Living with hypertrophic cardiomyopathy: a patient’s perspective

Hypertrophic cardiomyopathy (HCM) is a myocardial disorder characterized by left ventricular hypertrophy, hypercontractility, impaired relaxation and reduced compliance (Figure 1) [1–3]. HCM is a chronic and progressive disease that can be debilitating and life changing, significantly impacting quality of life. The most common symptoms reported include chest pain, shortness of breath, palpitations, exertional dyspnea, fatigue and syncope [2,3]. HCM is associated with increased risk of heart failure, atrial fibrillation, stroke and sudden cardiac death (SCD) [4–6]. Symptoms may be confused for other conditions, and a correct diagnosis can take years. The estimated prevalence is 1:500 adults [7], yet of the estimated 700,000 patients with HCM in the USA, only approximately 100,000 have been diagnosed [8]. Current management for HCM is non specific and includes beta-blockers, non dihydropyridine calcium channel blockers or disopyramide, yet these medications provide variable symptomatic relief and are associated with side effects [2,3,9]. While patients with less severe symptoms may be well managed with available medical treatments, in others, symptoms and function can worsen. More malignant complications may require an implantable cardioverter defibrillator (ICD), invasive septal reduction therapies, such as septal myectomy for patients with obstructive HCM, or even cardiac transplant [10]. These interventions have resulted in improved survival and, in many patients, acceptable quality of life [11]. Despite the potential impact of HCM on quality of life, the humanistic burden of HCM has not been well documented and analyses of direct patient testimonials have been rarely reported [12–15]. The following patient testimonials describe the humanistic burden of HCM, highlighting difficulties of diagnosis, challenges of symptom management, progression to severe disease and impact on quality of life. The patients were identified through their involvement with the SHaRe Cardiomyopathy registry and the Hypertrophic Cardiomyopathy Association and were chosen for their diverse representation of the HCM community.

Patient perspectives

Patient 1

I was diagnosed with HCM at age 24. My mother had HCM and lost three brothers to sudden cardiac arrest by the time she was 23. Through age 18, I had no symptoms – my doctors assured me that my heart would not enlarge and we were all elated that I was spared.

There were times I suspected that the doctors were wrong. While walking to college classes, my heart would start pounding, sometimes with chest pain traveling down my left arm. About 2 years after graduation, I started having near fainting episodes and saw a doctor.

An echocardiogram confirmed my fears – I had non-obstructive HCM. My cardiologist warned that I could experience sudden death at any moment and advised against having children. Another cardiologist confirmed the diagnosis, and with verapamil my symptoms improved. More medications were added as my symptoms progressed. Given my family history, my doctors recommended an ICD, which I received 5 years after diagnosis.

A few years later, I got married and had a son. We had his cord blood tested and learned, at age 4 months, that he was gene positive for HCM, although, thankfully, an echocardiogram showed no heart muscle thickening, indicating he currently had no disease. However, we were told that he would likely develop HCM when he was older. My daughter, born 2 years later, had an echocardiogram when she was just 24 h old that showed her heart was already ‘very chunky’. She was diagnosed with obstructive HCM, which meant she would need repeat echos every few months as her heart grew.

Having a serious health condition as an adult is terrible, but having a child with that condition is another thing altogether. I had accepted my disease and achieved fairly stable symptom control with the medications I was taking, but knowing our new baby’s heart was already thick, struggling to beat properly, was a fear I never had for myself.

At age 5, my daughter’s heart muscle thickened dramatically and her symptoms worsened. She had difficulty climbing stairs and would crawl midway, then stop to rest. Her doctors examined her heart via catheterization, and at age 6 she had a septal myectomy 2 months after graduating from kindergarten. Coincidently, during my daughter’s surgical recovery, my mother entered a neighboring hospital with a failing replacement valve following a heart transplant. My mother experienced several cardiac arrests on the day after my daughter’s surgery. The next day I joined my father and brother at her bedside while they took her off life support. I then returned to my daughter, numb with grief but needing to focus on helping her heal. Thankfully, my daughter’s myectomy was successful and afterward she could run with friends, climb stairs and play without always needing to sit and rest.

The next 7 years were uneventful, until my son, at age 15, was diagnosed with non-obstructive HCM. His heart thickening was minor and he had no symptoms, so he needed no medications or restrictions. He, with his doctor, developed a safe exercise and weight-lifting plan and remained symptom free.

My daughter was also doing well, enjoying horseback riding and her final year of middle school. However, just after her 14th birthday, she suffered multiple cardiac arrests. During dance class, her heart went into bradycardia and she fainted. This repeated minutes later and twice en route to our local hospital, where the bradycardia events progressed to complete heart block requiring manual cardiopulmonary resuscitation (CPR). She received a temporary external pacemaker to regulate her heart rhythm during air transport to another hospital, and 2 days later received a dual-chamber ICD. She no longer needed an automated external defibrillator in her backpack and could visit friends’ houses without my needing to teach the parents how to use the automated external defibrillator. She finally felt free.

Today, my own HCM is manageable with verapamil, atenolol, furosemide, vitamin D3, magnesium and aspirin. I can do most normal activities but have bad days when even crossing a parking lot is a challenge. I have a great relationship with my doctor, and we have become good friends. Together we have made my HCM livable – and I remind myself every day to live!

Patient 2

Growing up, I dreamed of being a dancer – lighting up the stage and making people smile, laugh or cry. As a teen, I spent every waking moment, besides studying, in a dance studio, exploring labanotation (system for recording and analyzing movement) and perfecting my pointe technique. My goal was to enter The Juilliard School in New York City, and I pushed my body toward it. I seemed the epitome of health, yet, paradoxically, that vigorous exercise might have been the swan song of both my dance career and my life.

For years, I experienced fainting, fatigue, dizziness, shortness of breath, fluid retention and chest pain, all misdiagnosed as lack of conditioning, dehydration or not eating enough. None of my doctors suspected heart disease, and no family members had experienced medical events that they deemed heart related. At age 17, I collapsed after dance practice and was taken to the hospital. A heart murmur was detected, and more invasive testing revealed non-obstructive HCM. For years, my septal wall thickness has remained nearly constant, at 27 mm (echocardiography) or 35 mm (cardiac magnetic resonance imaging).

After my diagnosis, I asked if I had to give up dancing. My cardiologist, understandably wary of my level of performing and the intensity of the conditioning, advised me to find other, less intense forms of exercise to keep my heart healthy. I used a recumbent bicycle for years until my symptoms progressed. Now I am restricted to low-intensity walking, using a step counter and aiming for 10,000 steps daily.

Another question was whether my future children would have the disease. I was referred to a geneticist specializing in family planning, and test results showed a mutation in the MYBPC3 gene. Specifically, I had the Arg502Trp variant, in which tryptophan replaces arginine at codon 502. In vitro fertilization and pre-implantation genetic testing could help prevent passing this mutation to my children.

To treat my HCM and help prevent its most serious symptoms (chest pain, shortness of breath and palpitations), I was prescribed beta blockers. The dosage has fluctuated over time, from 25 to 50 mg once or twice daily. I had water retention throughout my life and had edema at diagnosis, accumulating 20 pounds in just 1 week. My cardiologist and I found that diuretics and potassium, as needed, help lessen my edema and out-of-breath symptoms. I weigh myself daily to monitor fluid retention, and follow a low-sodium (<1500 mg daily) heart-healthy diet.

Several years after my diagnosis, I collapsed and was deemed at high risk of SCD. I had immediate surgery for a transvenous ICD, which I had for 7 years, until experiencing a lead fracture in the wire attached to my heart. One day, the ICD shocked my heart, knocking me down in the street. I learned that since my initial implant, new options had become available. After consulting with my electrophysiologist, I had lead extraction surgery to replace my ICD with a subcutaneous ICD, allowing a normal lifestyle, with back-up protection against SCD. While in the hospital recovering, I was also able to speak with a psychologist who specializes in cardiology to address some anxiety I was experiencing associated with the inappropriate defibrillator shock. I was able to discuss and implement long-term coping strategies and learned that I am not alone in facing them; these worries are common among patients who receive inappropriate therapies.

There are many lessons I have learned over my HCM journey thus far. An important one was restructuring my thinking to find new ways to impact people from a stage that looks a little different than the one I used to dance on. I have learned that by telling my story, I am able to connect with other patients and give solutions to the problems we collectively face a pulse. I have also learned that the best care is achieved by informed patients who take initiative and responsibility for their condition, experienced and knowledgeable doctors and advances in care and research at national and international levels.

Patient 3

An avid tennis player since childhood, I had played competitively for 3 years before my obstructive HCM diagnosis at age 49. During a summer lesson, I felt short of breath, although it was not hot outside and I had not overexerted myself. Before summer’s end, a nutritionist identified high sodium intake as affecting my blood pressure and tennis performance. I lowered my daily sodium intake to 2200 mg (from >6000 mg) and lost 18 pounds. Unfortunately, an echocardiogram showed an increased basal septal wall thickness of 13 mm due to obstructive HCM. I began taking diltiazem to lower my blood pressure. A subsequent electrocardiogram showed a wider-than-normal QRS complex, which continues to this day.

By the next fall, I was playing my best tennis, winning almost twice as many matches as I was losing. However, this success was muted by a lateral meniscus tear and echocardiogram showing a 14 mm septal wall thickness. Two years later, that thickness increased to 16 mm and my shortness of breath roared back despite a daily dose of diltiazem.

A year and a half later, Holter monitor readings and a 19 mm septal wall thickness demanded my full attention. My dynamic subvalvular left ventricular outflow tract gradient had worsened, especially following kettlebell squats. An injured shoulder fortuitously took me off the tennis court; because my cardiologist had not recommended stopping high-intensity sports, I would have continued to push myself, further increasing my SCD risk.

After an 8-month break, I entered a tennis tournament over the 4 July holiday. Despite heat indices near 105°F with oncourt temperatures >130°F, I had no heart- or heat-related issues during the 4-day competition. However, past midnight on the last day, I awoke feeling overheated. After lying back down, my heart began palpitating, with wheezing and gurgling in my chest. Emergency room testing revealed increased troponin proteins (0.4 ng/ml) and minor heart damage, likely due to years of my heart working to push blood from the upper left ventricle to my body. Septal wall thickness was 23 mm, a year-over-year 20% increase.

At a follow up, my cardiologist recommended an extended septal myectomy. The next month, a 4 h procedure by a highly experienced surgeon reduced my septal wall thickness to approximately 10 mm. While I had personal reservations about my surgeon, I never feared any of the possible outcomes. I knew with full confidence that I was in the best hands, given the highest recommendations from my cardiologist of 7 years and the #1 cardiologist in the USA, the reputation of the hospital and previous patient post procedure reviews of the surgeon. After the procedure, my heart rate was normally elevated for approximately 6 months. I took acetaminophen for post surgical sternal region pain. My years-long heart murmur disappeared, but I incurred a left bundle branch block from the myectomy. I had hoped to stop taking diltiazem altogether, but the surgeon briefly increased my daily dosage to 240 mg. After bouts of dizziness and lightheadedness, I returned to the pre surgical dosage, with no further incidents.

Given my family history (my grandma suffered her first major heart attack at age 47, and my dad experienced SCD at age 63) and an inherited obstructive HCM gene mutation, I was recommended for an automated ICD, given my active lifestyle. Recovery from automated ICD surgery was 3 weeks. My electrocardiologist tests the device annually, and my cardiologist sees me either semi-annually or annually, recently finding a basal septal wall thickness of 11 mm and a mild dynamic subvalvular left ventricular outflow tract gradient.

With a refurbished ticker and an ‘insurance policy’ embedded below my left clavicle, I am elated that I have a 3-year-old heart in a 59-year-old body. I live a happy and fulfilled life that includes participation in every pre surgery activity, including competitive tennis – a wonderful outcome for which I am forever grateful.

Patient 4

I was diagnosed with HCM in 1979, at age 12. It was school ‘physical’ day, an awkward event when girls had to remove their shirts and the doctor listened to their hearts. When I stood before the doctor, his face dropped. I knew the same disease that killed my grandfather and great aunt and affected my uncle and sister was showing its ugly head. A cardiologist confirmed the diagnosis, offering no cure and saying I could die suddenly at any time. The untimely death of my grandfather had a generational impact on my family. My father was 18 and turned to alcohol to cope; by 35, he was sober and nearly ready to face the grief from the loss of his father.

After my diagnosis, we never returned to the cardiologist. Denial was my mother’s way of coping, so I covered up my pounding heartbeat, chest and back pain and shortness of breath. I wanted to avoid hurting her and my dad, who I knew had previous addiction issues I did not want to aggravate. By this time, my father experienced his own symptoms and had a brother and now two children with HCM.

During middle school, I hid my struggle to keep up with my peers for fear of being perceived as different and excluded from social events, such as roller skating. Throughout high school, nobody knew I had cardiac symptoms – not even my boyfriend, who later became my husband. On dates, I smiled through the pain, minimizing my symptoms while honing skills to disguise them.

At age 19, I finally received medicine for my heart, almost accidentally. I suffered severe migraine headaches and received beta-blocker treatment. A few years later, just after my wedding, I went to the emergency room with a terrible headache. I had a stroke due to complications of endocarditis following an earlier dental procedure. After a 10-day hospitalization, I recovered at home. I refused therapy and returned to work as soon as possible. My chest pain lessened after the stroke; oddly, the scar on my mitral valve had partially reduced my outflow tract obstruction. I kept denying most of my limitations, and doctors considered me ‘asymptomatic’. My cover up was working.

Shortly after my stroke, my uncle collapsed and died at age 48. My father had lost his little brother, and I thought, “How terrible to bury your sibling." Five years later, my husband and I received news that my sister had stopped breathing and was in the emergency room. Watching my young niece and nephew (one was already diagnosed with HCM), so scared at their mother’s bedside, was heart wrenching. After 5 days, my sister died at age 36. Death from HCM is not an ending; it is the beginning of a new generation of pain, loss and grief. It has a physical toll on the body and emotional pain that lingers. For us, it came with a custody battle and all of the stress associated with ensuring the children were safe in every possible way. Each family member processes the grief in their way, and some become closer, while others drift away.

My sister’s death led me to learn all I could about this condition. I dug for information, would not take ‘no’ for an answer – I had lost enough. I learned that my sister’s doctor was less well regarded than I had been told. Frustrated with the lack of information for patients, I started a non profit organization to help others with HCM. In 25 years, I have spoken to >15,500 families, offering education, support and advocacy. I have participated in several clinical trials, and in one study, I experienced significant improvement (peak oxygen consumption increased from 17.2 to 22.6 ml/kg/min). I became cautiously optimistic that maybe we had a treatment that truly improves quality of life for those with non-obstructive disease. Sadly, the positive effects were short lived and I landed in the hospital with few options left.

One day, I had been traveling for business and had to hurry to catch a connecting flight; I nearly passed out at Detroit International. On my way home a few days later, I had not fully recovered and thought a day home would set things right. I was short of breath and dizzy, and walking to the mailbox was a huge challenge. I called my HCM care team and said, “Ok, I admit it. I am not well.”

At age 48 – after receiving a pacemaker, four ICDs, seven different cardiac medications and a peripherally inserted central catheter line for milrinone therapy – I received a phone call that changed my life. I had waited months on a heart transplant list, and a new heart was finally available. I felt like I had won the lottery. My journey with this wonky heart was about to end. Before my transplant, I heard every pounding and skipped heartbeat. Now that was gone – silent, strange, reassuring. I had my old heart preserved for use as a teaching tool, and feeling its weight in my hands was surreal. Holding my own heart in that moment, I appreciated the lightness of my new heart. It was amazing – an ending and beginning all at once. HCM may no longer be in my donor heart, but it is in my blood. We worry about those we love and how HCM may impact their lives. It never ends; it is generational until the day we can eradicate it from the bloodline.

Discussion

The main themes and key messages that emerged from an informal analysis of the four testimonials from patients with HCM that progressed to a more severe disease are summarized in Figure 2. One common theme was feelings of anxiety, fear and uncertainty. Another was the use of coping mechanisms and minimizing symptoms. For example, patients with HCM may rationalize symptoms as attributable to dietary issues (Patients 2 and 3) or even deny symptoms (Patient 4).

As demonstrated in the patient testimonials, family history can be a valuable source of information on HCM presentation and expression [16]. Choices must be made on whether to share information among extended family, to determine needs for clinical screening, and whether to pursue genetic testing (Patients 1 and 2), all of which can add to patients’ psychological burden.

All patients described the need for lifestyle changes, a theme also addressed in published guidelines [2,3]. They modified their physical activity as symptoms progressed, recognizing that exercise can promote well-being and relieve stress, but determining safe activity levels is an ongoing effort for these patients. Clinicians and patients should tailor exercise plans that consider individual risk factors, with adaptations as symptoms or cardiac morphology change, understanding that exercise can be integral to self-identity.

Another theme centered on invasive treatment options, since patients with severe disease may require surgical interventions, such as device therapy (e.g., ICD) or myectomy, to reduce symptoms, prevent lethal arrhythmias and reduce risk of SCD [10]. Like many with HCM, these patients reported that ICDs provide comfort and reassurance against an unpredictable risk of SCD and showed how other invasive procedures, including septal myectomy and cardiac transplant, drastically changed patients’ lives. One patient (Patient 4) compared her heart transplant to "winning the lottery … an ending and beginning all at once." Such reports of improved quality of life suggest that patients may not realize how self-limiting they became as their symptoms progressed. While these invasive procedures are recommended by current guidelines for symptomatic relief and have contributed to extended longevity, they are associated with inherent procedural risk and should be performed at high volume, multidisciplinary HCM centers by experienced operators [2,3,11]. Furthermore, septal reduction therapies are not a cure for the disease; some patients who undergo these procedures may still experience symptoms and may require pharmacologic therapy or other surgical interventions [17].

These testimonials highlight a final theme, the need for continuing education as treatments evolve. Several patients indicated frustration with identifying knowledgeable clinicians and developing trusting physician–patient relationships, recognizing that close collaboration was essential to successful treatment. One patient (Patient 4) spearheaded a nonprofit organization to support the HCM community. Optimal management of HCM depends on coordinated, integrated care from a team of healthcare providers (cardiologists, electrophysiologists, surgeons, nurses, primary care physicians and genetic counselors) involved in shared decision making with patients, families and caregivers [3].

Conclusion

These testimonials provide valuable information on the spectrum and expression of HCM across generations, the challenges of diagnosing and treating HCM and the impact on patient quality of life. Such reports can help inform clinicians on how to communicate with patients to better understand the disease burden, everyday challenges and responses to therapies.

Future perspective

Recognizing the importance of the patient’s perspective can help improve diagnosis and monitoring of HCM and will help clinicians better understand the impact of HCM and effects of treatment on all aspects of a patient’s life. Understanding the patient experience will also help facilitate shared decision making between patients and providers, as recommended in the updated American Heart Association/American College of Cardiology HCM guidelines [3].