Joanna Sweeting

Challenges of Exercise Recommendations and Sports Participation in Genetic Heart Disease Patients

Physical activity has been shown to have many health benefits in the primary and secondary prevention of noncommunicable chronic diseases, including cardiovascular disease, diabetes mellitus, and certain cancers.1–3 Physical activity also has a positive effect on psychological well-being, reducing the risk and severity of depression and anxiety and improving stress levels and mood.4,5 Physical activity includes activities undertaken as part of occupational and household duties, or for transport, as well as sporting and other recreational activities.6 Exercise is a major component of physical activity, distinct in that it is generally planned, structured, repetitive and has an objective of improved physical fitness and health.6 With physical activity providing so many health benefits, it follows that physical inactivity should be a major concern for health professionals and the population as a whole. Physical inactivity is the fourth leading cause of death worldwide and has been identified as a pandemic requiring global attention.7 In addition, physical inactivity has been deemed responsible for nearly 10% of premature deaths worldwide.8 Although exercise is beneficial for all age groups for both healthy people and those predisposed to chronic medical conditions, such as coronary artery disease, the role of exercise in the setting of patients with genetic heart diseases is more complex. A well described association between high-intensity exercise and sudden cardiac death (SCD) has been established,9,10 and this has historically led to blanket sport and exercise restrictions for any patient meeting diagnostic criteria for a genetic heart disease. The increased understanding of the beneficial effects of even low intensity exercise has called in to question whether current exercise and sports restrictions are too strict, and more importantly whether we are doing enough to actively encourage patients to undertake low to moderate intensity exercise. …

Sudden cardiac death in athletes

#### The bottom line Sudden cardiac death is defined as an unexpected death, occurring usually within one hour from onset of symptoms in cases where the death is witnessed and in unwitnessed cases within 24 hours of the individual last being seen alive and well.1 Sudden cardiac death in athletes is the leading cause of medical death in this subgroup, with an estimated incidence of 1 in 50 000 to 1 in 80 000 athletes per year, although a wide range has been reported, from 1 in 3000 in some subpopulations to 1 in 1 000 000.2 Males, black or African Americans, and basketball players seem to be at a higher risk than other subgroups.2 #### Sources and selection criteria We searched PubMed and the Cochrane Database of Systematic Reviews using the search terms “sudden cardiac death” and “athletes”. To ensure that we represented a diversity of opinion worldwide, particularly on preparticipation screening, …

Cardiac Abnormalities and Sudden Infant Death Syndrome

Many factors have been implicated in SIDS cases including environmental influences such as sleeping arrangements and smoking. Most recently, cardiac abnormalities have been hypothesised to play a role in some cases, particularly the primary genetic arrhythmogenic disorders such as familial long QT syndrome (LQTS). Both post-mortem and clinical studies of SIDS cases have provided supporting evidence for the involvement of cardiac genetic disorders in SIDS. This review provides a summary of this evidence focussing particularly on the primary hypothesis related to underlying familial LQTS. In addition, the current literature relating to other cardiac genetic conditions such as Brugada syndrome (BrS) and structural heart diseases such as hypertrophic cardiomyopathy (HCM) is briefly presented. Finally, the implications of a possible cardiac genetic cause of SIDS is discussed with reference to the need for genetic testing in SIDS cases and subsequent clinical and genetic testing in family members.

Sudden deaths during the largest community running event in Australia: A 25-year review

The benefits of physical activity have been known for centuries with Hippocrates observing that “eating alone will not make a man well: he must also take exercise. For food and exercise... work together to produce health” [1]. Further health benefits of physical activity are found in the prevention of other non-communicable chronic diseases including diabetes and certain cancers [2]. In addition to physical health, physical activity also has a positive effect on psychological wellbeing, reducing the risk and severity of depression and anxiety, and improving stress levels and mood [3]. Running has been found to reduce all-cause and cardiovascular mortality risk even in relatively small doses and at slow speeds [4]. It is a convenient, low-cost and accessible form of exercise with little equipment required and therefore is often undertaken by those looking to increase their physical activity levels. The largest fun run in Australia is the City2Surf held in Sydney, NSW every year. With a mid-range distance of 14 km, participants in the City2Surf vary from the elite to those who do no training at all. The City2Surf course encompasses several inclines including the infamous “heartbreak hill”, a 2 km climb from approximately 4 m to 80 m above sea level (Fig. 1), providing a physical challenge for even well-trained individuals. We sought to review the sudden death events in the last 25 years during the City2Surf to provide some indication regarding how common such events are and the public health impact.

Sudden Cardiac Death in Athletes: Still Much to Learn

Athletes are often regarded as individuals at the pinnacle of health and fitness, nearly to the point of invincibility. The sudden cardiac death (SCD) of an athlete is therefore generally unexpected and extremely traumatic. Some of the most commonly identified causes of SCD in athletes include the genetic heart diseases. Despite thorough clinical and genetic investigation, in some cases a cause of death cannot be elucidated. Further research in these areas, spanning clinical, genetic, and public health perspectives, is required to help guide clinicians and those encountering the tragedy of SCD in an athlete.

Impact of the implantable cardioverter defibrillator on confidence to undertake physical activity in inherited heart disease: A cross-sectional study:

Background: Physical activity is associated with improved quality of life. Patients with an implantable cardioverter defibrillator (ICD) face unique clinical and psychological challenges. Factors such as fear of ICD shock may negatively impact on physical activity, while a sense of protection gained from the ICD may instil confidence to be active. Aim: We aimed to examine the impact of an ICD on physical activity levels and factors associated with amount of activity. Methods: Two cross-sectional studies were conducted. Accelerometer data (seven-day) was collected in March–November 2015 for 63 consecutively recruited hypertrophic cardiomyopathy patients, with or without an ICD, aged ⩾18 years. A survey study was conducted in July–August 2016 of 155 individuals aged ⩾18 years with an inherited heart disease and an ICD in situ. Results: Based on the International Physical Activity Questionnaire, mean leisure time physical activity was 239 ± 300 min/week with 51% meeting physical activity guidelines. Accelerometry showed that mean moderate–vigorous physical activity was the same for patients with and without an ICD (254 ± 139 min/week versus 300 ± 150 min/week, p=0.23). Nearly half of survey participants (n=73) said their device made them more confident to exercise. Being anxious about ICD shocks was the only factor associated with not meeting physical activity guidelines. Conclusions: Patients with inherited heart disease adjust differently to their ICD device, and for many it has no impact on physical activity. Discussion regarding the appropriate level of physical activity and potential barriers will ensure best possible outcomes in this unique patient group.

Sudden death in athletes: Preventable or inevitable?

Sudden cardiac death (SCD) is a tragic and devastating complication of a number of underlying cardiovascular diseases. In people younger than 35 years, genetic heart diseases such as inherited cardiomyopathies, namely, hypertrophic cardiomyopathy (HCM), and primary arrhythmogenic disorders, including familial long QT syndrome, represent an important cause of SCD. In those younger than 35 years, coronary artery disease and myocardial infarction together comprise over 90% of SCD cases. Understanding the causes and arrhythmogenic substrates underpinning SCD and elucidating what specific factors may trigger malignant arrhythmias represent key foundations for the development of treatment and prevention strategies to reduce SCD in our communities. In this issue of HeartRhythm, Risgaard et al present findings from a retrospective nationwide study of SCD in Denmark, with data from SCD cases collected over a 3-year period from 2007 to 2009. The main focus was on SCD cases aged 12–49 years and specifically to compare SCD incidence rates between competitive and noncompetitive athletes, so-called sports-related SCD cases. Of 881 SCD cases aged 12–49 years over the study period, 44 sports-related SCD cases were identified (0.54 per 100,000 person-years). Significantly, in the age group of 12–35 years, there was no difference in the incidence of SCD between competitive (0.47 per 100,000 athlete person-years) and noncompetitive (0.43 per 100,000 athlete person-years) athletes. The incidence of sports-related SCD in those aged 36–49 years was significantly increased in both competitive and noncompetitive athletes. Importantly, the overall incidence of SCD in the general population was found to be much more prevalent than that of sports-related SCD in all age groups. The authors are to be congratulated for the rigorous and dedicated efforts to collect this important data set. These

Sudden Cardiac Death in Athletes

Sudden cardiac death (SCD) in athletes is a rare but tragic complication of a number of cardiovascular diseases. Inherited causes such as the structural and arrhythmogenic genetic heart conditions are often found or suspected to be the underlying cause of death at post mortem examination. Physical activity and intense exercise may trigger cardiac arrhythmias in individuals with these conditions leading to SCD. Prevention and treatment strategies include individual athlete management strategies, coupled with public health measures such as universal cardiopulmonary resuscitation (CPR) training and availability of automatic external defibrillators (AEDs) in public places, thereby preventing SCD in both athletes and the general population. Where an athlete is known to have a cardiac condition, some restrictions from participation may be prudent, however, new evidence is emerging that perhaps current restrictions are too strict and could be relaxed in some cases. An athlete-centred model of care is essential to ensure the clinical implications and athlete preferences are balanced providing the best outcome for all concerned.

Psychological adaptation to molecular autopsy findings following sudden cardiac death in the young

Sudden cardiac death (SCD) in the young is a devastating event occurring in otherwise healthy individuals. Postmortem genetic testing (molecular autopsy) may help identify a cause, though there is potential for uncertainty. We report psychological adaptation to molecular autopsy findings amongst family members after a young SCD. First-degree relatives who had experienced a SCD of a young relative and attended a specialized cardiac genetic clinic were invited to complete a cross-sectional, self-report survey comprising a number of validated scales. Clinical, genetic, and family history information was collected from the medical record. Thirty-three individuals from 27 families (response rate 48%) completed a survey (mean age 49 ± 12 years, 49% were mothers of the decedent). Eleven (36%) reported poor adaptation to genetic information, and compared with those with good adaptation, they were more likely to have worse posttraumatic stress symptoms (p = 0.0004) and depression (p = 0.01). Perceived support was lower in those reporting poor adaptation, including social support (p < 0.0001) and perceived support from significant others (p = 0.03), family members (p = 0.001), and friends (p = 0.0002). Adaptation to molecular autopsy findings may be difficult for some relatives following a young SCD. Careful pretest genetic counseling and integration of psychological support is needed.PurposeSudden cardiac death (SCD) in the young is a devastating event occurring in otherwise healthy individuals. Postmortem genetic testing (molecular autopsy) may help identify a cause, though there is potential for uncertainty. We report psychological adaptation to molecular autopsy findings amongst family members after a young SCD.MethodsFirst-degree relatives who had experienced a SCD of a young relative and attended a specialized cardiac genetic clinic were invited to complete a cross-sectional, self-report survey comprising a number of validated scales. Clinical, genetic, and family history information was collected from the medical record.ResultsThirty-three individuals from 27 families (response rate 48%) completed a survey (mean age 49 ± 12 years, 49% were mothers of the decedent). Eleven (36%) reported poor adaptation to genetic information, and compared with those with good adaptation, they were more likely to have worse posttraumatic stress symptoms (p = 0.0004) and depression (p = 0.01). Perceived support was lower in those reporting poor adaptation, including social support (p < 0.0001) and perceived support from significant others (p = 0.03), family members (p = 0.001), and friends (p = 0.0002).ConclusionAdaptation to molecular autopsy findings may be difficult for some relatives following a young SCD. Careful pretest genetic counseling and integration of psychological support is needed.

A Control Theory-Based Pilot Intervention to Increase Physical Activity in Patients With Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HC) is the most common genetic heart disease. Consensus guidelines recommend restriction from competitive and/or high-intensity physical activities; however, sufficient light-moderate intensity physical activity remains important for health and wellbeing. This study aimed to evaluate the effectiveness and appeal of a control theory-based intervention to increase physical activity levels in individuals with HC. A pre to post trial of HC participants (n = 25) recruited from May 2016 to April 2017 from a specialized, multidisciplinary clinic was conducted. A 12-week intervention based on principles of control theory was developed. The primary outcome measures were self-reported leisure and transport-related physical activity. The mean age of participants was 42 ± 13years and the majority were men (n = 15, 60%). Although both the primary (self-report) and secondary (objective) outcome measures of physical activity increased, such as leisure-time physical activity: 98 ± 132 minutes per week to 151 ± 218 minutes per week, these were not statistically significant. Secondary outcome measures improved, including physical health-related quality of life (HR-QoL; 43 ± 6 to 50 ± 8, p = 0.004), self-efficacy (14 ± 3 to 16 ± 4, p <0.001), and the number of barriers identified (4 ± 3 to 3 ± 2 barriers, p = 0.02). This simple, easy-to-administer intervention to promote physical activity in HC improved willingness to undertake physical activity, increased self-efficacy, and improved physical quality of life. This may help patients overcome perceived barriers and a lack of confidence regarding physical activity, with the ultimate goal to improve overall health outcomes in HC patients.