Vigorous Exercise in Patients With Hypertrophic Cardiomyopathy.

Importance: Whether vigorous intensity exercise is associated with an increase in risk of ventricular arrhythmias in individuals with hypertrophic cardiomyopathy (HCM) is unknown. Objective: To determine whether engagement in vigorous exercise is associated with increased risk for ventricular arrhythmias and/or mortality in individuals with HCM. The a priori hypothesis was that participants engaging in vigorous activity were not more likely to have an arrhythmic event or die than those who reported nonvigorous activity. Design, Setting, and Participants: This was an investigator-initiated, prospective cohort study. Participants were enrolled from May 18, 2015, to April 25, 2019, with completion in February 28, 2022. Participants were categorized according to self-reported levels of physical activity: sedentary, moderate, or vigorous-intensity exercise. This was a multicenter, observational registry with recruitment at 42 high-volume HCM centers in the US and internationally; patients could also self-enroll through the central site. Individuals aged 8 to 60 years diagnosed with HCM or genotype positive without left ventricular hypertrophy (phenotype negative) without conditions precluding exercise were enrolled. Exposures: Amount and intensity of physical activity. Main Outcomes and Measures: The primary prespecified composite end point included death, resuscitated sudden cardiac arrest, arrhythmic syncope, and appropriate shock from an implantable cardioverter defibrillator. All outcome events were adjudicated by an events committee blinded to the patient's exercise category. Results: Among the 1660 total participants (mean [SD] age, 39 [15] years; 996 male [60%]), 252 (15%) were classified as sedentary, and 709 (43%) participated in moderate exercise. Among the 699 individuals (42%) who participated in vigorous-intensity exercise, 259 (37%) participated competitively. A total of 77 individuals (4.6%) reached the composite end point. These individuals included 44 (4.6%) of those classified as nonvigorous and 33 (4.7%) of those classified as vigorous, with corresponding rates of 15.3 and 15.9 per 1000 person-years, respectively. In multivariate Cox regression analysis of the primary composite end point, individuals engaging in vigorous exercise did not experience a higher rate of events compared with the nonvigorous group with an adjusted hazard ratio of 1.01. The upper 95% 1-sided confidence level was 1.48, which was below the prespecified boundary of 1.5 for noninferiority. Conclusions and Relevance: Results of this cohort study suggest that among individuals with HCM or those who are genotype positive/phenotype negative and are treated in experienced centers, those exercising vigorously did not experience a higher rate of death or life-threatening arrhythmias than those exercising moderately or those who were sedentary. These data may inform discussion between the patient and their expert clinician around exercise participation.

The role of patient advocacy in hypertrophic cardiomyopathy: The 25-year journey of the HCMA.

Patients with hypertrophic cardiomyopathy have clinical, logistical, and emotional needs that had previously lacked attention and a coordinated approach. The United States-based HCMA recognized Center of Excellence model coupled with strong patient education, support and advocacy services can serve as a model for other nations. Patients benefit from peer support and high-volume HCM care.

Living with hypertrophic cardiomyopathy: a patient's perspective.

Hypertrophic cardiomyopathy (HCM) is a complex disease characterized by thickening of the cardiac muscle. Common symptoms include chest pain, shortness of breath, palpitations, fatigue and syncope (fainting), which are often confused for other conditions. Clinical treatment focuses on the relief of symptoms with medical therapies, which provide adequate to more variable symptomatic relief. Patients may experience more severe complications that require surgical intervention, such as implantable cardioverter-defibrillator therapy or septal myectomy. Despite the potential impact on quality of life, the humanistic burden of HCM is not well established. Here, we present four patient testimonials that highlight challenges faced by patients and clinicians in diagnosing HCM and managing symptoms. These testimonials provide valuable information on the spectrum and expression of HCM across generations. Such testimonials can better inform disease diagnosis and monitoring, maximizing quality of life and improving disease outcome.

Participation in thrill-seeking activities by patients with hypertrophic cardiomyopathy: Individual preferences, adverse events and physician attitude.

BACKGROUND: Thrill-seeking activities are a favorite pastime for people of all ages. Patients with hypertrophic cardiomyopathy (HCM) are often barred from participation on the basis of danger for arrhythmias. Our aim was to collect information regarding the safety of thrill-seeking activities for HCM patients. METHODS: An anonymous online survey invited adult HCM patients to report participation in 11 activities (rollercoaster riding, jet skiing, rafting, bungee jumping, rappelling, paragliding, kayaking/canoeing, motor racing, snowboarding, BASE jumping and skydiving) before and after HCM diagnosis, along with major (ICD shock, syncope) or minor (nausea, dizziness, palpitations, chest pain) adverse events related to participation, and relevant physician advice. RESULTS: Six hundred forty-seven HCM patients completed the survey, with 571 (88.2%) reporting participation in ≥1 TSAs (participant age 50.85 ±â€¯14.21, 56.6% female, 8143 post-diagnosis participations). At time of survey, 457 participants (70.6%) were ICD-carriers or had ≥1 risk factor for sudden cardiac death. Nine (1.5%) participants reported a major event during or immediately after (60 minutes) of surveyed activity. Minor adverse events were reported by 181 participants (31.6%). In addition, 8 participants reported a major adverse event >60 minutes later but within the same day. Regarding physician advice, of the 213 responders (32.9%) receiving specific advice, 56 (26.2%) were told safety data is absent with no definitive recommendation, while 24 (11.2%) and 93 (43.6%) were told TSAs were respectively safe or dangerous. CONCLUSIONS: In this cohort, participation in thrill-seeking activities rarely caused major adverse events. This information can be used for shared-decision making between providers and patients.

Establishment of Specialized Clinical Cardiovascular Genetics Programs: Recognizing the Need and Meeting Standards: A Scientific Statement From the American Heart Association.

Cardiovascular genetics is a rapidly evolving subspecialty within cardiovascular medicine, and its growth is attributed to advances in genome sequencing and genetic testing and the expanding understanding of the genetic basis of multiple cardiac conditions, including arrhythmias (channelopathies), heart failure (cardiomyopathies), lipid disorders, cardiac complications of neuromuscular conditions, and vascular disease, including aortopathies. There have also been great advances in clinical diagnostic methods, as well as in therapies to ameliorate symptoms, slow progression of disease, and mitigate the risk of adverse outcomes. Emerging challenges include interpretation of genetic test results and the evaluation, counseling, and management of genetically at-risk family members who have inherited pathogenic variants but do not yet manifest disease. With these advances and challenges, there is a need for specialized programs combining both cardiovascular medicine and genetics expertise. The integration of clinical cardiovascular findings, including those obtained from physical examination, imaging, and functional assessment, with genetic information allows for improved diagnosis, prognostication, and cascade family testing to identify and to manage risk, and in some cases to provide genotype-specific therapy. This emerging subspecialty may ultimately require a new cardiovascular subspecialist, the genetic cardiologist, equipped with these combined skills, to permit interpretation of genetic variation within the context of phenotype and to extend the utility of genetic testing. This scientific statement outlines current best practices for delivering cardiovascular genetic evaluation and care in both the pediatric and the adult settings, with a focus on team member expertise and conditions that most benefit from genetic evaluation.

Disclosure of diagnosis to at-risk relatives by individuals diagnosed with hypertrophic cardiomyopathy (HCM).

Hypertrophic cardiomyopathy (HCM) affects 1 in 200 people and is the most common cause of sudden cardiac death in the young. Given that HCM usually is inherited in an autosomal dominant pattern, an HCM diagnosis has implications for biologically related family members. The purpose of this study was to explore probands' disclosure of an HCM diagnosis with these biologically related, at-risk family members. An online survey was posted on the website of the Hypertrophic Cardiomyopathy Association (HCMA), an advocacy and support group for HCM patients and their families. Descriptive statistics were used to summarize responses to closed-ended questions and demographics. Using an iterative content analysis with the constant comparison approach, we analyzed the responses to open-ended questions inquiring about the nature and role of disclosure communication with at-risk relatives. A total of 315 individuals with a self-reported diagnosis of HCM completed the survey. Most participants (98%) disclosed their diagnosis to at-risk family members. Sixty-four percent disclosed to family members less than 1 year after diagnosis. Participants also disclosed potential treatment options (74.6%) and the emotional impact of the diagnosis (39%). HCM specialists were ranked by participants as being the most helping in explaining the benefit of genetic counseling, while genetic counselor were ranked as least helpful. Emerging themes address the need to encourage screening and genetic testing among family members and to identify external educational resources for use during the disclosure process. Importantly, our study found that the process of disclosure varies based on individuals' experiences and family communication dynamics. However, almost all participants expressed the importance of disclosing the diagnosis of HCM as well as the importance of being screened and expressed needs for additional support during the disclosure process.

Patient understanding of disease and the use and outcome of implantable cardioverter defibrillators in hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is the most common cause of sudden cardiac death (SCD) in young individuals. Implantable cardioverter defibrillators (ICD) are the primary therapy for sudden death prevention; however, are associated with both physical and psychological complications. We sought to determine factors associated with ICD understanding and patient satisfaction. This was a cross-sectional study, using patient/parent answered questionnaires distributed to patients enrolled in the Hypertrophic Cardiomyopathy Association. Patient characteristics and satisfaction data were obtained via questionnaire. Patients were compared based on age at diagnosis and presence of ICD. ICD patients with high satisfaction were compared to those with low satisfaction to determine factors associated with poor satisfaction. A total of 538 responses were obtained (53 ± 16 years); 46% were females. Seventy patients (13%) were diagnosed with HCM < 18 years of age and 356 (66%) had an ICD. Compared to those without an ICD, patients with ICDs were younger at age of diagnosis (P = 0.001) and time of study (P = 0.008). Patients with ICDs were more likely to have presented with syncope and have family history of ICD, SCD, or HCM-related death. Nineteen patients (5%) felt that issues surrounding their ICD outweighed its benefit. Compared to patients with a favorable satisfaction, the only significant difference was the preimplant ICD discussion (P < 0.001) and history of lead replacement (P = 0.01). In conclusion, the majority of HCM patients with ICDs are satisfied with their ICD management and feel the benefits of ICDs outweigh issues associated with ICDs. Additionally, these data highlight the importance of the preimplant patient-physician discussion around the need for ICD prior to implantation.

Family communication in a population at risk for hypertrophic cardiomyopathy.

Encouraging family communication is an integral component of genetic counseling; therefore, we sought to identify factors impacting communication to family members at risk for Hypertrophic Cardiomyopathy (HCM). Participants (N = 383) completed an online survey assessing: 1) demographics (gender, genetic test results, HCM family history, and disease severity); 2) illness representations; 3) family functioning and cohesiveness; 4) coping styles; 5) comprehension of HCM autosomal dominant inheritance; and 6) communication of HCM risk information to at-risk relatives. Participants were a national sample of individuals with HCM, recruited through the Hypertrophic Cardiomyopathy Association. Data from 183 participants were analyzed using a logistic regression analysis, with family communication as a dichotomous dependent variable. We found that female gender and higher comprehension of autosomal dominant inheritance were significant predictors of participants' communication of HCM risk information to all their siblings and children. Our results suggest that utilizing interventions that promote patient comprehension (e.g., a teaching-focused model of genetic counseling) are important and may positively impact family communication within families with HCM.

Physical activity and other health behaviors in adults with hypertrophic cardiomyopathy.

The clinical expression of hypertrophic cardiomyopathy (HC) is undoubtedly influenced by modifying genetic and environmental factors. Lifestyle practices such as tobacco and alcohol use, poor nutritional intake, and physical inactivity are strongly associated with adverse cardiovascular outcomes and increased mortality in the general population. Before addressing the direct effect of such modifiable factors on the natural history of HC, it is critical to define their prevalence in this population. A voluntary survey, drawing questions in part from the 2007 to 2008 National Health and Nutrition Examination Survey (NHANES), was posted on the HC Association website and administered to patients with HC at the University of Michigan. Propensity score matching to NHANES participants was used. Dichotomous and continuous health behaviors were analyzed using logistic and linear regression, respectively, and adjusted for body mass index and propensity score quintile. Compared to the matched NHANES participants, the patients with HC reported significantly less alcohol and tobacco use but also less time engaged in physical activity at work and for leisure. Time spent participating in vigorous or moderate activity was a strong predictor of self-reported exercise capacity. The body mass index was greater in the HC cohort than in the NHANES cohort. Exercise restrictions negatively affected emotional well-being in most surveyed subjects. In conclusion, patients with HC are less active than the general United States population. The well-established relation of inactivity, obesity, and cardiovascular mortality might be exaggerated in patients with HC. More data are needed on exercise in those with HC to strike a balance between acute risks and the long-term health benefits of exercise.

Ethical and legal views regarding deactivation of cardiac implantable electrical devices in patients with hypertrophic cardiomyopathy.

Little is known about patients' views surrounding the ethical and legal aspects of managing pacemakers (PMs) and implantable cardioverter-defibrillators (ICDs) near the end of life. Patients with hypertrophic cardiomyopathy (HC) are at heightened risk of sudden cardiac death and are common recipients of such devices. Patients with HC recruited from the membership of the Hypertrophic Cardiomyopathy Association were surveyed about their clinical histories, advance care planning, legal knowledge, and ethical beliefs relating to the withdrawal of PM and ICD therapy. The mean age of the 546 patients was 49.1 years, 47% were women, and 57% had ICDs. Only 46% of the respondents had completed an advance directive, only 51% had a healthcare proxy, and cardiac implantable electrical devices (CIEDs) were commonly not addressed in either (92% and 58%, respectively). Many patients characterized deactivating PMs or ICDs as euthanasia or physician-assisted suicide (29% for PMs and 17% for ICDs), and >50% expressed uncertainty regarding the legality of device deactivation. Patients viewed deactivation of ICDs and PMs as morally different from other life-sustaining therapies such as mechanical ventilation and dialysis, and these views varied substantially according to the CIED type (p <0.0001). The respondents expressed concerns regarding clinical conflicts related to religion, ethical and legal uncertainty, and informed consent. In conclusion, patients who have, or are eligible to receive, CIEDs might require improved advance care planning and education regarding the ethical and legal options for managing CIEDs at the end of life.

Emotional stress triggers symptoms in hypertrophic cardiomyopathy: a survey of the Hypertrophic Cardiomyopathy Association.

BACKGROUND: Symptoms are among the most important factors impacting quality of life (QOL) in hypertrophic cardiomyopathy (HCM) patients, and reflect a poor prognosis. Whether emotional stress can trigger symptoms of chest pain, dyspnea, palpitations, and lightheadedness has not been described. METHODS: Members of the Hypertrophic Cardiomyopathy Association (HCMA) received an electronic link via e-mail to an ongoing online survey, also accessed via links on the HCMA message-board and homepage. Between May 2007 and November 2008, there were 1,297 respondents. The survey queried demographic and self-reported clinical information, and types and triggers of symptoms. Respondents reported physical and emotional QOL on a 1-10 Likert scale. RESULTS: Symptoms reported included chest pain (49%), dyspnea (70%), palpitations (61%), and syncope/lightheadedness (59%). The most common symptom trigger was exertion, 64% describing symptoms while climbing stairs or hills. Forty-nine percent described experiencing symptoms during emotional stress. Those reporting chest pain were more likely to report emotion triggering (60%) than those reporting palpitations, syncope/lightheadedness, or dyspnea (50-54% each). Both physical and emotional QOL were significantly decreased in those describing emotion-triggered symptoms. Women were more likely than men to report symptoms overall, as well as emotion-triggered symptoms (50% vs 35%, P < 0.001) and exertion-triggered symptoms (79% vs 58%, P < 0.001). After controlling for presence of symptoms, both emotion- and exertion-triggered symptoms remained significantly more common in women. CONCLUSIONS: Triggering of symptoms by emotion is common in individuals with HCM. Further studies will determine pathways linking emotional stressors with chest pain, dyspnea, palpitations, and lightheadedness in these patients.

Patient advocacy: what is its role?

While there are significant differences in the delivery of health care throughout the world, there is one constant, the patient. Patients' needs vary greatly on the basis of socioeconomic and geographic issues, expected prognosis, family dynamics, health literacy, and many other factors. In the past 20 years, the role of patient advocacy organizations has added an important new dynamic to patient care. Understanding patient advocacy organizations and how to access their services can be beneficial to clinicians, researchers, and patients. Critical issues are (1) closer collaboration and partnership with physician organizations, like PACES, in order to improve individual patient care and the quality of care that physicians are able to deliver; (b) work with physicians, physician organizations, and advocacy groups to measure the impact of advocacy groups; and (3) increase community-based participatory research.

The first patient clinically diagnosed with hypertrophic cardiomyopathy.

It has now been 50 years since the initial clinical description of hypertrophic cardiomyopathy. In this regard, it is noteworthy that the first patient diagnosed with this disease has survived to date in good health with an active and productive lifestyle -- albeit with heart transplantation necessitated by an aggressive disease course with progression to the end-stage phase.