypertrophic cardiomyopathy, based now on both my echocardiogram and MRI. I also learned about a new medicine, CAMZYOS® (mavacamten), which was just approved for the treatment of hypertrophic cardiomyopathy in 2022.

With the hypertrophic cardiomyopathy diagnosis confirmed, the following action steps were set in motion:

• The first step was for my case to be reviewed by the University Hospitals Cardiomyopathy Board and to get their recommendations on how to proceed.

• I left the appointment with Dr. Gorodeski wearing a BodyGuardian™ MINI Remote Cardiac Monitor (Holter heart monitor), which I would wear to track my heart for two weeks.

• The process was started to see if I was a good candidate for the new drug: CAMZYOS® (mavacamten).

• A virtual appointment was scheduled for January 20, 2023, with the University Hospital Hypertrophic Cardiomyopathy department's new nurse navigator, Diane Donato RN, BSN -BC. Nurse Donato would become my "go-to" person as she would steer me through the process of receiving the treatments I needed. In the coming months, she would often call me to check on my status.

• On January 20, 2023, Nurse Donato emailed me information about the Hypertrophic Cardiomyopathy Association (HCMA) 4hcm.org (@4hcm) -- "Serving the HCMA Spectrums Disorder Community Since 1996."

  The Objectives of the HCMA
  The HCMA was founded in 1996 as a 501c3 nonprofit organization. We provide support, advocacy, and education to patients, families, the medical community, and the public about hypertrophic cardiomyopathy while supporting research and fostering the development of treatments.
  
  We support the creation of high volume Center of Excellence care models to ensure all needs of the HCM patient community are met at the highest possible level. We believe in improving global awareness of the risks of this genetic heart disease and ensuring disease understanding, its complete natural history, and treatments are improved until the ultimate eradication of the disease itself.

  On February 20, 2023, my wife, Julie, and I attended the Hypertrophic Cardiomyopathy Association program: Newly Diagnosed Online Education Group - Host Lisa Salberg. It was a very informative talk for people new to HCM. Lisa Salberg told the group that she plans to make this talk available along with other video resources on the Hypertrophic Cardiomyopathy Association (HCMA) 4hcm.org website and YouTube channel. At the talk we learned that February 22nd was #HCMAwarenessDay. and that Ohio was the first state to officially recognize HCM Awareness Day.

• I was also referred by Dr. Gorodeski to the following:

  - Endocrinologist Revital Gorodeski Baskin, MD, to review if I have any need for cardio-metabolic care.

  - Cardiology-Clinical Cardiac Electrophysiologist Judith Mackall, MD. to review my heart's electrical system after receiving the results from the BodyGuardian™ MINI Remote Cardiac Monitor.

  - Genetics Counselor Emily Massiello, LGC for a family history review and genetics test.

• 
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  I want to highly recommend the many PDF fact sheets and workbooks about hypertrophic cardiomyopathy (HCM) provided by the American College of Cardiology CardioSmart. Nurse Donato told me about this fantastic online HCM resource, and later gave me a notebook full of their information. Please tell people interested to go to: CardioSmart.org/HCM

 

On January 20th, I made a point to send a thank-you text message via the University Hospitals MyChart app to Nurse Practitioner Sari Stone. She is the key person who recommended that I get the initial echocardiogram and meet with Cardiologist Eiran Gorodeski MD, MPH. I wrote in the text to her: "It is a direct result of your referral that I am getting the correct treatment earlier than I would have otherwise."

 

 

January 27, 2023 - "My Cardiologist" In the News

Eiran Z. Gorodeski, MD, MPH, FACC, FHFSA, is Medical Director of the Advanced Heart Failure & Transplant Center and the James and Angela Hambrick Center for Cardiac Recovery, University Hospitals Harrington Heart & Vascular Institute. He also serves as section head of advanced heart failure in the Division of Cardiovascular Medicine and Associate Professor of Medicine at Case Western Reserve University.

Eiran Gorodeski MD, MPH (@EiranGorodeski) is my cardiologist.

It feels VERY strange for me to write "MY cardiologist," since I now need a cardiologist (actually a team of University Hospitals cardiologists) for my current health condition, and for the rest of my life to monitor closely for future health concerns. Hypertrophic cardiomyopathy is a progressive disease which has a very high probability of being caused by a genetic mutation (see more in genetics section below), which means other family members could likely also be affected.

I have lived a healthy and active life -- my current and ongoing situation is extremely foreign to my way of thinking.

Here are some articles about Dr. Gorodeski that I learned about from some interesting organizations that I follow on Twitter:

Since @WKYC 3News and I follow each other on Twitter, I saw their January 27th tweet "Dr. Eiran Gorodeski says his grandfathers' history inspires him daily on the job." It tells the story of how Dr. Eiran Gorodeski and his sister, Dr. Revital Gorodeski Baskin, continued their family tradition by becoming doctors:

• Holocaust Remembrance Day: University Hospitals cardiologist's family legacy lives on
  Dr. Eiran Gorodeski says his grandfathers' history inspires him daily on the job.

 

While I was writing this "My Cardiologist" section of this blog post, I learned about the UH Harrington Heart & Vascular Institute twitter feed, and followed @HarringtonHVI. On April 19, 2023, they shared the following Cleveland Jewish News article about Dr. Gorodeski:

• Wolfs create Simon Chair in Cardiovascular Excellence at UH
  Posted Oct 17, 2022 at 3: 00 PM Updated Oct 20, 2022 at 12: 56 PM by Becky Raspe on Cleveland Jewish News (@BeckyRaspeCJN - @CleveJN)

 

 

February 3, 2023 - Read Article About Hypertrophic Cardiomyopathy Board

On February 3, 2023, I found the following article when looking for more information about the team of cardiologists helping me -- the University Hospitals Hypertrophic Cardiomyopathy Board. By the time I wrote this section of the blog post, I had met with all the cardiac doctors mentioned in this article.

I recommend you read:

• Innovative Hypertrophic Cardiomyopathy Board at University Hospitals Harrington Heart & Vascular Institute Features Diverse Set of Experts
  Article posted on July 11, 2022, by UH.

  . . . most common form of inherited heart disease . . .
  
  . . . Another indicator of complexity? The U.S. Food and Drug Administration requires that physicians pass a specialized test before they can prescribe the newly approved drug for obstructive hypertrophic cardiomyopathy, mavacamten (Camzyos). . . .
  
  . . . “The guidelines are very complex,” says Eiran Gorodeski, MD, MPH, Medical Director, Advanced Heart Failure & Transplant Center . . .
  
  . . . Yasir Abu-Omar, MD, DPhil, Surgical Director . . . provides expertise in cardiothoracic surgery to the new board . . .
  
  . . . Treating heart rhythm issues is another critical aspect of managing patients with hypertrophic cardiomyopathy, addressed by the new multidisciplinary board, says Judith Mackall, MD, Director, Center for Cardiovascular Genetics . . .

In preparing for a meeting with Nurse Diane Donato on April 18, 2023, I did a Twitter search for the keywords "Hypertrophic Cardiomyopathy Ohio,” and found the most recent tweet was Dr. Gorodeski’s July 14, 2022, tweet about the Hypertrophic Cardiomyopathy Board.

 

Here are some other tweets mentioning the Hypertrophic Cardiomyopathy Board:

 

 

February 10, 2023 - Felt Very Fortunate!!!
Started Taking Newly Available HCM Medication!!!
CAMZYOS™ (mavacamten)

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CAMZYOS—The first and only FDA-approved treatment of its kind*—targets the source of symptomatic obstructive HCM.

On February 1, 2023, I received an email with the exciting news that I had been approved for, and on February 10, 2023, I took my first dose of CAMZYOS® (mavacamten). I have always considered myself to be a fortunate person -- I have had great opportunities in my life -- and now I had the chance to try a new medication right at the time I needed treatment for a lifelong genetic condition!

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Nurse Donato sent me the following MyoKardia, Inc. (a Bristol-Myers Squibb company) website resources which I highly recommend reading.

• CAMZYOS® (mavacamten) Camzyos.com

• CAMZYOS® REMS (Risk Evaluation and Mitigation Strategy) CamzyosREMS.com

• Could It Be HCM? CouldItBeHCM.com

On February 3, 2023, I was provided by Bristol-Myers Squibb phone access to a special CAMZYOS® nurse and a CAMZYOS® patient access specialist. They also mailed me a CAMZYOS® Welcome Kit. I learned that CAMZYOS® (mavacamten). would have cost me $4,028.43 for 30 days, since I received the full bill by mistake. Instead, the Bristol-Myers Squibb Patient Support Program offered me the first 35 days for free, and then said that they would only charge me $10 per month in the future.

While writing this blog post, I found the Hypertrophic Cardiomyopathy Association About Mavacamten web page, which has videos and resources about this new drug.

 

 

March 8, 2023 - Wrote About My January/February Blogs Not Written

There were four blog posts that I started creating on my laptop about early 2023 events. Due to circumstances beyond my control, I was not able to attend any of the events . . .

As I started 2023, symptoms caused by my hypertrophic cardiomyopathy had radically changed my life to the point that I wrote in my March 8, 2023, sosAssociates.com Blogiversary: Eleven blog post about the events I missed, instead of my normal blogging about the many that I would attend.

Now, as I write my 2023 Blogiversary blog post, I am in the middle of another potentially life-changing situation, but I believe I have a good support team that will help me find a successful solution to overcome the current challenge. I hope to write a blog post later this year to document my planned success.

I chose not to mention my hypertrophic cardiomyopathy (HCM) directly in my blog anniversary post, since I wanted to wait to write this blog post (and subsequent HCM-related blog posts) until I had a solution for my symptoms that I could share with others. I instead alluded to my issues.

In the above block quote, the "potentially life-changing situation" is, of course, finding successul treatment for my hypertrophic cardiomyopathy, and the "good support team that will help me find a successful solution to overcome the current challenge" is the University Hospitals Hypertrophic Cardiomyopathy Board, who is guiding my HCM treatment. This blog post and my other HCM blog posts are the answer to my wish to "write a blog post later this year to document my planned success."

I hope my hypertrophic cardiomyopathy (HCM) blog posts will help others by providing information about the treatment options I experienced firsthand, and the HCM educational resources I found.

 

 

March 9, 2023 - Cardiac Electrophysiology

An Associate Professor at the School of Medicine, Dr. Mackall is also the Medical Director for the Cardiac Device Clinic, Program Director for the Cardiac Electrophysiology Fellowship, and Director of the Center for Cardiovascular Genetics at University Hospitals Harrington Heart & Vascular Institute. She is actively involved in clinical trials of novel device and drug therapies for the treatment of heart rhythm disorders and heart failure. She is also investigating the underlying mechanisms of sudden death in inherited arrhythmia syndromes.

After the results were compiled from the BodyGuardian™ MINI Remote Cardiac Monitor, I met with Cardiology-Clinical Cardiac Electrophysiologist, Judith Mackall, MD, to review my heart's electrical system on March 9, 2023. Is is my understanding that Hypertrophic Cardiomyopathy causes scarring that might interfere with the electrical signals of the heart.

Great news!! From a cardiac electrophysiological viewpoint, my heart looks great!!!

Despite my current monitor results looking good, it was recommended to me that I wear a heart monitor once a year for two weeks to confirm that everything continues to go well. Hypertrophic cardiomyopathy is a progressive disease, so I need to be sure to continue to watch for heart changes that could impact my quality of life.

A Holter monitor is a type of portable echocardiogram (ECG). It records the electrical activity of the heart continuously over 24 hours or longer while you are away from the healthcare provider’s office. Most monitors come in patch form which stick to the upper left portion of your chest.

 

 

March 9, 2023 - Genetics Counseling

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On March 9, 2023, Dr. Mackall also reviewed how hypertrophic cardiomyopathy is most often caused by a genetic mutation. After talking to Dr. Mackall, she had me meet with Genetics Counselor Emily Massiello, LGC, to review in detail my family history, and explain the risks to my immediate blood relatives (50% chance of them having this genetic condition). I then had blood drawn for my genetics test, and when I was told the results on March 28, 2023, what we expected was confirmed. I had a genetic mutation that caused my hypertrophic cardiomyopathy!

 

 

March 7 and 13, 2023 - Success and Failure Together!

ECHOCARDIOGRAM [for Stuart O. Smith, Jr.]
Collected on March 7, 2023 10:49 AM
. . .
CONCLUSIONS:
. . . The resting gradient is 14 mmHg.The provoked gradient is 21 mmHg.

A normal gradient is zero, and a gradient starting at 30 is considered a problem. My second echocardiogram on March 7, 2023, showed incredible success! I had been taking CAMZYOS™ for just under a month (started February 10, 2023), and I was well within what should have returned my life to normal.

But, I did NOT feel any better! My symptoms continued to be bad most days, and on March 13, 2023, I wrote the following in my daily health journal where I tracked how I was feeling:

5:45 am something wrong with my heart — I wonder if should be in hospital. 7:17 am chest hurts. . . . dizzy. 8:47 am very sharp pain on left side of chest. . . . After eat could not walk up stairs — barely able to crawl up stairs. . . . Briefly felt nauseous while walking to get lunch. . . . I go back in bed out of breath. . . .

I have been told that CAMZYOS™ is successful for about 60% of patients, but my treatment with this medicine had me landing on the losing side of a treatment flip of the coin. Dr. Gorodeski directed me to stop taking CAMZYOS™ on Monday, March 13, 2023. Yes, the blood flow in my heart greatly benefited by using CAMZYOS™, but unfortunately I also had too many of the potential side effects.

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Get medical help right away if you experience new or worsening symptoms, including:

Shortness of breath
Chest pain
Fatigue
Racing heart (palpitations)
Leg swelling
Rapid weight gain
. . .
The most common side effects of CAMZYOS include dizziness and fainting (syncope).
...
Talk to your healthcare provider for more information about side effects. You may report side effects to the FDA at 1-800-FDA-1088. You may also report side effects to Bristol-Myers Squibb at 1-800-721-5072

 

 

March 31, 2023, Third Echocardiogram - Heart Gradient Shifted Back

 

I am glad that I ended the month by having another echocardiogram, since it confirmed that my hypertrophic cardiomyopathy still needed treatment. My third echocardiogram showed that as the CAMZYOS™ (mavacamten) wore off, my gradient was getting worse again.

In these three months that I have had serious hypertrophic cardiomyopathy symptoms, I can tell you that it can ruin your quality of life.

While my next options (alcohol septal ablation or septal myectomy) could be scary, since they include surgery, part of me is glad that the CAMZYOS™ (mavacamten) was not a success. I don't like the thought of having to be so dependent on a medication for my basic quality of life. The options that were now in front of me, if successful, would offer a permanent solution.

Read more about my hypertrophic cardiomyopathy treatment journey in my next blog post:

• My Hypertrophic Cardiomyopathy Part Two: Surgery

and for information about my hospital stay and my return home in my blog:

• My Hypertrophic Cardiomyopathy Part Three: Hospital & Home